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Robert T. Dirksen, Ph.D.

Robert T. Dirksen, Ph.D.

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About Me

Faculty Appointments

Professor - Department of Pharmacology and Physiology (SMD)

Chair - Department of Pharmacology and Physiology (SMD)

Lewis Pratt Ross Professorship of Pharmacology and Physiology - Department of Pharmacology and Physiology (SMD)

Credentials

Post-doctoral Training & Residency

Postdoctoral Fellow, Colorado State University, Fort Collins, CO (Mentor: Kurt G. Beam, Ph. D.) 1991 - 1996

Education

PhD | University of Rochester. Pharmacology. 1991

MS | University of Rochester. Pharmacology. 1988

BS | University of Notre Dame. Biology. 1985

Awards

Chair. 2015

Vice-Chair. 2012

Graduate Student Society Faculty Mentoring Award. 2002

Research

Dr. Dirksen directs a multi-disciplinary research program focused on elucidating disease mechanisms and advancing treatment for muscular dystrophy and heart disease. The laboratory investigates the pathophysiological mechanisms by which defects in the proper control of intracellular calcium signalin...
Dr. Dirksen directs a multi-disciplinary research program focused on elucidating disease mechanisms and advancing treatment for muscular dystrophy and heart disease. The laboratory investigates the pathophysiological mechanisms by which defects in the proper control of intracellular calcium signaling lead to muscle dysfunction and disease. Current projects involve elucidating the cellular mechanisms by which muscle function is controlled by proteins involved in coordinating: 1) excitation-contraction coupling, 2) store-operated calcium entry, and 3) mitochondrial calcium uptake and energy production, as well as 4) the molecular mechanisms for skeletal and cardiac muscle dysfunction in myotonic dystrophy.

Publications

Journal Articles

An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.

Zhao N, Michelucci A, Pietrangelo L, Malik S, Groom L, Leigh J, O'Connor TN, Takano T, Kingsley PD, Palis J, Boncompagni S, Protasi F, Dirksen RT

The EMBO journal.. 2024 October 17 Epub 10/17/2024.

Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.

Liang C, Malik S, He M, Groom L, Ture SK, O'Connor TN, Morrell CN, Dirksen RT

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2024 October 38 (20):e70120. Epub 1900 01 01.

DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid ? proteotoxicity.

Peng W, Chung KB, Lawrence BP, O'Banion MK, Dirksen RT, Wojtovich AP, Onukwufor JO

Free radical biology & medicine.. 2024 September 22 Epub 09/22/2024.

Individuals and Families Affected by RYR1-Related Diseases - The Patient/Caregiver Perspective.

van de Camp SAJH, Stinissen L, Huseth A, Simon B, Ryan J, Sarkozy A, Van Petegem F, Goldberg MF, Jungbluth H, Böhm J, Oortwijn W, Dirksen RT, Voermans NC

Journal of neuromuscular diseases.. 2024 August 14 Epub 08/14/2024.

DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in amyloid ? proteotoxicity.

Peng W, Chung KB, Lawrence BP, O'Banion MK, Dirksen RT, Wojtovich AP, Onukwufor JO

bioRxiv : the preprint server for biology.. 2024 August 9 Epub 08/09/2024.

Constitutive, Muscle-Specific Knockout Results in the Incomplete Assembly of Ca Entry Units and a Reduction in the Age-Dependent Formation of Tubular Aggregates.

Di Fonso A, Serano M, He M, Leigh J, Rastelli G, Dirksen RT, Protasi F, Pietrangelo L

Biomedicines.. 2024 July 2412 (8)Epub 07/24/2024.

Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression.

Asantewaa G, Tuttle ET, Ward NP, Kang YP, Kim Y, Kavanagh ME, Girnius N, Chen Y, Rodriguez K, Hecht F, Zocchi M, Smorodintsev-Schiller L, Scales TQ, Taylor K, Alimohammadi F, Duncan RP, Sechrist ZR, Agostini-Vulaj D, Schafer XL, Chang H, Smith ZR, O'Connor TN, Whelan S, Selfors LM, Crowdis J, Gray GK, Bronson RT, Brenner D, Rufini A, Dirksen RT, Hezel AF, Huber AR, Munger J, Cravatt BF, Vasiliou V, Cole CL, DeNicola GM, Harris IS

Nature communications.. 2024 July 2115 (1):6152. Epub 07/21/2024.

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.

Endo Y, Groom L, Wang SM, Pannia E, Griffiths NW, Van Gennip JLM, Ciruna B, Laporte J, Dirksen RT, Dowling JJ

Human molecular genetics.. 2024 January 2033 (3):254-269. Epub 1900 01 01.

Cortical microglia dynamics are conserved during voluntary wheel running.

Strohm AO, O'Connor TN, Oldfield S, Young S, Hammond C, McCall M, Dirksen RT, Majewska AK

Journal of applied physiology.. 2024 January 1136 (1):89-108. Epub 11/16/2023.

Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy.

O'Connor TN, Zhao N, Orciuoli HM, Brasile A, Pietrangelo L, He M, Groom L, Leigh J, Mahamed Z, Liang C, Malik S, Protasi F, Dirksen RT

bioRxiv : the preprint server for biology.. 2023 September 29 Epub 09/29/2023.

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.

Magyar ZÉ, Hevesi J, Groom L, Dirksen RT, Almássy J

Scientific reports.. 2023 September 513 (1):14659. Epub 09/05/2023.

Glutathione supports lipid abundance .

Asantewaa G, Tuttle ET, Ward NP, Kang YP, Kim Y, Kavanagh ME, Girnius N, Chen Y, Duncan R, Rodriguez K, Hecht F, Zocchi M, Smorodintsev-Schiller L, Scales TQ, Taylor K, Alimohammadi F, Sechrist ZR, Agostini-Vulaj D, Schafer XL, Chang H, Smith Z, O'Connor TN, Whelan S, Selfors LM, Crowdis J, Gray GK, Bronson RT, Brenner D, Rufini A, Dirksen RT, Hezel AF, Huber AR, Munger J, Cravatt BF, Vasiliou V, Cole CL, DeNicola GM, Harris IS

bioRxiv : the preprint server for biology.. 2023 February 11 Epub 02/11/2023.

Characterization of ORAI1 mouse model of tubular aggregate myopathy.

Zhao N, Michelucci A, He M, Malik S, Pietrangelo L, Boncompagni S, Protasi F, Dirksen RT

Biophysical journal.. 2023 February 10122 (3S1):377a. Epub 1900 01 01.

RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.

O'Connor TN, van den Bersselaar LR, Chen YS, Nicolau S, Simon B, Huseth A, Todd JJ, Van Petegem F, Sarkozy A, Goldberg MF, Voermans NC, Dirksen RT,

Journal of neuromuscular diseases.. 2023 10 (1):135-154. Epub 1900 01 01.

Constitutive assembly of Ca2+ entry units in soleus muscle from calsequestrin knockout mice.

Michelucci A, Pietrangelo L, Rastelli G, Protasi F, Dirksen RT, Boncompagni S

The Journal of general physiology.. 2022 December 5154 (12)Epub 10/12/2022.

