FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2111475298> ?p ?o ?g. }

• W2111475298 endingPage "406" @default.
• W2111475298 startingPage "389" @default.
• W2111475298 abstract "Nemaline myopathy is characterized by muscle weakness and the presence of rod-like (nemaline) bodies. The genetic etiology of nemaline myopathy is becoming increasingly understood with mutations in ten genes now known to cause the disease. Despite this, the mechanism by which skeletal muscle weakness occurs remains elusive, with previous studies showing no correlation between the frequency of nemaline bodies and disease severity. To investigate the formation of nemaline bodies and their role in pathogenesis, we generated overexpression and loss-of-function zebrafish models for skeletal muscle α-actin (ACTA1) and nebulin (NEB). We identify three distinct types of nemaline bodies and visualize their formation in vivo, demonstrating these nemaline bodies not only exhibit different subcellular origins, but also have distinct pathological consequences within the skeletal muscle. One subtype is highly dynamic and upon breakdown leads to the accumulation of cytoplasmic actin contributing to muscle weakness. Examination of a Neb-deficient model suggests this mechanism may be common in nemaline myopathy. Another subtype results from a reduction of actin and forms a more stable cytoplasmic body. In contrast, the final type originates at the Z-disk and is associated with myofibrillar disorganization. Analysis of zebrafish and muscle biopsies from ACTA1 nemaline myopathy patients demonstrates that nemaline bodies also possess a different protein signature. In addition, we show that the ACTA1(D286G) mutation causes impaired actin incorporation and localization in the sarcomere. Together these data provide a novel examination of nemaline body origins and dynamics in vivo and identifies pathological changes that correlate with muscle weakness." @default.
• W2111475298 created "2016-06-24" @default.
• W2111475298 creator A5004195717 @default.
• W2111475298 creator A5006397040 @default.
• W2111475298 creator A5008811325 @default.
• W2111475298 creator A5008970099 @default.
• W2111475298 creator A5011152231 @default.
• W2111475298 creator A5017114623 @default.
• W2111475298 creator A5019341134 @default.
• W2111475298 creator A5026256112 @default.
• W2111475298 creator A5026550780 @default.
• W2111475298 creator A5029395389 @default.
• W2111475298 creator A5033335450 @default.
• W2111475298 creator A5035901267 @default.
• W2111475298 creator A5036417435 @default.
• W2111475298 creator A5040599736 @default.
• W2111475298 creator A5042831818 @default.
• W2111475298 creator A5066177252 @default.
• W2111475298 creator A5069274364 @default.
• W2111475298 creator A5071948882 @default.
• W2111475298 date "2015-05-01" @default.
• W2111475298 modified "2023-09-25" @default.
• W2111475298 title "Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function" @default.
• W2111475298 cites W1540112244 @default.
• W2111475298 cites W1560397561 @default.
• W2111475298 cites W1588665322 @default.
• W2111475298 cites W1604994276 @default.
• W2111475298 cites W1768348988 @default.
• W2111475298 cites W1964559628 @default.
• W2111475298 cites W1972863549 @default.
• W2111475298 cites W1973202003 @default.
• W2111475298 cites W1976493941 @default.
• W2111475298 cites W1981870699 @default.
• W2111475298 cites W1982850784 @default.
• W2111475298 cites W1983045080 @default.
• W2111475298 cites W1984120917 @default.
• W2111475298 cites W1984577917 @default.
• W2111475298 cites W1985122070 @default.
• W2111475298 cites W1991123861 @default.
• W2111475298 cites W1999370812 @default.
• W2111475298 cites W2017037826 @default.
• W2111475298 cites W2018434145 @default.
• W2111475298 cites W2019094344 @default.
• W2111475298 cites W2026064166 @default.
• W2111475298 cites W2035835975 @default.
• W2111475298 cites W2041692444 @default.
• W2111475298 cites W2052271137 @default.
• W2111475298 cites W2061075528 @default.
• W2111475298 cites W2067148789 @default.
• W2111475298 cites W2069077125 @default.
• W2111475298 cites W2069677996 @default.
• W2111475298 cites W2078102357 @default.
• W2111475298 cites W2084937532 @default.
• W2111475298 cites W2087200888 @default.
• W2111475298 cites W2088179329 @default.
• W2111475298 cites W2092436786 @default.
• W2111475298 cites W2093842293 @default.
• W2111475298 cites W2095417854 @default.
• W2111475298 cites W2105851009 @default.
• W2111475298 cites W2109686700 @default.
• W2111475298 cites W2113172898 @default.
• W2111475298 cites W2121510306 @default.
• W2111475298 cites W2127882689 @default.
• W2111475298 cites W2131809876 @default.
• W2111475298 cites W2132813387 @default.
• W2111475298 cites W2133484500 @default.
• W2111475298 cites W2138475139 @default.
• W2111475298 cites W2140496302 @default.
• W2111475298 cites W2141893279 @default.
• W2111475298 cites W2143632411 @default.
• W2111475298 cites W2147751731 @default.
• W2111475298 cites W2150718463 @default.
• W2111475298 cites W2158023235 @default.
• W2111475298 cites W2160719232 @default.
• W2111475298 cites W2161533644 @default.
• W2111475298 cites W2167279371 @default.
• W2111475298 cites W2170961439 @default.
• W2111475298 cites W2325730256 @default.
• W2111475298 cites W2463935221 @default.
• W2111475298 doi "https://doi.org/10.1007/s00401-015-1430-3" @default.
• W2111475298 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4541704" @default.
• W2111475298 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25931053" @default.
• W2111475298 hasPublicationYear "2015" @default.
• W2111475298 type Work @default.
• W2111475298 sameAs 2111475298 @default.
• W2111475298 citedByCount "43" @default.
• W2111475298 countsByYear W21114752982016 @default.
• W2111475298 countsByYear W21114752982017 @default.
• W2111475298 countsByYear W21114752982018 @default.
• W2111475298 countsByYear W21114752982019 @default.
• W2111475298 countsByYear W21114752982020 @default.
• W2111475298 countsByYear W21114752982021 @default.
• W2111475298 countsByYear W21114752982022 @default.
• W2111475298 countsByYear W21114752982023 @default.
• W2111475298 crossrefType "journal-article" @default.
• W2111475298 hasAuthorship W2111475298A5004195717 @default.
• W2111475298 hasAuthorship W2111475298A5006397040 @default.
• W2111475298 hasAuthorship W2111475298A5008811325 @default.

• next