Publications

• 1. Zhao N
  2. Michelucci A
  3. Pietrangelo L
  4. Malik S
  5. Groom L
  6. Leigh J
  7. O'Connor TN
  8. Takano T
  9. Kingsley PD
  10. Palis J
  11. Boncompagni S
  12. Protasi F
  13. Dirksen RT
  An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.; The EMBO journal. 2024 Oct 17.
• 1. Liang C
  2. Malik S
  3. He M
  4. Groom L
  5. Ture SK
  6. O'Connor TN
  7. Morrell CN
  8. Dirksen RT
  Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.; FASEB journal : official publication of the Federation of American Societies for Experimental Biology; Vol 38(20), pp. e70120. 2024 Oct.
• 1. Peng W
  2. Chung KB
  3. Lawrence BP
  4. O'Banion MK
  5. Dirksen RT
  6. Wojtovich AP
  7. Onukwufor JO
  DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid β proteotoxicity.; Free radical biology & medicine. 2024 Sep 22.
• 1. van de Camp SAJH
  2. Stinissen L
  3. Huseth A
  4. Simon B
  5. Ryan J
  6. Sarkozy A
  7. Van Petegem F
  8. Goldberg MF
  9. Jungbluth H
  10. Böhm J
  11. Oortwijn W
  12. Dirksen RT
  13. Voermans NC
  Individuals and Families Affected by RYR1-Related Diseases - The Patient/Caregiver Perspective.; Journal of neuromuscular diseases. 2024 Aug 14.
• 1. Peng W
  2. Chung KB
  3. Lawrence BP
  4. O'Banion MK
  5. Dirksen RT
  6. Wojtovich AP
  7. Onukwufor JO
  DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid β proteotoxicity.; bioRxiv : the preprint server for biology. 2024 Aug 09.
• 1. Di Fonso A
  2. Serano M
  3. He M
  4. Leigh J
  5. Rastelli G
  6. Dirksen RT
  7. Protasi F
  8. Pietrangelo L
  Constitutive, Muscle-Specific Orai1 Knockout Results in the Incomplete Assembly of Ca2+ Entry Units and a Reduction in the Age-Dependent Formation of Tubular Aggregates.; Biomedicines; Vol 12(8). 2024 Jul 24.
• 1. Asantewaa G
  2. Tuttle ET
  3. Ward NP
  4. Kang YP
  5. Kim Y
  6. Kavanagh ME
  7. Girnius N
  8. Chen Y
  9. Rodriguez K
  10. Hecht F
  11. Zocchi M
  12. Smorodintsev-Schiller L
  13. Scales TQ
  14. Taylor K
  15. Alimohammadi F
  16. Duncan RP
  17. Sechrist ZR
  18. Agostini-Vulaj D
  19. Schafer XL
  20. Chang H
  21. Smith ZR
  22. O'Connor TN
  23. Whelan S
  24. Selfors LM
  25. Crowdis J
  26. Gray GK
  27. Bronson RT
  28. Brenner D
  29. Rufini A
  30. Dirksen RT
  31. Hezel AF
  32. Huber AR
  33. Munger J
  34. Cravatt BF
  35. Vasiliou V
  36. Cole CL
  37. DeNicola GM
  38. Harris IS
  Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression.; Nature communications; Vol 15(1), pp. 6152. 2024 Jul 21.
• 1. O'Connor TN
  2. Zhao N
  3. Orciuoli HM
  4. Brasile A
  5. Pietrangelo L
  6. He M
  7. Groom L
  8. Leigh J
  9. Mahamed Z
  10. Liang C
  11. Malik S
  12. Protasi F
  13. Dirksen RT
  Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy.; bioRxiv : the preprint server for biology. 2023 Sep 29.
• 1. Magyar ZÉ
  2. Hevesi J
  3. Groom L
  4. Dirksen RT
  5. Almássy J
  Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.; Scientific reports; Vol 13(1), pp. 14659. 2023 Sep 05.
• 1. Asantewaa G
  2. Tuttle ET
  3. Ward NP
  4. Kang YP
  5. Kim Y
  6. Kavanagh ME
  7. Girnius N
  8. Chen Y
  9. Duncan R
  10. Rodriguez K
  11. Hecht F
  12. Zocchi M
  13. Smorodintsev-Schiller L
  14. Scales TQ
  15. Taylor K
  16. Alimohammadi F
  17. Sechrist ZR
  18. Agostini-Vulaj D
  19. Schafer XL
  20. Chang H
  21. Smith Z
  22. O'Connor TN
  23. Whelan S
  24. Selfors LM
  25. Crowdis J
  26. Gray GK
  27. Bronson RT
  28. Brenner D
  29. Rufini A
  30. Dirksen RT
  31. Hezel AF
  32. Huber AR
  33. Munger J
  34. Cravatt BF
  35. Vasiliou V
  36. Cole CL
  37. DeNicola GM
  38. Harris IS
  Glutathione supports lipid abundance in vivo.; bioRxiv : the preprint server for biology. 2023 Feb 11.
