Matches in SemOpenAlex for { <https://semopenalex.org/work/W2965963804> ?p ?o ?g. }
- W2965963804 abstract "Mutations affecting ryanodine receptor (RyR) calcium release channels commonly underlie congenital myopathies. Although these channels are known principally for their essential roles in muscle contractility, mutations in the human RYR1 gene result in a broad spectrum of phenotypes, including muscle weakness, altered proportions of fiber types, anomalous muscle fibers with cores or centrally placed nuclei, and dysmorphic craniofacial features. Currently, it is unknown which phenotypes directly reflect requirements for RyRs and which result secondarily to aberrant muscle function. To identify biological processes requiring RyR function, skeletal muscle development was analyzed in zebrafish embryos harboring protein-null mutations. RyR channels contribute to both muscle fiber development and function. Loss of some RyRs had modest effects, altering muscle fiber-type specification in the embryo without compromising viability. In addition, each RyR-encoding gene contributed to normal swimming behavior and muscle function. The RyR channels do not function in a simple additive manner. For example, although isoform RyR1a is sufficient for muscle contraction in the absence of RyR1b, RyR1a normally attenuates the activity of the co-expressed RyR1b channel in slow muscle. RyR3 also acts to modify the functions of other RyR channels. Furthermore, diminished RyR-dependent contractility affects both muscle fiber maturation and craniofacial development. These findings help to explain some of the heterogeneity of phenotypes that accompany RyR1 mutations in humans." @default.
- W2965963804 created "2019-08-13" @default.
- W2965963804 creator A5011997875 @default.
- W2965963804 creator A5015120819 @default.
- W2965963804 creator A5028760495 @default.
- W2965963804 creator A5061627903 @default.
- W2965963804 creator A5091815885 @default.
- W2965963804 date "2019-01-01" @default.
- W2965963804 modified "2023-09-26" @default.
- W2965963804 title "Interactions among Ryanodine Receptor isotypes contribute to muscle fiber type development and function" @default.
- W2965963804 cites W1485297825 @default.
- W2965963804 cites W1641967096 @default.
- W2965963804 cites W1884824544 @default.
- W2965963804 cites W1965195943 @default.
- W2965963804 cites W1967049004 @default.
- W2965963804 cites W1968887442 @default.
- W2965963804 cites W1976781053 @default.
- W2965963804 cites W1977848450 @default.
- W2965963804 cites W1980323810 @default.
- W2965963804 cites W1981239255 @default.
- W2965963804 cites W1981511382 @default.
- W2965963804 cites W1982430817 @default.
- W2965963804 cites W1985988350 @default.
- W2965963804 cites W1993999630 @default.
- W2965963804 cites W2000586937 @default.
- W2965963804 cites W2011405092 @default.
- W2965963804 cites W2015093433 @default.
- W2965963804 cites W2016266725 @default.
- W2965963804 cites W2017415739 @default.
- W2965963804 cites W2022729995 @default.
- W2965963804 cites W2026768427 @default.
- W2965963804 cites W2028886140 @default.
- W2965963804 cites W2036145275 @default.
- W2965963804 cites W2036331049 @default.
- W2965963804 cites W2039547987 @default.
- W2965963804 cites W2043093337 @default.
- W2965963804 cites W2054540102 @default.
- W2965963804 cites W2056942342 @default.
- W2965963804 cites W2058324461 @default.
- W2965963804 cites W2059260083 @default.
- W2965963804 cites W2062152852 @default.
- W2965963804 cites W2063081959 @default.
- W2965963804 cites W2063406546 @default.
- W2965963804 cites W2064678876 @default.
- W2965963804 cites W2064813976 @default.
- W2965963804 cites W2067297047 @default.
- W2965963804 cites W2068166332 @default.
- W2965963804 cites W2071903766 @default.
- W2965963804 cites W2073727327 @default.
- W2965963804 cites W2073958059 @default.
- W2965963804 cites W2075154319 @default.
- W2965963804 cites W2077078701 @default.
- W2965963804 cites W2077176055 @default.
- W2965963804 cites W2077904918 @default.
- W2965963804 cites W2077935150 @default.
- W2965963804 cites W2078360969 @default.
- W2965963804 cites W2085362627 @default.
- W2965963804 cites W2086998851 @default.
- W2965963804 cites W2087903930 @default.
- W2965963804 cites W2106731957 @default.
- W2965963804 cites W2111629550 @default.
- W2965963804 cites W2112906555 @default.
- W2965963804 cites W2116635624 @default.
- W2965963804 cites W2118064602 @default.
- W2965963804 cites W2125213900 @default.
- W2965963804 cites W2125295969 @default.
- W2965963804 cites W2125349610 @default.
- W2965963804 cites W2125908423 @default.
- W2965963804 cites W2128314512 @default.
- W2965963804 cites W2129974225 @default.
- W2965963804 cites W2130025116 @default.
- W2965963804 cites W2133872729 @default.
- W2965963804 cites W2137283585 @default.
- W2965963804 cites W2146034579 @default.
- W2965963804 cites W2146587884 @default.
- W2965963804 cites W2148183033 @default.
- W2965963804 cites W2151289280 @default.
- W2965963804 cites W2152064075 @default.
- W2965963804 cites W2163073874 @default.
- W2965963804 cites W2164814468 @default.
- W2965963804 cites W2491672409 @default.
- W2965963804 cites W2619817759 @default.
- W2965963804 cites W2620568304 @default.
- W2965963804 cites W2626898924 @default.
- W2965963804 cites W2763177166 @default.
- W2965963804 cites W2768417561 @default.
- W2965963804 cites W2787055137 @default.
- W2965963804 cites W2799480108 @default.
- W2965963804 cites W2884078888 @default.
- W2965963804 cites W2943130619 @default.
- W2965963804 cites W2945999007 @default.
- W2965963804 cites W4210450218 @default.
- W2965963804 cites W4211119711 @default.
- W2965963804 cites W4235541210 @default.
- W2965963804 cites W917998901 @default.
- W2965963804 cites W957843181 @default.
- W2965963804 doi "https://doi.org/10.1242/dmm.038844" @default.
- W2965963804 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6906632" @default.
- W2965963804 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31383689" @default.
- W2965963804 hasPublicationYear "2019" @default.