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.

Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG

Human molecular genetics.. 2022 November 2831 (23):4087-4093. Epub 1900 01 01.

Exercise attenuates juvenile irradiation-induced skeletal muscle decline by improving calcium handling and decreasing mitochondrial stress.

O'Connor TN, Kallenbach JG, Chakkalakal JV, Dirksen RT

The Journal of general physiology.. 2022 September 5154 (9)Epub 11/12/2021.

Acute exposure to extracellular BTP2 does not inhibit Ca2+ release during EC coupling in intact skeletal muscle fibers.

Wei-LaPierre L, Groom L, Dirksen RT

The Journal of general physiology.. 2022 September 5154 (9)Epub 12/15/2021.

Postdevelopmental knockout of Orai1 improves muscle pathology in a mouse model of Duchenne muscular dystrophy.

García-Castañeda M, Michelucci A, Zhao N, Malik S, Dirksen RT

The Journal of general physiology.. 2022 September 5154 (9)Epub 08/08/2022.

Excitation-contraction coupling in cardiac, skeletal, and smooth muscle.

Dirksen RT, Eisner DA, Ríos E, Sipido KR

The Journal of general physiology.. 2022 September 5154 (9)Epub 08/19/2022.

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.

Endo Y, Groom L, Celik A, Kraeva N, Lee CS, Jung SY, Gardner L, Shaw MA, Hamilton SL, Hopkins PM, Dirksen RT, Riazi S, Dowling JJ

Nature communications.. 2022 June 1313 (1):3403. Epub 06/13/2022.

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Espinosa KG, Geissah S, Groom L, Volpatti J, Scott IC, Dirksen RT, Zhao M, Dowling JJ

Disease models & mechanisms.. 2022 May 115 (5)Epub 05/09/2022.

Endurance exercise attenuates juvenile irradiation-induced skeletal muscle functional decline and mitochondrial stress.

O'Connor TN, Kallenbach JG, Orciuoli HM, Paris ND, Bachman JF, Johnston CJ, Hernady E, Williams JP, Dirksen RT, Chakkalakal JV

Skeletal muscle. 2022 April 1212 (1):8. Epub 04/12/2022.

Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.

Onukwufor JO, Dirksen RT, Wojtovich AP

Antioxidants.. 2022 March 3111 (4)Epub 03/31/2022.

Dendritic cell-specific transmembrane protein is required for synovitis and bone resorption in inflammatory arthritis.

Garcia-Hernandez ML, Rangel-Moreno J, Garcia-Castaneda M, Kenney HM, Paine A, Thullen M, Anandarajah AP, Schwarz EM, Dirksen RT, Ritchlin CT

Frontiers in immunology.. 2022 13 :1026574. Epub 11/07/2022.

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG

Genetics in medicine : official journal of the American College of Medical Genetics.. 2021 July 23 (7):1288-1295. Epub 03/25/2021.

Altered Ca Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.

Michelucci A, Liang C, Protasi F, Dirksen RT

Metabolites.. 2021 June 2811 (7)Epub 06/28/2021.

How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators.

Baker ML, Dirksen RT, Hamilton SL

Cell calcium.. 2021 April 1997 :102412. Epub 04/19/2021.

Genomic Screening for Malignant Hyperthermia Susceptibility.

Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J

Anesthesiology.. 2020 December 1133 (6):1277-1282. Epub 1900 01 01.

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT

Skeletal muscle. 2020 November 1610 (1):32. Epub 11/16/2020.

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Wang HJ, Lee CS, Yee RSZ, Groom L, Friedman I, Babcock L, Georgiou DK, Hong J, Hanna AD, Recio J, Choi JM, Chang T, Agha NH, Romero J, Sarkar P, Voermans N, Gaber MW, Jung SY, Baker ML, Pautler RG, Dirksen RT, Riazi S, Hamilton SL

Nature communications.. 2020 October 911 (1):5099. Epub 10/09/2020.

Pre-assembled Ca2+ entry units and constitutively active Ca2+ entry in skeletal muscle of calsequestrin-1 knockout mice.

Michelucci A, Boncompagni S, Pietrangelo L, Takano T, Protasi F, Dirksen RT

The Journal of general physiology.. 2020 October 5152 (10)Epub 1900 01 01.

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.

Volpatti JR, Endo Y, Knox J, Groom L, Brennan S, Noche R, Zuercher WJ, Roy P, Dirksen RT, Dowling JJ

eLife.. 2020 March 309 Epub 03/30/2020.

Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.

Kim JK, Jha NN, Feng Z, Faleiro MR, Chiriboga CA, Wei-Lapierre L, Dirksen RT, Ko CP, Monani UR

The Journal of clinical investigation.. 2020 March 2130 (3):1271-1287. Epub 1900 01 01.

Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA.

Tylock KM, Auerbach DS, Tang ZZ, Thornton CA, Dirksen RT

The Journal of general physiology.. 2020 February 3152 (2)Epub 1900 01 01.

PharmGKB summary: very important pharmacogene information for CACNA1S.

Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE

Pharmacogenetics and genomics.. 2020 February 30 (2):34-44. Epub 1900 01 01.

Transverse tubule remodeling enhances Orai1-dependent Ca entry in skeletal muscle.

Michelucci A, Boncompagni S, Pietrangelo L, García-Castañeda M, Takano T, Malik S, Dirksen RT, Protasi F

eLife.. 2019 October 288 Epub 10/28/2019.

Mouse model of severe recessive RYR1-related myopathy.

Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei-La-Pierre L, Dowling JJ, Dirksen RT

Human molecular genetics.. 2019 September 1528 (18):3024-3036. Epub 1900 01 01.

4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.

Yue L, Talukder MAH, Gurjar A, Lee JI, Noble M, Dirksen RT, Chakkalakal J, Elfar JC

Muscle & nerve.. 2019 August 60 (2):192-201. Epub 05/30/2019.

Introduction.

Dirksen RT, Wang W, Sheu SS

Archives of biochemistry and biophysics.. 2019 July 15669 :31. Epub 05/18/2019.

Isolating a reverse-mode ATP synthase-dependent mechanism of mitoflash activation.

Wei-LaPierre L, Dirksen RT

The Journal of general physiology.. 2019 June 3151 (6):708-713. Epub 04/22/2019.

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein T, Mark Poler S, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG

Clinical pharmacology and therapeutics.. 2019 June 105 (6):1338-1344. Epub 01/24/2019.

Substrate-dependent and cyclophilin D-independent regulation of mitochondrial flashes in skeletal and cardiac muscle.

Wei-LaPierre L, Ainbinder A, Tylock KM, Dirksen RT

Archives of biochemistry and biophysics.. 2019 April 15665 :122-131. Epub 03/11/2019.

Skeletal muscle mitoflashes, pH, and the role of uncoupling protein-3.

McBride S, Wei-LaPierre L, McMurray F, MacFarlane M, Qiu X, Patten DA, Dirksen RT, Harper ME

Archives of biochemistry and biophysics.. 2019 March 15663 :239-248. Epub 01/16/2019.