• 1. Endo Y
  2. Groom L
  3. Wang SM
  4. Pannia E
  5. Griffiths NW
  6. Van Gennip JLM
  7. Ciruna B
  8. Laporte J
  9. Dirksen RT
  10. Dowling JJ
  Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.; Human molecular genetics. 2023 Jan 31.
• 1. Strohm AO
  2. O'Connor TN
  3. Oldfield S
  4. Young S
  5. Hammond C
  6. McCall M
  7. Dirksen RT
  8. Majewska AK
  Cortical Microglia Dynamics Are Conserved During Voluntary Wheel Running.; Journal of applied physiology (Bethesda, Md. : 1985). 2023 Jan 16.
• 1. O'Connor TN
  2. Kallenbach JG
  3. Chakkalakal JV
  4. Dirksen RT
  Exercise attenuates juvenile irradiation-induced skeletal muscle decline by improving calcium handling and decreasing mitochondrial stress.; The Journal of general physiology; Vol 154(9). 2022 Sep 05.
• 1. Wei-LaPierre L
  2. Groom L
  3. Dirksen RT
  Acute exposure to extracellular BTP2 does not inhibit Ca2+ release during EC coupling in intact skeletal muscle fibers.; The Journal of general physiology; Vol 154(9). 2022 Sep 05.
• 1. Dirksen RT
  2. Eisner DA
  3. Ríos E
  4. Sipido KR
  Excitation-contraction coupling in cardiac, skeletal, and smooth muscle.; The Journal of general physiology; Vol 154(9). 2022 Aug 19.
• 1. García-Castañeda M
  2. Michelucci A
  3. Zhao N
  4. Malik S
  5. Dirksen RT
  Postdevelopmental knockout of Orai1 improves muscle pathology in a mouse model of Duchenne muscular dystrophy.; The Journal of general physiology; Vol 154(9). 2022 Aug 08.
• 1. Johnston JJ
  2. Dirksen RT
  3. Girard T
  4. Hopkins PM
  5. Kraeva N
  6. Ognoon M
  7. Radenbaugh KB
  8. Riazi S
  9. Robinson RL
  10. Saddic Iii LA
  11. Sambuughin N
  12. Saxena R
  13. Shepherd S
  14. Stowell K
  15. Weber J
  16. Yoo S
  17. Rosenberg H
  18. Biesecker LG
  Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.; Human molecular genetics. 2022 Jul 15.
• 1. Endo Y
  2. Groom L
  3. Celik A
  4. Kraeva N
  5. Lee CS
  6. Jung SY
  7. Gardner L
  8. Shaw MA
  9. Hamilton SL
  10. Hopkins PM
  11. Dirksen RT
  12. Riazi S
  13. Dowling JJ
  Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.; Nature communications; Vol 13(1). 2022 Jun 13.
• 1. O'Connor TN
  2. Kallenbach JG
  3. Orciuoli HM
  4. Paris ND
  5. Bachman JF
  6. Johnston CJ
  7. Hernady E
  8. Williams JP
  9. Dirksen RT
  10. Chakkalakal JV
  Endurance exercise attenuates juvenile irradiation-induced skeletal muscle functional decline and mitochondrial stress.; Skeletal muscle; Vol 12(1). 2022 Apr 12.
• 1. Onukwufor JO
  2. Dirksen RT
  3. Wojtovich AP
  Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.; Antioxidants (Basel, Switzerland); Vol 11(4). 2022 Mar 31.
• 1. Espinosa KG
  2. Geissah S
  3. Groom L
  4. Volpatti J
  5. Scott IC
  6. Dirksen RT
  7. Zhao M
  8. Dowling JJ
  Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.; Disease models & mechanisms. 2022 Mar 16.
• 1. O'Connor TN
  2. van den Bersselaar LR
  3. Chen YS
  4. Nicolau S
  5. Simon B
  6. Huseth A
  7. Todd JJ
  8. Van Petegem F
  9. Sarkozy A
  10. Goldberg MF
  11. Voermans NC
  12. Dirksen RT
  RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.; Journal of neuromuscular diseases. 2022 Jan 16.
