VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Sreedharan, Jemeen ...
    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43)inclusions. The function of TDP-43 in the nervous ... system is uncertain,and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests apathophysiological link between TDP-43 and ALS.
    Vir: Science. - ISSN 0036-8075 (Letn. 319, št. 5870, 2008, str. 1668-1672)
    Vrsta gradiva - članek, sestavni del
    Leto - 2008
    Jezik - angleški
    COBISS.SI-ID - 24798681

vir: Science. - ISSN 0036-8075 (Letn. 319, št. 5870, 2008, str. 1668-1672)
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