Purinergic Signaling Modulates Survival/Proliferation of Human Dental Pulp Stem Cells.

Zhang S, Ye D, Ma L, Ren Y, Dirksen RT, Liu X

Journal of dental research.. 2019 February 98 (2):242-249. Epub 11/01/2018.

Understanding malignant hyperthermia: each move forward opens our eyes to the distance left to travel.

Dirksen RT, Allen PD, Lopez JR

British journal of anaesthesia.. 2019 January 122 (1):8-9. Epub 11/27/2018.

Role of STIM1/ORAI1-mediated store-operated Ca entry in skeletal muscle physiology and disease.

Michelucci A, García-Castañeda M, Boncompagni S, Dirksen RT

Cell calcium.. 2018 December 76 :101-115. Epub 10/30/2018.

Addendum: Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.

Boncompagni S, Michelucci A, Pietrangelo L, Dirksen RT, Protasi F

Scientific reports.. 2018 November 278 (1):17463. Epub 11/27/2018.

Tamoxifen therapy in a murine model of myotubular myopathy.

Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ

Nature communications.. 2018 November 199 (1):4849. Epub 11/19/2018.

Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.

Trembley MA, Quijada P, Agullo-Pascual E, Tylock KM, Colpan M, Dirkx RA, Myers JR, Mickelsen DM, de Mesy Bentley K, Rothenberg E, Moravec CS, Alexis JD, Gregorio CC, Dirksen RT, Delmar M, Small EM

Circulation.. 2018 October 23138 (17):1864-1878. Epub 1900 01 01.

Cardiac metabolic effects of K1.2 channel deletion and evidence for its mitochondrial localization.

Smith CO, Wang YT, Nadtochiy SM, Miller JH, Jonas EA, Dirksen RT, Nehrke K, Brookes PS

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2018 June 432 (11):fj201800139R. Epub 06/04/2018.

Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications.

Auerbach DS, Biton Y, Polonsky B, McNitt S, Gross RA, Dirksen RT, Moss AJ

Translational research : the journal of laboratory and clinical medicine.. 2018 January 191 :81-92.e7. Epub 10/20/2017.

Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.

Boncompagni S, Michelucci A, Pietrangelo L, Dirksen RT, Protasi F

Scientific reports.. 2017 October 277 (1):14286. Epub 10/27/2017.

Reduced threshold for store overload-induced Ca release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.

Chen W, Koop A, Liu Y, Guo W, Wei J, Wang R, MacLennan DH, Dirksen RT, Chen SRW

The Biochemical journal.. 2017 August 7474 (16):2749-2761. Epub 08/07/2017.

Loss of adult skeletal muscle stem cells drives age-related neuromuscular junction degeneration.

Liu W, Klose A, Forman S, Paris ND, Wei-LaPierre L, Cortés-Lopéz M, Tan A, Flaherty M, Miura P, Dirksen RT, Chakkalakal JV

eLife.. 2017 June 66 Epub 06/06/2017.

CD73 Controls Extracellular Adenosine Generation in the Trigeminal Nociceptive Nerves.

Liu X, Ma L, Zhang S, Ren Y, Dirksen RT

Journal of dental research.. 2017 June 96 (6):671-677. Epub 02/16/2017.

Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.

Linsley JW, Hsu IU, Groom L, Yarotskyy V, Lavorato M, Horstick EJ, Linsley D, Wang W, Franzini-Armstrong C, Dirksen RT, Kuwada JY

Proceedings of the National Academy of Sciences of the United States of America.. 2017 January 10114 (2):E228-E236. Epub 12/21/2016.

Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease.

Skov M, Dirksen RT

The Journal of general physiology.. 2017 January 149 (1):49-53. Epub 12/09/2016.

Orai1 enhances muscle endurance by promoting fatigue-resistant type I fiber content but not through acute store-operated Ca2+ entry.

Carrell EM, Coppola AR, McBride HJ, Dirksen RT

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2016 December 30 (12):4109-4119. Epub 09/01/2016.

Genetic biomarkers for the risk of seizures in long QT syndrome.

Auerbach DS, McNitt S, Gross RA, Zareba W, Dirksen RT, Moss AJ

Neurology.. 2016 October 1887 (16):1660-1668. Epub 07/27/2016.

Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.

Carrell ST, Carrell EM, Auerbach D, Pandey SK, Bennett CF, Dirksen RT, Thornton CA

Human molecular genetics.. 2016 October 125 (19):4328-4338. Epub 08/13/2016.

Mitochondrial Flash: Integrative Reactive Oxygen Species and pH Signals in Cell and Organelle Biology.

Wang W, Gong G, Wang X, Wei-LaPierre L, Cheng H, Dirksen RT, Sheu SS

Antioxidants & redox signaling.. 2016 September 2025 (9):534-49. Epub 07/14/2016.

Neuronal NTPDase3 Mediates Extracellular ATP Degradation in Trigeminal Nociceptive Pathway.

Ma L, Trinh T, Ren Y, Dirksen RT, Liu X

PloS one.. 2016 11 (10):e0164028. Epub 10/05/2016.

Age-dependent uncoupling of mitochondria from Ca2? release units in skeletal muscle.

Pietrangelo L, D'Incecco A, Ainbinder A, Michelucci A, Kern H, Dirksen RT, Boncompagni S, Protasi F

Oncotarget.. 2015 November 36 (34):35358-71. Epub 1900 01 01.

Ca2+ Binding/Permeation via Calcium Channel, CaV1.1, Regulates the Intracellular Distribution of the Fatty Acid Transport Protein, CD36, and Fatty Acid Metabolism.

Georgiou DK, Dagnino-Acosta A, Lee CS, Griffin DM, Wang H, Lagor WR, Pautler RG, Dirksen RT, Hamilton SL

The Journal of biological chemistry.. 2015 September 25290 (39):23751-65. Epub 08/05/2015.

External Dentin Stimulation Induces ATP Release in Human Teeth.

Liu X, Wang C, Fujita T, Malmstrom HS, Nedergaard M, Ren YF, Dirksen RT

Journal of dental research.. 2015 September 94 (9):1259-66. Epub 06/30/2015.

Antioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.

Michelucci A, Paolini C, Canato M, Wei-Lapierre L, Pietrangelo L, De Marco A, Reggiani C, Dirksen RT, Protasi F

Anesthesiology.. 2015 September 123 (3):603-17. Epub 1900 01 01.

Inducible depletion of adult skeletal muscle stem cells impairs the regeneration of neuromuscular junctions.

Liu W, Wei-LaPierre L, Klose A, Dirksen RT, Chakkalakal JV

eLife.. 2015 August 274 Epub 08/27/2015.

New method for determining total calcium content in tissue applied to skeletal muscle with and without calsequestrin.

Lamboley CR, Kake Guena SA, Touré F, Hébert C, Yaddaden L, Nadeau S, Bouchard P, Wei-LaPierre L, Lainé J, Rousseau EC, Frenette J, Protasi F, Dirksen RT, Pape PC

The Journal of general physiology.. 2015 February 145 (2):127-53. Epub 1900 01 01.