• 1. Michelucci A
  2. Pietrangelo L
  3. Rastelli G
  4. Protasi F
  5. Dirksen RT
  6. Boncompagni S
  Constitutive assembly of Ca2+ entry units in soleus muscle from calsequestrin knockout mice.; The Journal of general physiology; Vol 154(12). 2022 Jan 12.
• 1. Garcia-Hernandez ML
  2. Rangel-Moreno J
  3. Garcia-Castaneda M
  4. Kenney HM
  5. Paine A
  6. Thullen M
  7. Anandarajah AP
  8. Schwarz EM
  9. Dirksen RT
  10. Ritchlin CT
  Dendritic cell-specific transmembrane protein is required for synovitis and bone resorption in inflammatory arthritis.; Frontiers in immunology; Vol 13, pp. 1026574. 2022 Jan 07.
• 1. Michelucci A
  2. Liang C
  3. Protasi F
  4. Dirksen RT
  Altered Ca2+ Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.; Metabolites; Vol 11(7). 2021 Jun 28.
• 1. Baker ML
  2. Dirksen RT
  3. Hamilton SL
  How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators.; Cell calcium; Vol 97. 2021 Apr 19.
• 1. Johnston JJ
  2. Dirksen RT
  3. Girard T
  4. Gonsalves SG
  5. Hopkins PM
  6. Riazi S
  7. Saddic LA
  8. Sambuughin N
  9. Saxena R
  10. Stowell K
  11. Weber J
  12. Rosenberg H
  13. Biesecker LG
  Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.; Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Mar 25.
• 1. Lawal TA
  2. Todd JJ
  3. Witherspoon JW
  4. Bönnemann CG
  5. Dowling JJ
  6. Hamilton SL
  7. Meilleur KG
  8. Dirksen RT
  Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.; Skeletal muscle; Vol 10(1). 2020 Nov 16.
• 1. Wang HJ
  2. Lee CS
  3. Yee RSZ
  4. Groom L
  5. Friedman I
  6. Babcock L
  7. Georgiou DK
  8. Hong J
  9. Hanna AD
  10. Recio J
  11. Choi JM
  12. Chang T
  13. Agha NH
  14. Romero J
  15. Sarkar P
  16. Voermans N
  17. Gaber MW
  18. Jung SY
  19. Baker ML
  20. Pautler RG
  21. Dirksen RT
  22. Riazi S
  23. Hamilton SL
  Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.; Nature communications; Vol 11(1). 2020 Oct 09.
• 1. Michelucci A
  2. Boncompagni S
  3. Pietrangelo L
  4. Takano T
  5. Protasi F
  6. Dirksen RT
  Pre-assembled Ca2+ entry units and constitutively active Ca2+ entry in skeletal muscle of calsequestrin-1 knockout mice.; The Journal of general physiology; Vol 152(10). 2020 Oct 05.
• 1. Biesecker LG
  2. Dirksen RT
  3. Girard T
  4. Hopkins PM
  5. Riazi S
  6. Rosenberg H
  7. Stowell K
  8. Weber J
  Genomic Screening for Malignant Hyperthermia Susceptibility.; Anesthesiology. 2020 Sep 07.
• 1. Volpatti JR
  2. Endo Y
  3. Knox J
  4. Groom L
  5. Brennan S
  6. Noche R
  7. Zuercher WJ
  8. Roy P
  9. Dirksen RT
  10. Dowling JJ
  Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.; eLife; Vol 9. 2020 Mar 30.
• 1. Kim JK
  2. Jha NN
  3. Feng Z
  4. Faleiro MR
  5. Chiriboga CA
  6. Wei-Lapierre L
  7. Dirksen RT
  8. Ko CP
  9. Monani UR
  Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.; The Journal of clinical investigation. 2020 Feb 10.
• 1. Tylock KM
  2. Auerbach DS
  3. Tang ZZ
  4. Thornton CA
  5. Dirksen RT
  Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA.; The Journal of general physiology; Vol 152(2). 2020 Feb 03.
• 1. Sangkuhl K
  2. Dirksen RT
  3. Alvarellos ML
  4. Altman RB
  5. Klein TE
  PharmGKB summary: very important pharmacogene information for CACNA1S.; Pharmacogenetics and genomics; Vol 30(2). 2020 Feb.
