Results 21 to 30 of about 11,986 (188)
Pathological RyR1 Mutations to Identify RyR1 Functional Domains [PDF]
Biophysical Journal, 2011 Muscle contraction is achieved when an efficient excitation signal at the plasma membrane triggers intracellular calcium release. This process called “excitation-contraction (E-C) coupling” relies on a multimolecular protein complex, the calcium release complex.
Cacheux, Marine +5 more
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RYR1 causing distal myopathy [PDF]
Molecular Genetics & Genomic Medicine, 2017 AbstractBackgroundCongenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness ...
Ruple S. Laughlin +3 more
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Orphanet Journal of Rare Diseases, 2020 Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a ...
Tokunbor A. Lawal +4 more
doaj +1 more source
RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation
Acta Neuropathologica Communications, 2021 The type 1 ryanodine receptor (RyR1) is an intracellular calcium (Ca2+) release channel on the sarcoplasmic/endoplasmic reticulum that is required for skeletal muscle contraction.
Qi Yuan +9 more
doaj +1 more source
eLife, 2022 To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive ...
Alexis Ruiz +9 more
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SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]
, 2009 This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core +2 more sources
3D Mapping of the SPRY2 domain of ryanodine receptor 1 by single-particle cryo-EM. [PDF]
PLoS ONE, 2011 The type 1 skeletal muscle ryanodine receptor (RyR1) is principally responsible for Ca(2+) release from the sarcoplasmic reticulum and for the subsequent muscle contraction. The RyR1 contains three SPRY domains.
Alex Perálvarez-Marín +5 more
doaj +1 more source
The elusive role of the SPRY2 domain in RyR1 [PDF]
Channels, 2011 The second of three SPRY domains (SPRY2, S1085 -V1208) located in the skeletal muscle ryanodine receptor (RyR1) is contained within regions of RyR1 that influence EC coupling and bind to imperatoxin A, a toxin probe of RyR1 channel gating. We examined the binding of the F loop (P1107-A1121) in SPRY2 to the ASI/basic region in RyR1 (T3471-G3500 ...
Tae, HanShen +8 more
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In vivo RyR1 reduction in muscle triggers a core-like myopathy
Acta Neuropathologica Communications, 2020 Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct functional whole organism consequences of ...
Laurent Pelletier +17 more
doaj +1 more source
A structural model of the pore-forming region of the skeletal muscle ryanodine receptor (RyR1). [PDF]
PLoS Computational Biology, 2009 Ryanodine receptors (RyRs) are ion channels that regulate muscle contraction by releasing calcium ions from intracellular stores into the cytoplasm. Mutations in skeletal muscle RyR (RyR1) give rise to congenital diseases such as central core disease ...
Srinivas Ramachandran +4 more
doaj +1 more source