Matches in SemOpenAlex for { <https://semopenalex.org/work/W1967057584> ?p ?o ?g. }
- W1967057584 endingPage "1893" @default.
- W1967057584 startingPage "1883" @default.
- W1967057584 abstract "Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability. We used the legs at odd angles (Loa) (DYNC1H1(F580Y)) mouse model for spinal muscular atrophy with lower extremity predominance and a combination of live-cell imaging and biochemical assays to show that the velocity of dynein-dependent microtubule minus-end (towards the nucleus) movement of EGF and BDNF induced signalling endosomes is significantly reduced in Loa embryonic fibroblasts and motor neurons. At the same time, the number of the plus-end (towards the cell periphery) moving endosomes is increased in the mutant cells. As a result, the extracellular signal-regulated kinases (ERK) 1/2 activation and c-Fos expression are altered in both mutant cell types, but the motor neurons exhibit a strikingly abnormal ERK1/2 and c-Fos response to serum-starvation induced stress. These data highlight the cell-type specific ERK1/2 response as a possible contributory factor in the neuropathological nature of Dync1h1 mutations, despite generic aberrant kinetics in both cell types, providing an explanation for how mutations in the ubiquitously expressed DYNC1H1 cause neuron-specific disease." @default.
- W1967057584 created "2016-06-24" @default.
- W1967057584 creator A5005029993 @default.
- W1967057584 creator A5008319022 @default.
- W1967057584 creator A5013909562 @default.
- W1967057584 creator A5048537931 @default.
- W1967057584 creator A5061508902 @default.
- W1967057584 creator A5073263620 @default.
- W1967057584 creator A5076486223 @default.
- W1967057584 creator A5081659696 @default.
- W1967057584 date "2014-04-22" @default.
- W1967057584 modified "2023-10-15" @default.
- W1967057584 title "DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy" @default.
- W1967057584 cites W120253205 @default.
- W1967057584 cites W1572746674 @default.
- W1967057584 cites W1700333260 @default.
- W1967057584 cites W1966798058 @default.
- W1967057584 cites W1973787420 @default.
- W1967057584 cites W1981434673 @default.
- W1967057584 cites W1983833034 @default.
- W1967057584 cites W1984979116 @default.
- W1967057584 cites W1985133272 @default.
- W1967057584 cites W1989875198 @default.
- W1967057584 cites W1993386867 @default.
- W1967057584 cites W2001200852 @default.
- W1967057584 cites W2008499498 @default.
- W1967057584 cites W2011667510 @default.
- W1967057584 cites W2013922032 @default.
- W1967057584 cites W2019873576 @default.
- W1967057584 cites W2025490762 @default.
- W1967057584 cites W2028489659 @default.
- W1967057584 cites W2036521731 @default.
- W1967057584 cites W2041938779 @default.
- W1967057584 cites W2050873080 @default.
- W1967057584 cites W2053716435 @default.
- W1967057584 cites W2068761333 @default.
- W1967057584 cites W2069722515 @default.
- W1967057584 cites W2073752458 @default.
- W1967057584 cites W2075357057 @default.
- W1967057584 cites W2076788657 @default.
- W1967057584 cites W2081163705 @default.
- W1967057584 cites W2084220395 @default.
- W1967057584 cites W2108117531 @default.
- W1967057584 cites W2110029962 @default.
- W1967057584 cites W2110641277 @default.
- W1967057584 cites W2119184935 @default.
- W1967057584 cites W2132498101 @default.
- W1967057584 cites W2132550454 @default.
- W1967057584 cites W2135012523 @default.
- W1967057584 cites W2135250775 @default.
- W1967057584 cites W2143891754 @default.
- W1967057584 cites W2144117641 @default.
- W1967057584 cites W2148351021 @default.
- W1967057584 cites W2148822492 @default.
- W1967057584 cites W2150762830 @default.
- W1967057584 cites W2153138268 @default.
- W1967057584 doi "https://doi.org/10.1093/brain/awu097" @default.
- W1967057584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24755273" @default.
- W1967057584 hasPublicationYear "2014" @default.
- W1967057584 type Work @default.
- W1967057584 sameAs 1967057584 @default.
- W1967057584 citedByCount "21" @default.
- W1967057584 countsByYear W19670575842014 @default.
- W1967057584 countsByYear W19670575842015 @default.
- W1967057584 countsByYear W19670575842016 @default.
- W1967057584 countsByYear W19670575842017 @default.
- W1967057584 countsByYear W19670575842018 @default.
- W1967057584 countsByYear W19670575842020 @default.
- W1967057584 countsByYear W19670575842021 @default.
- W1967057584 countsByYear W19670575842022 @default.
- W1967057584 countsByYear W19670575842023 @default.
- W1967057584 crossrefType "journal-article" @default.
- W1967057584 hasAuthorship W1967057584A5005029993 @default.
- W1967057584 hasAuthorship W1967057584A5008319022 @default.
- W1967057584 hasAuthorship W1967057584A5013909562 @default.
- W1967057584 hasAuthorship W1967057584A5048537931 @default.
- W1967057584 hasAuthorship W1967057584A5061508902 @default.
- W1967057584 hasAuthorship W1967057584A5073263620 @default.
- W1967057584 hasAuthorship W1967057584A5076486223 @default.
- W1967057584 hasAuthorship W1967057584A5081659696 @default.
- W1967057584 hasBestOaLocation W19670575841 @default.
- W1967057584 hasConcept C102747710 @default.
- W1967057584 hasConcept C104317684 @default.
- W1967057584 hasConcept C106987784 @default.
- W1967057584 hasConcept C143065580 @default.
- W1967057584 hasConcept C169760540 @default.
- W1967057584 hasConcept C20418707 @default.
- W1967057584 hasConcept C2776752467 @default.
- W1967057584 hasConcept C2778558090 @default.
- W1967057584 hasConcept C2780775167 @default.
- W1967057584 hasConcept C2781172350 @default.
- W1967057584 hasConcept C501734568 @default.
- W1967057584 hasConcept C54355233 @default.
- W1967057584 hasConcept C57074206 @default.
- W1967057584 hasConcept C62478195 @default.
- W1967057584 hasConcept C79879829 @default.
- W1967057584 hasConcept C86803240 @default.
- W1967057584 hasConcept C95444343 @default.