Role of Mitofusin-2 in mitochondrial localization and calcium uptake in skeletal muscle.

Ainbinder A, Boncompagni S, Protasi F, Dirksen RT

Cell calcium.. 2015 January 57 (1):14-24. Epub 11/15/2014.

Ca(2+) permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca(2+) signaling to sustain muscle function.

Lee CS, Dagnino-Acosta A, Yarotskyy V, Hanna A, Lyfenko A, Knoblauch M, Georgiou DK, Poché RA, Swank MW, Long C, Ismailov II, Lanner J, Tran T, Dong K, Rodney GG, Dickinson ME, Beeton C, Zhang P, Dirksen RT, Hamilton SL

Skeletal muscle. 2015 5 :4. Epub 01/29/2015.

Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.

Paolini C, Quarta M, Wei-LaPierre L, Michelucci A, Nori A, Reggiani C, Dirksen RT, Protasi F

Skeletal muscle. 2015 5 :10. Epub 04/18/2015.

Regions of ryanodine receptors that influence activation by the dihydropyridine receptor ?1a subunit.

Rebbeck RT, Willemse H, Groom L, Casarotto MG, Board PG, Beard NA, Dirksen RT, Dulhunty AF

Skeletal muscle. 2015 5 :23. Epub 07/22/2015.

Monovalent cationic channel activity in the inner membrane of nuclei from skeletal muscle fibers.

Yarotskyy V, Dirksen RT

Biophysical journal.. 2014 November 4107 (9):2027-36. Epub 1900 01 01.

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Riazi S, Kraeva N, Muldoon SM, Dowling J, Ho C, Petre MA, Parness J, Dirksen RT, Rosenberg H

Canadian journal of anaesthesia = Journal canadien d'anesthe?sie.. 2014 November 61 (11):1040-9. Epub 09/05/2014.

Cheng et al. reply.

Cheng H, Wang W, Wang X, Sheu SS, Dirksen RT, Dong MQ

Nature.. 2014 October 23514 (7523):E14-5. Epub 1900 01 01.

Triadopathies: an emerging class of skeletal muscle diseases.

Dowling JJ, Lawlor MW, Dirksen RT

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2014 October 11 (4):773-85. Epub 1900 01 01.

Adrenergic signaling regulates mitochondrial Ca2+ uptake through Pyk2-dependent tyrosine phosphorylation of the mitochondrial Ca2+ uniporter.

O-Uchi J, Jhun BS, Xu S, Hurst S, Raffaello A, Liu X, Yi B, Zhang H, Gross P, Mishra J, Ainbinder A, Kettlewell S, Smith GL, Dirksen RT, Wang W, Rizzuto R, Sheu SS

Antioxidants & redox signaling.. 2014 August 2021 (6):863-79. Epub 06/25/2014.

Characterization of ryanodine receptor type 1 single channel activity using "on-nucleus" patch clamp.

Wagner LE, Groom LA, Dirksen RT, Yule DI

Cell calcium.. 2014 August 56 (2):96-107. Epub 06/06/2014.

Enhanced Ca²? influx from STIM1-Orai1 induces muscle pathology in mouse models of muscular dystrophy.

Goonasekera SA, Davis J, Kwong JQ, Accornero F, Wei-LaPierre L, Sargent MA, Dirksen RT, Molkentin JD

Human molecular genetics.. 2014 July 1523 (14):3706-15. Epub 02/20/2014.

Mena associates with Rac1 and modulates connexin 43 remodeling in cardiomyocytes.

Ram R, Wescott AP, Varandas K, Dirksen RT, Blaxall BC

American journal of physiology. Heart and circulatory physiology.. 2014 January 1306 (1):H154-9. Epub 11/01/2013.

RGK proteins: fashioning muscle with “Rad” new brakes.

Yarotskyy V, Dirksen RT

Channels.. 2014 8 (4):286-7. Epub 1900 01 01.

Murine Fig4 is dispensable for muscle development but required for muscle function.

Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ

Skeletal muscle. 2013 September 13 (1):21. Epub 09/01/2013.

Respective contribution of mitochondrial superoxide and pH to mitochondria-targeted circularly permuted yellow fluorescent protein (mt-cpYFP) flash activity.

Wei-Lapierre L, Gong G, Gerstner BJ, Ducreux S, Yule DI, Pouvreau S, Wang X, Sheu SS, Cheng H, Dirksen RT, Wang W

The Journal of biological chemistry.. 2013 April 12288 (15):10567-77. Epub 03/01/2013.

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Kraeva N, Zvaritch E, Rossi AE, Goonasekera SA, Zaid H, Frodis W, Kraev A, Dirksen RT, Maclennan DH, Riazi S

Neuromuscular disorders : NMD.. 2013 February 23 (2):120-32. Epub 11/24/2012.

Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Lefebvre R, Legrand C, Groom L, Dirksen RT, Jacquemond V

PloS one.. 2013 8 (1):e54042. Epub 01/07/2013.

Accelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death.

Yarotskyy V, Protasi F, Dirksen RT

PloS one.. 2013 8 (10):e77633. Epub 10/15/2013.

Orai1-dependent calcium entry promotes skeletal muscle growth and limits fatigue.

Wei-Lapierre L, Carrell EM, Boncompagni S, Protasi F, Dirksen RT

Nature communications.. 2013 4 :2805. Epub 1900 01 01.

Temperature and RyR1 regulate the activation rate of store-operated Ca²+ entry current in myotubes.

Yarotskyy V, Dirksen RT

Biophysical journal.. 2012 July 18103 (2):202-11. Epub 07/17/2012.

Perspectives on: SGP symposium on mitochondrial physiology and medicine: mitochondria take center stage.

Sheu SS, Dirksen RT, Pugh EN

The Journal of general physiology.. 2012 June 139 (6):391-3. Epub 1900 01 01.

Perspectives on: SGP symposium on mitochondrial physiology and medicine: mitochondrial superoxide flashes: from discovery to new controversies.

Wei L, Dirksen RT

The Journal of general physiology.. 2012 June 139 (6):425-34. Epub 1900 01 01.

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

Tang ZZ, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, Moxley RT, Dirksen RT, Thornton CA

Human molecular genetics.. 2012 March 1521 (6):1312-24. Epub 12/02/2011.

Expression of ecto-ATPase NTPDase2 in human dental pulp.

Liu X, Yu L, Wang Q, Pelletier J, Fausther M, Sévigny J, Malmström HS, Dirksen RT, Ren YF

Journal of dental research.. 2012 March 91 (3):261-7. Epub 12/14/2011.

AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.

Lanner JT, Georgiou DK, Dagnino-Acosta A, Ainbinder A, Cheng Q, Joshi AD, Chen Z, Yarotskyy V, Oakes JM, Lee CS, Monroe TO, Santillan A, Dong K, Goodyear L, Ismailov II, Rodney GG, Dirksen RT, Hamilton SL

Nature medicine.. 2012 January 818 (2):244-51. Epub 01/08/2012.

