Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079162969> ?p ?o ?g. }
- W2079162969 endingPage "237" @default.
- W2079162969 startingPage "222" @default.
- W2079162969 abstract "Mutations in the human L1CAM gene cause neurodevelopmental disorders collectively referred to as L1 syndrome. Here, we investigated cellular pathomechanisms underlying two L1 syndrome mutations, R184Q and W1036L. We demonstrate that these mutations cause partial endoplasmic reticulum (ER) retention of L1, reduce L1 cell surface expression, but do not induce ER stress in neuronal NSC-34 cells. We provide evidence that surface trafficking of mutated L1 is affected by defective sorting to ER exit sites and attenuated ER export. However, in differentiated neuronal cultures and long-term cultured hippocampal slices, the L1-R184Q protein is restricted to cell bodies, whereas L1-W1036L also aberrantly localizes to dendrites. These trafficking defects preclude axonal targeting of L1, thereby affecting L1-mediated axon growth and arborization. Our results indicate that L1 syndrome mutations impair neuronal L1 function at different levels, firstly by attenuating ER export and secondly by interfering with polarized neuronal trafficking." @default.
- W2079162969 created "2016-06-24" @default.
- W2079162969 creator A5004386868 @default.
- W2079162969 creator A5009754125 @default.
- W2079162969 creator A5026520425 @default.
- W2079162969 creator A5031010591 @default.
- W2079162969 creator A5044800358 @default.
- W2079162969 creator A5045958877 @default.
- W2079162969 creator A5058346913 @default.
- W2079162969 creator A5062493807 @default.
- W2079162969 creator A5068900646 @default.
- W2079162969 creator A5082460988 @default.
- W2079162969 date "2010-10-01" @default.
- W2079162969 modified "2023-10-04" @default.
- W2079162969 title "L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms" @default.
- W2079162969 cites W1513872012 @default.
- W2079162969 cites W1535587662 @default.
- W2079162969 cites W1542397258 @default.
- W2079162969 cites W1905134447 @default.
- W2079162969 cites W1915639973 @default.
- W2079162969 cites W1943315667 @default.
- W2079162969 cites W1964544527 @default.
- W2079162969 cites W1969543645 @default.
- W2079162969 cites W1970841610 @default.
- W2079162969 cites W1978641793 @default.
- W2079162969 cites W1979295999 @default.
- W2079162969 cites W1979837223 @default.
- W2079162969 cites W1985234764 @default.
- W2079162969 cites W1990744482 @default.
- W2079162969 cites W1996560351 @default.
- W2079162969 cites W2004741567 @default.
- W2079162969 cites W2004986948 @default.
- W2079162969 cites W2008744347 @default.
- W2079162969 cites W2009916703 @default.
- W2079162969 cites W2010233410 @default.
- W2079162969 cites W2015357935 @default.
- W2079162969 cites W2016676786 @default.
- W2079162969 cites W2025511820 @default.
- W2079162969 cites W2027727753 @default.
- W2079162969 cites W2028292571 @default.
- W2079162969 cites W2029152767 @default.
- W2079162969 cites W2038110344 @default.
- W2079162969 cites W2041194816 @default.
- W2079162969 cites W2042172817 @default.
- W2079162969 cites W2043387126 @default.
- W2079162969 cites W2060906239 @default.
- W2079162969 cites W2068600128 @default.
- W2079162969 cites W2075705981 @default.
- W2079162969 cites W2077247278 @default.
- W2079162969 cites W2081422469 @default.
- W2079162969 cites W2081438650 @default.
- W2079162969 cites W2086113370 @default.
- W2079162969 cites W2089828884 @default.
- W2079162969 cites W2095280415 @default.
- W2079162969 cites W2096689334 @default.
- W2079162969 cites W2098382321 @default.
- W2079162969 cites W2098508624 @default.
- W2079162969 cites W2105510616 @default.
- W2079162969 cites W2109679459 @default.
- W2079162969 cites W2112240787 @default.
- W2079162969 cites W2123591482 @default.
- W2079162969 cites W2124813164 @default.
- W2079162969 cites W2126451050 @default.
- W2079162969 cites W2134245600 @default.
- W2079162969 cites W2136282768 @default.
- W2079162969 cites W2137905390 @default.
- W2079162969 cites W2138419746 @default.
- W2079162969 cites W2140167060 @default.
- W2079162969 cites W2145285997 @default.
- W2079162969 cites W2146724841 @default.
- W2079162969 cites W2149183584 @default.
- W2079162969 cites W2150989661 @default.
- W2079162969 cites W2158061036 @default.
- W2079162969 cites W2158920923 @default.
- W2079162969 cites W2159466552 @default.
- W2079162969 cites W2160042001 @default.
- W2079162969 cites W2161442189 @default.
- W2079162969 cites W2168801997 @default.
- W2079162969 cites W2186139098 @default.
- W2079162969 cites W4297802366 @default.
- W2079162969 cites W4431115 @default.
- W2079162969 cites W81558796 @default.
- W2079162969 doi "https://doi.org/10.1016/j.nbd.2010.05.029" @default.
- W2079162969 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20621658" @default.
- W2079162969 hasPublicationYear "2010" @default.
- W2079162969 type Work @default.
- W2079162969 sameAs 2079162969 @default.
- W2079162969 citedByCount "32" @default.
- W2079162969 countsByYear W20791629692012 @default.
- W2079162969 countsByYear W20791629692013 @default.
- W2079162969 countsByYear W20791629692014 @default.
- W2079162969 countsByYear W20791629692015 @default.
- W2079162969 countsByYear W20791629692016 @default.
- W2079162969 countsByYear W20791629692017 @default.
- W2079162969 countsByYear W20791629692019 @default.
- W2079162969 countsByYear W20791629692020 @default.
- W2079162969 countsByYear W20791629692021 @default.
- W2079162969 countsByYear W20791629692022 @default.