Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912011977> ?p ?o ?g. }
- W2912011977 abstract "Abstract Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. All the patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. Patient-derived fibroblasts exhibit changes in nuclear envelope morphology and large nuclear-spanning channels containing trapped cytoplasmic organelles. Decreased and inefficient cellular motility is also observed in these fibroblasts. Our study describes the complete absence of both major human LAP1 isoforms, underscoring their crucial role in early development and organogenesis. LAP1-associated defects may thus comprise a broad clinical spectrum depending on the availability of both isoforms in the nuclear envelope throughout life." @default.
- W2912011977 created "2019-02-21" @default.
- W2912011977 creator A5002861446 @default.
- W2912011977 creator A5009625944 @default.
- W2912011977 creator A5033572261 @default.
- W2912011977 creator A5035739161 @default.
- W2912011977 creator A5038870699 @default.
- W2912011977 creator A5042630963 @default.
- W2912011977 creator A5047124666 @default.
- W2912011977 creator A5067219814 @default.
- W2912011977 creator A5069499376 @default.
- W2912011977 creator A5073145057 @default.
- W2912011977 creator A5090333170 @default.
- W2912011977 date "2019-02-05" @default.
- W2912011977 modified "2023-10-06" @default.
- W2912011977 title "Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy" @default.
- W2912011977 cites W1119021472 @default.
- W2912011977 cites W1971712282 @default.
- W2912011977 cites W1982049627 @default.
- W2912011977 cites W1986033978 @default.
- W2912011977 cites W1988976106 @default.
- W2912011977 cites W1992502425 @default.
- W2912011977 cites W1993222258 @default.
- W2912011977 cites W1997720284 @default.
- W2912011977 cites W2003111937 @default.
- W2912011977 cites W2008052894 @default.
- W2912011977 cites W2015080054 @default.
- W2912011977 cites W2018766190 @default.
- W2912011977 cites W2032985722 @default.
- W2912011977 cites W2052378829 @default.
- W2912011977 cites W2053206914 @default.
- W2912011977 cites W2057388777 @default.
- W2912011977 cites W2063220206 @default.
- W2912011977 cites W2063456960 @default.
- W2912011977 cites W2067415425 @default.
- W2912011977 cites W2069456643 @default.
- W2912011977 cites W2077254683 @default.
- W2912011977 cites W2080125465 @default.
- W2912011977 cites W2082182268 @default.
- W2912011977 cites W2083333448 @default.
- W2912011977 cites W2083441358 @default.
- W2912011977 cites W2093966606 @default.
- W2912011977 cites W2094806530 @default.
- W2912011977 cites W2103803573 @default.
- W2912011977 cites W2111493068 @default.
- W2912011977 cites W2122867798 @default.
- W2912011977 cites W2127394968 @default.
- W2912011977 cites W2136835005 @default.
- W2912011977 cites W2136942244 @default.
- W2912011977 cites W2145013849 @default.
- W2912011977 cites W2146525926 @default.
- W2912011977 cites W2149281893 @default.
- W2912011977 cites W2152963843 @default.
- W2912011977 cites W2162051595 @default.
- W2912011977 cites W2162219284 @default.
- W2912011977 cites W2166820447 @default.
- W2912011977 cites W2295039757 @default.
- W2912011977 cites W2298507874 @default.
- W2912011977 cites W2404651638 @default.
- W2912011977 cites W2412511324 @default.
- W2912011977 cites W2581101120 @default.
- W2912011977 cites W2586565413 @default.
- W2912011977 cites W2594608642 @default.
- W2912011977 cites W2738767990 @default.
- W2912011977 cites W4211058615 @default.
- W2912011977 cites W4234462880 @default.
- W2912011977 doi "https://doi.org/10.1038/s41467-019-08493-7" @default.
- W2912011977 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6363790" @default.
- W2912011977 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30723199" @default.
- W2912011977 hasPublicationYear "2019" @default.
- W2912011977 type Work @default.
- W2912011977 sameAs 2912011977 @default.
- W2912011977 citedByCount "38" @default.
- W2912011977 countsByYear W29120119772019 @default.
- W2912011977 countsByYear W29120119772020 @default.
- W2912011977 countsByYear W29120119772021 @default.
- W2912011977 countsByYear W29120119772022 @default.
- W2912011977 countsByYear W29120119772023 @default.
- W2912011977 crossrefType "journal-article" @default.
- W2912011977 hasAuthorship W2912011977A5002861446 @default.
- W2912011977 hasAuthorship W2912011977A5009625944 @default.
- W2912011977 hasAuthorship W2912011977A5033572261 @default.
- W2912011977 hasAuthorship W2912011977A5035739161 @default.
- W2912011977 hasAuthorship W2912011977A5038870699 @default.
- W2912011977 hasAuthorship W2912011977A5042630963 @default.
- W2912011977 hasAuthorship W2912011977A5047124666 @default.
- W2912011977 hasAuthorship W2912011977A5067219814 @default.
- W2912011977 hasAuthorship W2912011977A5069499376 @default.
- W2912011977 hasAuthorship W2912011977A5073145057 @default.
- W2912011977 hasAuthorship W2912011977A5090333170 @default.
- W2912011977 hasBestOaLocation W29120119771 @default.
- W2912011977 hasConcept C104317684 @default.
- W2912011977 hasConcept C127716648 @default.
- W2912011977 hasConcept C169760540 @default.
- W2912011977 hasConcept C179093185 @default.
- W2912011977 hasConcept C2778559928 @default.
- W2912011977 hasConcept C29512474 @default.
- W2912011977 hasConcept C501734568 @default.
- W2912011977 hasConcept C53345823 @default.
- W2912011977 hasConcept C54355233 @default.