Adrenergic signaling controls RGK-dependent trafficking of cardiac voltage-gated L-type Ca2+ channels through PKD1.

Jhun BS, O-Uchi J, Wang W, Ha CH, Zhao J, Kim JY, Wong C, Dirksen RT, Lopes CM, Jin ZG

Circulation research.. 2012 January 6110 (1):59-70. Epub 11/10/2011.

Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.

Loy RE, Lueck JD, Mostajo-Radji MA, Carrell EM, Dirksen RT

PloS one.. 2012 7 (11):e49757. Epub 11/12/2012.

The 65th Symposium of the Society for General Physiologists: energizing research in mitochondrial physiology and medicine.

Sheu SS, Dirksen RT, Pugh EN

The Journal of general physiology.. 2011 December 138 (6):563-7. Epub 1900 01 01.

Response to "A critical evaluation of cpYFP as a probe for superoxide".

Huang Z, Zhang W, Fang H, Zheng M, Wang X, Xu J, Cheng H, Gong G, Wang W, Dirksen RT, Sheu SS

Free radical biology & medicine.. 2011 November 1551 (10):1937-40. Epub 08/30/2011.

Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.

Lefebvre R, Legrand C, González-Rodríguez E, Groom L, Dirksen RT, Jacquemond V

The Journal of physiology.. 2011 November 15589 (Pt 22):5361-82. Epub 10/03/2011.

Differential impact of mitochondrial positioning on mitochondrial Ca(2+) uptake and Ca(2+) spark suppression in skeletal muscle.

Rossi AE, Boncompagni S, Wei L, Protasi F, Dirksen RT

American journal of physiology. Cell physiology.. 2011 November 301 (5):C1128-39. Epub 08/17/2011.

Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.

Groom L, Muldoon SM, Tang ZZ, Brandom BW, Bayarsaikhan M, Bina S, Lee HS, Qiu X, Sambuughin N, Dirksen RT

Anesthesiology.. 2011 November 115 (5):938-45. Epub 1900 01 01.

Mitochondrial superoxide flashes: metabolic biomarkers of skeletal muscle activity and disease.

Wei L, Salahura G, Boncompagni S, Kasischke KA, Protasi F, Sheu SS, Dirksen RT

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2011 September 25 (9):3068-78. Epub 06/06/2011.

Single channel characterization of the mitochondrial ryanodine receptor in heart mitoplasts.

Ryu SY, Beutner G, Kinnally KW, Dirksen RT, Sheu SS

The Journal of biological chemistry.. 2011 June 17286 (24):21324-9. Epub 04/27/2011.

Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, Zvaritch E, MacLennan DH, Meissner G, Melzer W, Dirksen RT

The Journal of general physiology.. 2011 January 137 (1):43-57. Epub 12/13/2010.

The elusive role of the SPRY2 domain in RyR1.

Tae H, Wei L, Willemse H, Mirza S, Gallant EM, Board PG, Dirksen RT, Casarotto MG, Dulhunty A

Channels.. 2011 5 (2):148-60. Epub 03/01/2011.

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.

Boncompagni S, Loy RE, Dirksen RT, Franzini-Armstrong C

Aging cell.. 2010 December 9 (6):958-70. Epub 10/21/2010.

Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.

Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT

The Journal of general physiology.. 2010 December 136 (6):597-613. Epub 11/15/2010.

Emerging questions about the macromolecular machines of muscle.

Dirksen RT, Pugh EN

The Journal of general physiology.. 2010 July 136 (1):3-5. Epub 1900 01 01.

Mitochondrial ryanodine receptors and other mitochondrial Ca2+ permeable channels.

Ryu SY, Beutner G, Dirksen RT, Kinnally KW, Sheu SS

FEBS letters.. 2010 May 17584 (10):1948-55. Epub 01/21/2010.

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H

Neuromuscular disorders : NMD.. 2010 March 20 (3):166-73. Epub 01/18/2010.

Ryanodinopathies: RyR-Linked Muscle Diseases.

Wei L, Dirksen RT

Current topics in membranes.. 2010 66 :139-67. Epub 07/25/2010.

The 63rd Symposium of the Society of General Physiologists: "muscles" instead of squid at Woods Hole.

Dirksen RT, Bannister RA

The Journal of general physiology.. 2009 December 134 (6):453-5. Epub 1900 01 01.

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, Dirksen RT, Thornton CA

Science.. 2009 July 17325 (5938):336-9. Epub 1900 01 01.

Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscle.

Dirksen RT

The Journal of physiology.. 2009 July 1587 (Pt 13):3139-47. Epub 04/30/2009.

Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice.

Dainese M, Quarta M, Lyfenko AD, Paolini C, Canato M, Reggiani C, Dirksen RT, Protasi F

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2009 June 23 (6):1710-20. Epub 02/23/2009.

Sarcoplasmic reticulum-mitochondrial through-space coupling in skeletal muscle.

Dirksen RT

Applied physiology, nutrition, and metabolism = Physiologie appliquée, nutrition et métabolisme.. 2009 June 34 (3):389-95. Epub 1900 01 01.

Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+* calmodulins.

Fallon JL, Baker MR, Xiong L, Loy RE, Yang G, Dirksen RT, Hamilton SL, Quiocho FA

Proceedings of the National Academy of Sciences of the United States of America.. 2009 March 31106 (13):5135-40. Epub 03/11/2009.

A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.

Andronache Z, Hamilton SL, Dirksen RT, Melzer W

Proceedings of the National Academy of Sciences of the United States of America.. 2009 March 17106 (11):4531-6. Epub 02/25/2009.

Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling.

Kimura T, Lueck JD, Harvey PJ, Pace SM, Ikemoto N, Casarotto MG, Dirksen RT, Dulhunty AF

Cell calcium.. 2009 March 45 (3):264-74. Epub 01/07/2009.

Mitochondria are linked to calcium stores in striated muscle by developmentally regulated tethering structures.

Boncompagni S, Rossi AE, Micaroni M, Beznoussenko GV, Polishchuk RS, Dirksen RT, Protasi F

Molecular biology of the cell.. 2009 February 20 (3):1058-67. Epub 11/26/2008.

Epac and phospholipase Cepsilon regulate Ca2+ release in the heart by activation of protein kinase Cepsilon and calcium-calmodulin kinase II.

Oestreich EA, Malik S, Goonasekera SA, Blaxall BC, Kelley GG, Dirksen RT, Smrcka AV

The Journal of biological chemistry.. 2009 January 16284 (3):1514-22. Epub 10/27/2008.

Sarcoplasmic reticulum-mitochondrial symbiosis: bidirectional signaling in skeletal muscle.

Rossi AE, Boncompagni S, Dirksen RT

Exercise and sport sciences reviews.. 2009 January 37 (1):29-35. Epub 1900 01 01.

A recessive CCD mutation in RyR1 (V4849I) increases voltage-gated Ca2+ release and SR Ca2+ release flux following homozygous expression in dyspedic myotubes.

Lyfenko, AD; Schuhmeier, RP; Avila, G; Melzer, W; and Dirksen, RT.

