Recent Publications from the Dirksen Lab
Recent Publications from the Dirksen Lab
- Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.; Skeletal muscle. 2026 Jan 09.
- 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.
- Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy.; Cells; Vol 14(17). 2025 Sep 04.
- NAD+ dyshomeostasis in RYR1-related myopathies.; Skeletal muscle; Vol 15(1), pp. 22. 2025 Aug 22.
- Epigenetic erosion of H4K20me1 induced by inflammation drives aged stem cell ferroptosis.; Nature aging. 2025 Jun 30.
- Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.; Human molecular genetics. 2025 Apr 07.
- Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy.; Neuromuscular disorders : NMD; Vol 50, pp. 105339. 2025 Mar 28.
- Basic Science and Pathogenesis.; Alzheimer's & dementia : the journal of the Alzheimer's Association; Vol 20 Suppl 1, pp. e090717. 2024 Dec.
- An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.; The EMBO journal. 2024 Oct 17.
- 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.
- DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid β proteotoxicity.; Free radical biology & medicine. 2024 Sep 22.
- Individuals and Families Affected by RYR1-Related Diseases - The Patient/Caregiver Perspective.; Journal of neuromuscular diseases. 2024 Aug 14.
- DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid β proteotoxicity.; bioRxiv : the preprint server for biology. 2024 Aug 09.
- 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.
- Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression.; Nature communications; Vol 15(1), pp. 6152. 2024 Jul 21.
- 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.
- Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.; Scientific reports; Vol 13(1), pp. 14659. 2023 Sep 05.
- Glutathione supports lipid abundance in vivo.; bioRxiv : the preprint server for biology. 2023 Feb 11.
- Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.; Human molecular genetics. 2023 Jan 31.
- Cortical Microglia Dynamics Are Conserved During Voluntary Wheel Running.; Journal of applied physiology (Bethesda, Md. : 1985). 2023 Jan 16.
- 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.
- 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.
- Excitation-contraction coupling in cardiac, skeletal, and smooth muscle.; The Journal of general physiology; Vol 154(9). 2022 Aug 19.
- 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.
- Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.; Human molecular genetics. 2022 Jul 15.
- Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.; Nature communications; Vol 13(1). 2022 Jun 13.
- Endurance exercise attenuates juvenile irradiation-induced skeletal muscle functional decline and mitochondrial stress.; Skeletal muscle; Vol 12(1). 2022 Apr 12.
- Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.; Antioxidants (Basel, Switzerland); Vol 11(4). 2022 Mar 31.
- Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.; Disease models & mechanisms. 2022 Mar 16.
- 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.
- Constitutive assembly of Ca2+ entry units in soleus muscle from calsequestrin knockout mice.; The Journal of general physiology; Vol 154(12). 2022 Jan 12.
- 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.
- Altered Ca2+ Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.; Metabolites; Vol 11(7). 2021 Jun 28.
- How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators.; Cell calcium; Vol 97. 2021 Apr 19.
- 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.
- Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.; Skeletal muscle; Vol 10(1). 2020 Nov 16.
- Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.; Nature communications; Vol 11(1). 2020 Oct 09.
- 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.
- Genomic Screening for Malignant Hyperthermia Susceptibility.; Anesthesiology. 2020 Sep 07.
- Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.; eLife; Vol 9. 2020 Mar 30.
- Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.; The Journal of clinical investigation. 2020 Feb 10.
- 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.
- PharmGKB summary: very important pharmacogene information for CACNA1S.; Pharmacogenetics and genomics; Vol 30(2). 2020 Feb.
- 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.
- Mouse model of severe recessive RYR1-related myopathy.; Human molecular genetics. 2019 May 20.
- Introduction.; Archives of biochemistry and biophysics; Vol 669. 2019 May 18.
- 4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.; Muscle & nerve. 2019 May 15.
- Isolating a reverse-mode ATP synthase-dependent mechanism of mitoflash activation.; The Journal of general physiology. 2019 Apr 22.
- Skeletal muscle mitoflashes, pH, and the role of uncoupling protein-3.; Archives of biochemistry and biophysics; Vol 663. 2019 Mar 15.
- Substrate-dependent and cyclophilin D-independent regulation of mitochondrial flashes in skeletal and cardiac muscle.; Archives of biochemistry and biophysics. 2019 Mar 11.