URMC / Labs / Dirksen Lab / Publications

Recent Publications from the Dirksen Lab

1. He M
2. Riazi S
3. van den Bersselaar LR
4. Islander G
5. Gillies R
6. Hellblom A
7. Voermans NC
8. Temurziev S
9. Jungbluth H
10. Dirksen RT
Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.; Skeletal muscle. 2026 Jan 09.
1. Weninger G
2. Dridi H
3. Reiken S
4. Yuan Q
5. Zhao N
6. Groom L
7. Leigh J
8. Liu Y
9. Tchagou C
10. Kang J
11. Chang A
12. Luna-Figueroa E
13. Miotto MC
14. Wronska A
15. Dirksen RT
16. Marks AR
Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation.; The Journal of clinical investigation; Vol 135(24). 2025 Dec 15.
1. O'Connor TN
2. Zhao N
3. Orciuoli HM
4. Malik S
5. Brasile A
6. Pietrangelo L
7. He M
8. Groom L
9. Leigh J
10. Mahamed Z
11. Liang C
12. Protasi F
13. Dirksen RT
Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy.; Cells; Vol 14(17). 2025 Sep 04.
1. Lawal TA
2. Riekhof W
3. Groom L
4. Varma P
5. Chrismer IC
6. Kokkinis A
7. Grunseich C
8. Witherspoon JW
9. Razaqyar MS
10. Sinaii N
11. Meilleur KG
12. Xiang L
13. Buzkova J
14. Euro L
15. Mohassel P
16. Dirksen RT
17. Todd JJ
NAD+ dyshomeostasis in RYR1-related myopathies.; Skeletal muscle; Vol 15(1), pp. 22. 2025 Aug 22.
1. Blanc RS
2. Shah N
3. Hachmer S
4. Salama NAS
5. Meng FW
6. Mousaei A
7. Puri G
8. Hwang JH
9. Wacker EE
10. Yang BA
11. Aguilar CA
12. Chakkalakal JV
13. Onukwufor JO
14. Murphy PJ
15. Calvi LM
16. Dilworth FJ
17. Dirksen RT
Epigenetic erosion of H4K20me1 induced by inflammation drives aged stem cell ferroptosis.; Nature aging. 2025 Jun 30.
1. Ying EZ
2. Douglass A
3. Hawari MA
4. Groom L
5. Stowell K
6. Dirksen RT
7. Johnston JJ
8. Biesecker LG
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.; Human molecular genetics. 2025 Apr 07.
1. Onofre-Oliveira P
2. Groom L
3. Liang C
4. Cowling B
5. Ghahramani-Seno MM
6. Dirksen RT
7. Dowling JJ
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy.; Neuromuscular disorders : NMD; Vol 50, pp. 105339. 2025 Mar 28.
1. Peng W
2. Osabutey M
3. Okoye CN
4. Chung K
5. Trojanczyk L
6. Le L
7. Selim NA
8. Milliken AS
9. Al-Qazzaz A
10. Majewska AK
11. Wojtovich AP
12. Dirksen RT
13. O'Banion MK
14. Onukwufor JO
Basic Science and Pathogenesis.; Alzheimer's & dementia : the journal of the Alzheimer's Association; Vol 20 Suppl 1, pp. e090717. 2024 Dec.
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.