Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive
RYR1
congenital myopathy
excitation contraction coupling
genetics
genomics
mass spectrometry
mutations
proteomic profiling
ryanodine receptor mutations
skeletal muscle
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
02 03 2023
02 03 2023
Historique:
received:
21
09
2022
accepted:
01
03
2023
medline:
28
3
2023
pubmed:
3
3
2023
entrez:
2
3
2023
Statut:
epublish
Résumé
Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as well as specific sets of proteins. Congenital myopathies are a group of muscle diseases leading to a weak muscle phenotype caused by mutations in a number of genes including
Identifiants
pubmed: 36862731
doi: 10.7554/eLife.83618
pii: 83618
pmc: PMC10038659
doi:
pii:
Substances chimiques
Ryanodine Receptor Calcium Release Channel
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023, Eckhardt, Ruiz et al.
Déclaration de conflit d'intérêts
JE, AR, SK, MF, HM, AS, ST, FZ No competing interests declared
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