2009; In preparation.

A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ leak in muscle fibers of Y522S RyR1 knock-in mice.

Andronache, Z.; Hamilton, SL; Dirksen, RT; and Melzer, W.

Proc. Natl. Acad. Sci. 2009; In Press.

Anesthetic- and heat-induced sudden death in calsequestrin-1 knockout mice.

Marco, M; Quarta, M; Lyfenko, AD; Paolini, C; Canato, M; Riggiani, C; Dirksen, RT; and Protasi, F.

FASEB J. 2009; In Press.

Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+ calmodulin.

Fallon, JL; Baker, MR; Loy, RE; Xiong, L; Yang, G; Dirksen, RT; Hamilton, SL; Quiocho, FA.

Proc. Natl. Acad. Sci. 2009; In Press.

Reversal of RNA-dominant disease by antisense displacement of protein sequestered on repetitive RNA.

Wheeler, TM; Sobczak, K; Lueck, JD; Osborne, RJ; Lix, X; Dirksen, RT; Thornton, CA.

2009; In Revision.

Characterization and temporal development of cores in a mouse model of malignant hyperthermia.

Boncompagni, S.; Rossi, A.E.; Micaroni, M.; Hamilton, S.L.; Dirksen, R.T.; Franzini-Armstrong, C.; Protasi, F.

Proc Natl Acad Sci USA. 2009; 106(51): 21996-2001.

Superoxide flashes: illuminating new insights into cardiac ischemia/reperfusion injury.

Sheu SS, Wang W, Cheng H, Dirksen RT

Future cardiology.. 2008 November 14 (6):551-554. Epub 1900 01 01.

Differential dependence of store-operated and excitation-coupled Ca2+ entry in skeletal muscle on STIM1 and Orai1.

Lyfenko AD, Dirksen RT

The Journal of physiology.. 2008 October 15586 (20):4815-24. Epub 09/04/2008.

Superoxide flashes in single mitochondria.

Wang W, Fang H, Groom L, Cheng A, Zhang W, Liu J, Wang X, Li K, Han P, Zheng M, Yin J, Wang W, Mattson MP, Kao JP, Lakatta EG, Sheu SS, Ouyang K, Chen J, Dirksen RT, Cheng H

Cell.. 2008 July 25134 (2):279-90. Epub 1900 01 01.

RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knock-in mice.

Durham, WJ; Aracena-Parks, P; Long, C*; Rossi, AE; Goonasekera, SA; Boncompagni, S; Gilman, CP; Galvan, DL; Baker, M; Shirokova, N; Protasi, P; Dirksen, RT; and Hamilton, S.

Cell. 2008; 133: 1-13.

Superoxide flashes in single mitochondria.

Wang, W; Fang, W; Groom, L; Cheng, A; Zhang, W; Liu, J; Wang, X; Li, K; Han, P; Zhang, M; Yin, J; Wang, W; Mattson, MP; Kao, JPY; Lakatta, EG; Sheu, S-S; Ouyang, K; Chen, J; Dirksen, RT; and Cheng, H.

Cell. 2008; 134: 279-290.

Differential dependence of store-operated and excitation-coupled Ca2+ entry in skeletal muscle on Stim1 and Orai1.

Lyfenko, AD; and Dirksen, RT.

J. Physiol. 2008; .

Heat- and anesthetic-induced malignant hyperthermia in calsequestrin-1 knockout mice.

Marco, M; Quarta, M; Lyfenko, AD; Paolini, C; Canato, M; Dirksen, RT; Reggiani, C; and Protasi, F.

2008; Submitted.

Reversal of RNA-dominant disease by antisense displacement of protein sequestered on repetitive RNA.

Wheeler, TM; Sobczak, K; Lueck, JD; Osborne, RJ; Lin, X; Dirksen, RT; and Thornton, CA.

2008; Submitted.

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.

Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA

The Journal of clinical investigation.. 2007 December 117 (12):3952-7. Epub 1900 01 01.

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.

Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagni S, Boncompagi S, Kraev A, Gramolini AO, Dirksen RT, Franzini-Armstrong C, Seidman CE, Seidman JG, Maclennan DH

Proceedings of the National Academy of Sciences of the United States of America.. 2007 November 20104 (47):18537-42. Epub 11/14/2007.

EPAC regulation of cardiac EC coupling.

Smrcka AV, Oestreich EA, Blaxall BC, Dirksen RT

The Journal of physiology.. 2007 November 1584 (Pt 3):1029-31. Epub 09/20/2007.

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling.

Goonasekera SA, Beard NA, Groom L, Kimura T, Lyfenko AD, Rosenfeld A, Marty I, Dulhunty AF, Dirksen RT

The Journal of general physiology.. 2007 October 130 (4):365-78. Epub 09/10/2007.

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.

Lueck JD, Lungu C, Mankodi A, Osborne RJ, Welle SL, Dirksen RT, Thornton CA

American journal of physiology. Cell physiology.. 2007 April 292 (4):C1291-7. Epub 11/29/2006.

Epac-mediated activation of phospholipase C(epsilon) plays a critical role in beta-adrenergic receptor-dependent enhancement of Ca2+ mobilization in cardiac myocytes.

Oestreich EA, Wang H, Malik S, Kaproth-Joslin KA, Blaxall BC, Kelley GG, Dirksen RT, Smrcka AV

The Journal of biological chemistry.. 2007 February 23282 (8):5488-95. Epub 12/17/2006.

A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction.

Kimura T, Pace SM, Wei L, Beard NA, Dirksen RT, Dulhunty AF

The Biochemical journal.. 2007 January 1401 (1):317-24. Epub 1900 01 01.

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT

Human mutation.. 2007 January 28 (1):61-8. Epub 1900 01 01.

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.

Lueck JD, Mankodi A, Swanson MS, Thornton CA, Dirksen RT

The Journal of general physiology.. 2007 January 129 (1):79-94. Epub 12/11/2006.

Epac-mediated Activation of Phospholipase C? Plays a Critical Role in ?-adrenergic Receptor Dependent Enhancement of Ca2+ Mobilization in Cardiac Myocytes.

Oestreich, EA; Wang, H*; Malik, S; Kaproth-Joslin, KA; Blaxall, BC; Kelley, GG; Dirksen, RT; and Smrcka, AV.

J. Biol. Chem. 2007; 282: 5488-5495.

Two central core disease deletions in the C-terminal region of RyR1 alter muscle EC coupling by distinct mechanisms.

Lyfenko, AD; Ducreux, S; Wang, Y; Xu, L; Zorzato, F; Ferreiro, A; Meissner, G; Treves, S; and Dirksen, RT.

Hum. Mutat. 2007; 28: 61-68.

A Truncation in the RYR1 Gene Associated with Central Core Lesions in Skeletal Muscle Fibers.

Rossi, D; De Smet, P; Lyfenko, A; Galli, L; Lorenzini, S; Franci, D; Petrioli, F; Orrico, A; Tegazzin, V; Dirksen, RT; and Sorrentino, V.

