The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09209-z
Abstract: ObjectiveThe histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.MethodsWe performed a retrospective multi-centre cohort study focussing on the histopathological… read more here.
Keywords: due ryr1; malignant hyperthermia; ryr1 mutations; ryr1 ... See more keywords
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Anesthesia"
DOI: 10.1007/s00540-018-2451-6
Abstract: PurposeThe aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility.MethodsDNA testing of family members… read more here.
Keywords: susceptibility; 293 cells; genetic functional; ryr1 ... See more keywords
Resolved Structural States of Calmodulin in Regulation of Skeletal Muscle Calcium Release.
Sign Up to like & getrecommendations! Published in 2020 at "Biophysical journal"
DOI: 10.1016/j.bpj.2020.01.010
Abstract: Calmodulin (CaM) is proposed to modulate activity of the skeletal muscle sarcoplasmic reticulum (SR) calcium release channel (ryanodine receptor, RyR1 isoform) via a mechanism dependent on the conformation of RyR1-bound CaM. However, the correlation between… read more here.
Keywords: skeletal muscle; cam; ryr1; conformation ... See more keywords
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2017.06.029
Abstract: Subarachnoid hemorrhage (SAH) remains a challenging neurosurgical disease. The ryanodine receptor type 1 Ca2+ channel (RyR1) plays a crucial role in vasoconstriction and hemostasis. Mutations of the encoding gene, RYR1, are known to cause susceptibility… read more here.
Keywords: subarachnoid hemorrhage; ryr1; prevalence; receptor type ... See more keywords
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2122140119
Abstract: Significance Skeletal muscle contraction is governed by ryanodine receptor 1 (RyR1) channels. Ryanodine receptors (RyRs) are the largest ion channels known, with multiple interconnected regulatory domains. Single point mutations of RyRs cause life-threatening diseases, and… read more here.
Keywords: receptor ryr1; ryanodine receptor; ryr1; mutation ... See more keywords
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz025
Abstract: Here we characterized a mouse model knocked-in for a frameshift mutation in RYR1 exon 36 (p.Gln1970fsX16) that is isogenic to that identified in one parent of a severely affected patient with recessively inherited multiminicore disease.… read more here.
Keywords: reduction; muscle; ryr1 protein; ryr1 ... See more keywords
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.1101/2022.09.26.509474
Abstract: Skeletal muscle is a highly structured and differentiated tissue responsible for voluntary movement and metabolic regulation. Muscles however, are heterogeneous and depending on their location, speed of contraction, fatiguability and function, can be broadly subdivided… read more here.
Keywords: quantitative proteomic; muscles wild; congenital myopathies; ryr1 ... See more keywords
A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications
Sign Up to like & getrecommendations! Published in 2020 at "Neuropathology"
DOI: 10.1111/neup.12648
Abstract: Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and… read more here.
Keywords: novel homozygous; core disease; ryr1; dusty core ... See more keywords
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01384-x
Abstract: 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 spectrum of rare… read more here.
Keywords: model systems; ryr1; model; review ... See more keywords
Expression of Concern: RyR1 and RyR3 isoforms provide distinct intracellular Ca2+ signals in HEK 293 cells.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of cell science"
DOI: 10.1242/jcs.260837
Abstract: The authors state that this error does not significantly impact the interpretation of the article, the data reliability or the reader’s understanding of the paper and that the scholarly integrity of the article remains intact.… read more here.
Keywords: expression concern; ryr3; ryr3 isoforms; ryr1 ... See more keywords
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.73718
Abstract: 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… read more here.
Keywords: ryr1 mutations; muscle; mouse model; muscle strength ... See more keywords