• 1. Gonsalves SG
  2. Dirksen RT
  3. Sangkuhl K
  4. Pulk R
  5. Alvarellos M
  6. Vo T
  7. Hikino K
  8. Roden D
  9. Klein TE
  10. Poler SM
  11. Patel S
  12. Caudle KE
  13. Gordon R
  14. Brandom B
  15. Biesecker LG
  Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.; Clinical pharmacology and therapeutics; Vol 105(6). 2019 Jun.
• 1. Brennan S
  2. Garcia-Castañeda M
  3. Michelucci A
  4. Sabha N
  5. Malik S
  6. Groom L
  7. Wei-La-Pierre L
  8. Dowling JJ
  9. Dirksen RT
  Mouse model of severe recessive RYR1-related myopathy.; Human molecular genetics. 2019 May 20.
• 1. Dirksen RT
  2. Wang W
  3. Sheu SS
  Introduction.; Archives of biochemistry and biophysics; Vol 669. 2019 May 18.
• 1. Yue L
  2. Talukder MAH
  3. Gurjar A
  4. Lee JI
  5. Noble M
  6. Dirksen RT
  7. Chakkalakal J
  8. Elfar JC
  4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.; Muscle & nerve. 2019 May 15.
• 1. Wei-LaPierre L
  2. Dirksen RT
  Isolating a reverse-mode ATP synthase-dependent mechanism of mitoflash activation.; The Journal of general physiology. 2019 Apr 22.
• 1. McBride S
  2. Wei-LaPierre L
  3. McMurray F
  4. MacFarlane M
  5. Qiu X
  6. Patten DA
  7. Dirksen RT
  8. Harper ME
  Skeletal muscle mitoflashes, pH, and the role of uncoupling protein-3.; Archives of biochemistry and biophysics; Vol 663. 2019 Mar 15.
• 1. Wei-LaPierre L
  2. Ainbinder A
  3. Tylock KM
  4. Dirksen RT
  Substrate-dependent and cyclophilin D-independent regulation of mitochondrial flashes in skeletal and cardiac muscle.; Archives of biochemistry and biophysics. 2019 Mar 11.
• 1. Michelucci A
  2. Boncompagni S
  3. Pietrangelo L
  4. García-Castañeda M
  5. Takano T
  6. Malik S
  7. Dirksen RT
  8. Protasi F
  Transverse tubule remodeling enhances Orai1-dependent Ca2+ entry in skeletal muscle.; eLife; Vol 8. 2019 Jan 28.
• 1. Dirksen RT
  2. Allen PD
  3. Lopez JR
  Understanding malignant hyperthermia: each move forward opens our eyes to the distance left to travel.; British journal of anaesthesia; Vol 122(1). 2019 Jan.
• 1. Boncompagni S
  2. Michelucci A
  3. Pietrangelo L
  4. Dirksen RT
  5. Protasi F
  Addendum: Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.; Scientific reports; Vol 8(1). 2018 Nov 27.
• 1. Zhang S
  2. Ye D
  3. Ma L
  4. Ren Y
  5. Dirksen RT
  6. Liu X
  Purinergic Signaling Modulates Survival/Proliferation of Human Dental Pulp Stem Cells.; Journal of dental research. 2018 Nov 01.
• 1. Smith CO
  2. Wang YT
  3. Nadtochiy SM
  4. Miller JH
  5. Jonas EA
  6. Dirksen RT
  7. Nehrke K
  8. Brookes PS
  Cardiac metabolic effects of KNa1.2 channel deletion and evidence for its mitochondrial localization.; FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2018 Jun 04.
• 1. Trembley MA
  2. Quijada P
  3. Agullo-Pascual E
  4. Tylock KM
  5. Colpan M
  6. Dirkx RA
  7. Myers JR
  8. Mickelsen DM
  9. de Mesy Bentley K
  10. Rothenberg E
  11. Moravec CS
  12. Alexis JD
  13. Gregorio CC
  14. Dirksen RT
  15. Delmar M
  16. Small EM
  Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.; Circulation. 2018 May 01.
• 1. Maani N
  2. Sabha N
  3. Rezai K
  4. Ramani A
  5. Groom L
  6. Eltayeb N
  7. Mavandadnejad F
  8. Pang A
  9. Russo G
  10. Brudno M
  11. Haucke V
  12. Dirksen RT
  13. Dowling JJ
  Tamoxifen therapy in a murine model of myotubular myopathy.; Nature communications; Vol 9(1). 2018 Jan 19.
• 1. Michelucci A
  2. García-Castañeda M
  3. Boncompagni S
  4. Dirksen RT
  Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.; Cell calcium; Vol 76. 2018 Jan.