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Search life-sciences literature (45,104,145 articles, preprints and more)

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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
EMBO J, 17 Oct 2024
Cited by: 0 articles | PMID: 39420094
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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 J, 38(20):e70120, 01 Oct 2024
Cited by: 0 articles | PMID: 39466056
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DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction in C. elegans amyloid β proteotoxicity.
Peng W, Chung KB, Lawrence BP, O'Banion MK, Dirksen RT, Wojtovich AP, Onukwufor JO
Free Radic Biol Med, 224:785-796, 22 Sep 2024
Cited by: 0 articles | PMID: 39317269
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DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction inC. elegansamyloid β proteotoxicity
Peng W, Chung KB, Lawrence BP, O’Banion MK, Dirksen RT, Wojtovich AP, Onukwufor JO
bioRxiv, 09 Aug 2024
Cited by: 0 articles | PPR: PPR892553
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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, [...] Harris IS
Nat Commun, 15(1):6152, 21 Jul 2024
Cited by: 0 articles | PMID: 39034312 | PMCID: PMC11271484
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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.
Di Fonso A, Serano M, He M, Leigh J, Rastelli G, Dirksen RT, Protasi F, Pietrangelo L
Biomedicines, 12(8):1651, 24 Jul 2024
Cited by: 0 articles | PMID: 39200116 | PMCID: PMC11351919
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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
Hum Mol Genet, 33(3):254-269, 01 Jan 2024
Cited by: 0 articles | PMID: 37930228 | PMCID: PMC10800018
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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
J Neuromuscul Dis, 11(5):1067-1083, 01 Jan 2024
Cited by: 0 articles | PMID: 39150833 | PMCID: PMC11380281
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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
J Appl Physiol (1985), 136(1):89-108, 16 Nov 2023
Cited by: 2 articles | PMID: 37969082
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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, 29 Sep 2023
Cited by: 0 articles | PPR: PPR734436
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Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.
Magyar ZÉ, Hevesi J, Groom L, Dirksen RT, Almássy J
Sci Rep, 13(1):14659, 05 Sep 2023
Cited by: 1 article | PMID: 37670077 | PMCID: PMC10480487
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Glutathione supports lipid abundancein vivo
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, [...] Harris IS
bioRxiv, 12 Feb 2023
Cited by: 0 articles | PPR: PPR615632
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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, RYR1 Myopathy Consortium
J Neuromuscul Dis, 10(1):135-154, 01 Jan 2023
Cited by: 2 articles | PMID: 36404556 | PMCID: PMC10023165
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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
Front Immunol, 13:1026574, 07 Nov 2022
Cited by: 1 article | PMID: 36420272 | PMCID: PMC9677122
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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
Hum Mol Genet, 31(23):4087-4093, 01 Nov 2022
Cited by: 8 articles | PMID: 35849058
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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
J Gen Physiol, 154(12):e202213114, 12 Oct 2022
Cited by: 5 articles | PMID: 36222861 | PMCID: PMC9565155
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Excitation-contraction coupling in cardiac, skeletal, and smooth muscle.
Dirksen RT, Eisner DA, Ríos E, Sipido KR
J Gen Physiol, 154(9):e202213244, 19 Aug 2022
Cited by: 6 articles | PMID: 35984377 | PMCID: PMC9396671
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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
J Gen Physiol, 154(9):e202213081, 08 Aug 2022
Cited by: 11 articles | PMID: 35939054 | PMCID: PMC9365874
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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 LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG
bioRxiv, 25 Jun 2022
Cited by: 0 articles | PPR: PPR510844
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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
Nat Commun, 13(1):3403, 13 Jun 2022
Cited by: 4 articles | PMID: 35697689 | PMCID: PMC9192596
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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
Dis Model Mech, 15(5):dmm049437, 09 May 2022
Cited by: 4 articles | PMID: 35293586 | PMCID: PMC9118044
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Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.
Onukwufor JO, Dirksen RT, Wojtovich AP
Antioxidants (Basel), 11(4):692, 31 Mar 2022
Cited by: 21 articles | PMID: 35453377 | PMCID: PMC9027385
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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
Skelet Muscle, 12(1):8, 12 Apr 2022
Cited by: 4 articles | PMID: 35414122 | PMCID: PMC9004104
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A novel zebrafish model of SPEG-related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafish
Espinosa KG, Geissah S, Groom L, Volaptti J, Scott IC, Dirksen RT, Zhao M, Dowling JJ
bioRxiv, 23 Dec 2021
Cited by: 0 articles | PPR: PPR435727
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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
J Gen Physiol, 154(9):e202112976, 15 Dec 2021
Cited by: 4 articles | PMID: 34910094 | PMCID: PMC8679509
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1-25 of 180 results

1 2 3 Next ...

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

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

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

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

DMT1 knockout abolishes ferroptosis induced mitochondrial dysfunction inC. elegansamyloid β proteotoxicity

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

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.

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

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

Cortical microglia dynamics are conserved during voluntary wheel running.

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

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

Glutathione supports lipid abundancein vivo

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

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

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

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

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

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

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility

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

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

Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.

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

A novel zebrafish model of SPEG-related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafish

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

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