J. Med. Genet. 2007; 44: e67.

Chloride channelopathy in myotonic dystrophy resulting from loss of post-transcriptional regulation for CLCN1.

Lueck, JD; Lungu, C; Mankodi, A; Osborne, RJ; Welle, SL; Dirksen, RT; and Thornton, CA.

Am. J. Physiol. 2007; 292: C1291-C1297.

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation-contraction coupling.

Goonasekera, S; Beard, N; Groom, L; Kimura, T; Lyfenko, AF; Rosenfeld, A; Marty, I; Dulhunty, A; and Dirksen, RT.

J. Gen. Physiol. 2007; 130: 365-378.

Correction of ClC-1 splicing eliminates the chloride channelopathy and myotonia in myotonic dystrophy.

Wheeler, TM; Lueck, JD; Swanson, MS; Dirksen, RT; and Thornton, CA.

J. Clin. Invest. 2007; 117: 3952-3957.

A Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.

Zvaritch, E; Depreux, F; Kraeva, N; Loy, RE; Goonasekera, SA; Boncompagi, S; Kraev, A; Gramolini, AO; Dirksen, RT; Franzini-Armstrong, C; Seidman, CE; Seidman, JG; and MacLennan, DH.

Proc. Natl. Acad. Sci. 2007; 104: 18537-18542.

Identification of cysteines involved in S-nitrosylation, S-glutathionylation, and oxidation to disulfides in ryanodine receptor type 1.

Aracena-Parks P, Goonasekera SA, Gilman CP, Dirksen RT, Hidalgo C, Hamilton SL

The Journal of biological chemistry.. 2006 December 29281 (52):40354-68. Epub 10/27/2006.

Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy.

Kannankeril PJ, Mitchell BM, Goonasekera SA, Chelu MG, Zhang W, Sood S, Kearney DL, Danila CI, De Biasi M, Wehrens XH, Pautler RG, Roden DM, Taffet GE, Dirksen RT, Anderson ME, Hamilton SL

Proceedings of the National Academy of Sciences of the United States of America.. 2006 August 8103 (32):12179-84. Epub 07/27/2006.

Sarcoplasmic reticulum: the dynamic calcium governor of muscle.

Rossi AE, Dirksen RT

Muscle & nerve.. 2006 June 33 (6):715-31. Epub 1900 01 01.

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, Pessah IN, Zhang P, Bhattacharjee MB, Dirksen RT, Hamilton SL

FASEB journal : official publication of the Federation of American Societies for Experimental Biology.. 2006 February 20 (2):329-30. Epub 11/11/2005.

Malignant Hyperthermia Susceptibility

Rosenberg, H.; Dirksen, R.T.;.

GeneReviews. 2006; .

Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy

Kannankeril,P.J.; Mitchell,B.M.; Goonasekera,S.A.; Chelu,M.G.; Zhang,W.; Sood,S.; Kearney,D.L.; Danila,C.I.; De Biasi,M.; Wehrens,X.H.; Pautler,R.G.; Roden,D.M.; Taffet,G.E.; Dirksen,R.T.; Anderson,M.E.; Hamilton,S.L.;.

Proceedings National Academy Sciences United States of America. 2006; 103: 12179-12184.

Identification of cysteines involved in S-nitrosylation, S-glutathionylation, and oxidation to disulfides in RyR1.

Aracena-Parks, P; Goonasekera, SA; Gilman, C; Dirksen, RT; Hidalgo, C; and Hamilton, SL.

J. Biol. Chem. 2006; 281: 40354-40368.

Phospholipase C epsilon modulates beta-adrenergic receptor-dependent cardiac contraction and inhibits cardiac hypertrophy.

Wang H, Oestreich EA, Maekawa N, Bullard TA, Vikstrom KL, Dirksen RT, Kelley GG, Blaxall BC, Smrcka AV

Circulation research.. 2005 December 997 (12):1305-13. Epub 11/17/2005.

Reconstitution of local Ca2+ signaling between cardiac L-type Ca2+ channels and ryanodine receptors: insights into regulation by FKBP12.6.

Goonasekera SA, Chen SR, Dirksen RT

American journal of physiology. Cell physiology.. 2005 December 289 (6):C1476-84. Epub 07/27/2005.

Type 1 ryanodine receptor in cardiac mitochondria: transducer of excitation-metabolism coupling.

Beutner G, Sharma VK, Lin L, Ryu SY, Dirksen RT, Sheu SS

Biochimica et biophysica acta.. 2005 November 101717 (1):1-10. Epub 10/11/2005.

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S

Human molecular genetics.. 2005 August 114 (15):2189-200. Epub 06/22/2005.

Rapamycin and FK506 reduce skeletal muscle voltage sensor expression and function.

Avila G, Dirksen RT

Cell calcium.. 2005 July 38 (1):35-44. Epub 1900 01 01.

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Dirksen RT, Avila G

Biophysical journal.. 2004 November 87 (5):3193-204. Epub 09/03/2004.

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.

Lyfenko AD, Goonasekera SA, Dirksen RT

Biochemical and biophysical research communications.. 2004 October 1322 (4):1256-66. Epub 1900 01 01.

Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT

American journal of physiology. Cell physiology.. 2004 October 287 (4):C1094-102. Epub 06/16/2004.

Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1).

Du GG, Avila G, Sharma P, Khanna VK, Dirksen RT, MacLennan DH

The Journal of biological chemistry.. 2004 September 3279 (36):37566-74. Epub 06/28/2004.

ASK1 associates with troponin T and induces troponin T phosphorylation and contractile dysfunction in cardiomyocytes.

He X, Liu Y, Sharma V, Dirksen RT, Waugh R, Sheu SS, Min W

The American journal of pathology.. 2003 July 163 (1):243-51. Epub 1900 01 01.

FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes.

Avila G, Lee EH, Perez CF, Allen PD, Dirksen RT

The Journal of biological chemistry.. 2003 June 20278 (25):22600-8. Epub 04/17/2003.

Potentiated L-type Ca2+ channels rectify.

Leuranguer V, Dirksen RT, Beam KG

The Journal of general physiology.. 2003 June 121 (6):541-50. Epub 05/12/2003.

The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease.

Avila G, O'Connell KM, Dirksen RT

The Journal of general physiology.. 2003 April 121 (4):277-86. Epub 03/17/2003.

Suramin interacts with the calmodulin binding site on the ryanodine receptor, RYR1.

Papineni RV, O'Connell KM, Zhang H, Dirksen RT, Hamilton SL

The Journal of biological chemistry.. 2002 December 20277 (51):49167-74. Epub 10/02/2002.

Calmodulin binding to the 3614-3643 region of RyR1 is not essential for excitation-contraction coupling in skeletal myotubes.

O'Connell KM, Yamaguchi N, Meissner G, Dirksen RT

The Journal of general physiology.. 2002 September 120 (3):337-47. Epub 1900 01 01.

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

Dirksen RT, Avila G

Trends in cardiovascular medicine.. 2002 July 12 (5):189-97. Epub 1900 01 01.

Bi-directional coupling between dihydropyridine receptors and ryanodine receptors.

