Matches in SemOpenAlex for { <https://semopenalex.org/work/W2004162642> ?p ?o ?g. }
- W2004162642 endingPage "3529" @default.
- W2004162642 startingPage "3516" @default.
- W2004162642 abstract "Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patients fail to survive beyond the first year of life due to severe muscle weakness. There are no specific therapies to combat this muscle weakness. We have generated the first knock-in mouse model for severe nemaline myopathy by replacing a normal allele of the α-skeletal actin gene with a mutated form (H40Y), which causes severe nemaline myopathy in humans. The Acta1(H40Y) mouse has severe muscle weakness manifested as shortened lifespan, significant forearm and isolated muscle weakness and decreased mobility. Muscle pathologies present in the human patients (e.g. nemaline rods, fibre atrophy and increase in slow fibres) were detected in the Acta1(H40Y) mouse, indicating that it is an excellent model for severe nemaline myopathy. Mating of the Acta1(H40Y) mouse with hypertrophic four and a half LIM domains protein 1 and insulin-like growth factor-1 transgenic mice models increased forearm strength and mobility, and decreased nemaline pathologies. Dietary L-tyrosine supplements also alleviated the mobility deficit and decreased the chronic repair and nemaline rod pathologies. These results suggest that L-tyrosine may be an effective treatment for muscle weakness and immobility in nemaline myopathy." @default.
- W2004162642 created "2016-06-24" @default.
- W2004162642 creator A5000773876 @default.
- W2004162642 creator A5005523254 @default.
- W2004162642 creator A5015504090 @default.
- W2004162642 creator A5015649059 @default.
- W2004162642 creator A5031351857 @default.
- W2004162642 creator A5033642687 @default.
- W2004162642 creator A5040205128 @default.
- W2004162642 creator A5043400738 @default.
- W2004162642 creator A5048353848 @default.
- W2004162642 creator A5049796264 @default.
- W2004162642 creator A5051004823 @default.
- W2004162642 creator A5059277019 @default.
- W2004162642 creator A5084205155 @default.
- W2004162642 creator A5084846015 @default.
- W2004162642 date "2011-11-08" @default.
- W2004162642 modified "2023-10-18" @default.
- W2004162642 title "Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy" @default.
- W2004162642 cites W1497427077 @default.
- W2004162642 cites W1562705858 @default.
- W2004162642 cites W1586288730 @default.
- W2004162642 cites W1588665322 @default.
- W2004162642 cites W167621268 @default.
- W2004162642 cites W1965196833 @default.
- W2004162642 cites W1972785770 @default.
- W2004162642 cites W1974608010 @default.
- W2004162642 cites W1998938845 @default.
- W2004162642 cites W1999370812 @default.
- W2004162642 cites W2002629378 @default.
- W2004162642 cites W2007943964 @default.
- W2004162642 cites W2019565038 @default.
- W2004162642 cites W2021595628 @default.
- W2004162642 cites W2021984762 @default.
- W2004162642 cites W2042998086 @default.
- W2004162642 cites W2043226123 @default.
- W2004162642 cites W2043226349 @default.
- W2004162642 cites W2043847930 @default.
- W2004162642 cites W2047115871 @default.
- W2004162642 cites W2048109118 @default.
- W2004162642 cites W2050704020 @default.
- W2004162642 cites W2055078063 @default.
- W2004162642 cites W2061075528 @default.
- W2004162642 cites W2061240635 @default.
- W2004162642 cites W2065521378 @default.
- W2004162642 cites W2069373786 @default.
- W2004162642 cites W2070995844 @default.
- W2004162642 cites W2072184218 @default.
- W2004162642 cites W2072798501 @default.
- W2004162642 cites W2075093684 @default.
- W2004162642 cites W2075349529 @default.
- W2004162642 cites W2077332064 @default.
- W2004162642 cites W2083700023 @default.
- W2004162642 cites W2086842197 @default.
- W2004162642 cites W2091676411 @default.
- W2004162642 cites W2092995304 @default.
- W2004162642 cites W2093670623 @default.
- W2004162642 cites W2101137162 @default.
- W2004162642 cites W2101579071 @default.
- W2004162642 cites W2103269474 @default.
- W2004162642 cites W2107957492 @default.
- W2004162642 cites W2108154210 @default.
- W2004162642 cites W2113172898 @default.
- W2004162642 cites W2113806391 @default.
- W2004162642 cites W2125248199 @default.
- W2004162642 cites W2127882689 @default.
- W2004162642 cites W2129174488 @default.
- W2004162642 cites W2133531034 @default.
- W2004162642 cites W2140435781 @default.
- W2004162642 cites W2145073400 @default.
- W2004162642 cites W2147048454 @default.
- W2004162642 cites W2148816258 @default.
- W2004162642 cites W2152008380 @default.
- W2004162642 cites W2153292879 @default.
- W2004162642 cites W2156585263 @default.
- W2004162642 cites W2159911744 @default.
- W2004162642 cites W2160388107 @default.
- W2004162642 cites W2168530630 @default.
- W2004162642 cites W2169300133 @default.
- W2004162642 cites W2417875073 @default.
- W2004162642 doi "https://doi.org/10.1093/brain/awr274" @default.
- W2004162642 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22067542" @default.
- W2004162642 hasPublicationYear "2011" @default.
- W2004162642 type Work @default.
- W2004162642 sameAs 2004162642 @default.
- W2004162642 citedByCount "51" @default.
- W2004162642 countsByYear W20041626422012 @default.
- W2004162642 countsByYear W20041626422013 @default.
- W2004162642 countsByYear W20041626422014 @default.
- W2004162642 countsByYear W20041626422015 @default.
- W2004162642 countsByYear W20041626422016 @default.
- W2004162642 countsByYear W20041626422017 @default.
- W2004162642 countsByYear W20041626422018 @default.
- W2004162642 countsByYear W20041626422019 @default.
- W2004162642 countsByYear W20041626422020 @default.
- W2004162642 countsByYear W20041626422021 @default.
- W2004162642 countsByYear W20041626422022 @default.
- W2004162642 countsByYear W20041626422023 @default.