Detail TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis   Oleh:  Sreedharan, Jemeen ; Blair, Ian P. ; Tripathi, Vineeta B. ; Xun, Hu Jenis: Article from Bulletin/Magazine Dalam koleksi: SCIENCE (keterangan: ada di Proquest) vol. 319 no. 5870 (Mar. 2008), page 1668-1671. Topik: TDP-43 Mutations; Familial and Sporadic Amyotrophic Lateral Sclerosis Ketersediaan Perpustakaan FK Nomor Panggil: S01.K.2008.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada     Lihat Detail Induk Isi artikel 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 a pathophysiological link between TDP-43 and ALS. Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Kembali

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