Dirksen RT

Frontiers in bioscience : a journal and virtual library.. 2002 March 17 :d659-70. Epub 03/01/2002.

Mitochondrial permeability transition and calcium dynamics in striatal neurons upon intense NMDA receptor activation.

Alano CC, Beutner G, Dirksen RT, Gross RA, Sheu SS

Journal of neurochemistry.. 2002 February 80 (3):531-8. Epub 1900 01 01.

Bi-directional coupling between dihydropyridine receptors and ryanodine receptors

Dirksen,R.T.;.

Frontiers Bioscience. 2002; 7:d659-70.: d659-d670.

Reactive oxygen/nitrogen species and the aged brain: radical impact of ion channel function.

Dirksen RT

Neurobiology of aging.. 2002 23 (5):837-9; discussion 841-2. Epub 1900 01 01.

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

Avila G, Dirksen RT

The Journal of general physiology.. 2001 September 118 (3):277-90. Epub 1900 01 01.

Ca2+ release through ryanodine receptors regulates skeletal muscle L-type Ca2+ channel expression.

Avila G, O'Connell KM, Groom LA, Dirksen RT

The Journal of biological chemistry.. 2001 May 25276 (21):17732-8. Epub 01/22/2001.

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Avila G, O'Brien JJ, Dirksen RT

Proceedings of the National Academy of Sciences of the United States of America.. 2001 March 2798 (7):4215-20. Epub 1900 01 01.

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

Avila,G.; O'Brien,J.J.; Dirksen,R.T.;.

Proceedings National Academy Sciences United States of America. 2001; 98(7): 4215-4220.

Prolonged depolarization promotes fast gating kinetics of L-type Ca2+ channels in mouse skeletal myotubes.

O'Connell KM, Dirksen RT

The Journal of physiology.. 2000 December 15529 Pt 3 (Pt 3):647-59. Epub 1900 01 01.

Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel.

Avila G, Dirksen RT

The Journal of general physiology.. 2000 April 115 (4):467-80. Epub 1900 01 01.

Low serum promotes maturation of excitation-contraction coupling in myotubes.

Suda N, Dirksen RT, Gonzalez A, Beam KG

Pflu?gers Archiv : European journal of physiology.. 2000 March 439 (5):555-8. Epub 1900 01 01.

Prolonged depolarization promotes fast gating kinetics of L-type Ca2+ channels in mouse skeletal myotubes

O'Connell,K.M.; Dirksen,R.T.;.

Journal Physiology. 2000; 529: 647-659.

Role of calcium permeation in dihydropyridine receptor function. Insights into channel gating and excitation-contraction coupling.

Dirksen RT, Beam KG

The Journal of general physiology.. 1999 September 114 (3):393-403. Epub 1900 01 01.

The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor.

Grabner M, Dirksen RT, Suda N, Beam KG

The Journal of biological chemistry.. 1999 July 30274 (31):21913-9. Epub 1900 01 01.

Tagging with green fluorescent protein reveals a distinct subcellular distribution of L-type and non-L-type Ca2+ channels expressed in dysgenic myotubes.

Grabner M, Dirksen RT, Beam KG

Proceedings of the National Academy of Sciences of the United States of America.. 1998 February 1795 (4):1903-8. Epub 1900 01 01.

The S5-S6 linker of repeat I is a critical determinant of L-type Ca2+ channel conductance.

Dirksen RT, Nakai J, Gonzalez A, Imoto K, Beam KG

Biophysical journal.. 1997 September 73 (3):1402-9. Epub 1900 01 01.

Unitary behavior of skeletal, cardiac, and chimeric L-type Ca2+ channels expressed in dysgenic myotubes.

Dirksen RT, Beam KG

The Journal of general physiology.. 1996 June 107 (6):731-42. Epub 1900 01 01.

Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor.

Nakai J, Dirksen RT, Nguyen HT, Pessah IN, Beam KG, Allen PD

Nature.. 1996 March 7380 (6569):72-5. Epub 1900 01 01.

Single calcium channel behavior in native skeletal muscle.

Dirksen RT, Beam KG

The Journal of general physiology.. 1995 February 105 (2):227-47. Epub 1900 01 01.

Autonomic modulation of action potential and tension in guinea pig papillary muscles.

Arreola J, Dirksen RT, Perez-Cornejo P, Piech KM, Sheu SS

European journal of pharmacology.. 1994 December 27271 (2-3):309-17. Epub 1900 01 01.

Molecular diversity of voltage-dependent calcium channel.

Mori Y, Niidome T, Fujita Y, Mynlieff M, Dirksen RT, Beam KG, Iwabe N, Miyata T, Furutama D, Furuichi T

Annals of the New York Academy of Sciences.. 1993 December 20707 :87-108. Epub 1900 01 01.

Primary structure and functional expression of the omega-conotoxin-sensitive N-type calcium channel from rabbit brain.

Fujita Y, Mynlieff M, Dirksen RT, Kim MS, Niidome T, Nakai J, Friedrich T, Iwabe N, Miyata T, Furuichi T

Neuron.. 1993 April 10 (4):585-98. Epub 1900 01 01.

Ca2+ current and Ca2+ transients under action potential clamp in guinea pig ventricular myocytes.

Arreola J, Dirksen RT, Shieh RC, Williford DJ, Sheu SS

The American journal of physiology.. 1991 August 261 (2 Pt 1):C393-7. Epub 1900 01 01.

Receptor-mediated inotropic effect in heart. Role of sodium-calcium exchange.

Sheu SS, Sharma VK, Korth M, Moscucci A, Dirksen RT, Jou MJ

Annals of the New York Academy of Sciences.. 1991 639 :398-407. Epub 1900 01 01.

Antipsychotic pimozide is a potent Ca2+ channel blocker in heart.

Enyeart JJ, Dirksen RT, Sharma VK, Williford DJ, Sheu SS

Molecular pharmacology.. 1990 May 37 (5):752-7. Epub 1900 01 01.

Modulation of ventricular action potential by alpha 1-adrenoceptors and protein kinase C.

Dirksen RT, Sheu SS

The American journal of physiology.. 1990 March 258 (3 Pt 2):H907-11. Epub 1900 01 01.

Effects of the affinity ligands 14-beta-chloroacetylnaltrexone and 14-beta-bromoacetamidomorphine on [3H]-dihydromorphine binding sites in rat brain.

Reichman M, Dirksen R, Abood LG, Gala D

Biochemical pharmacology.. 1986 November 1535 (22):3995-8. Epub 1900 01 01.

Books

Medical Genetics Information Resource [database online] (2006)

Chapter: Malignant hyperthermia Susceptibility is: GeneReviews at GeneTests.

Authors: Rosenberg, H; and Dirksen, RT

Publisher: University of Washington, Seattle 2006

Ryanodine Receptors: Structure, Function and Dysfunction in Clinical Disease (2005)

Chapter: Pathophysiology of muscle disorders linked to mutations in the skeletal muscle ryanodine receptor.

Authors: Dirksen RT and Avila G

Publisher: Springer 2005