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Optimizing Gene Expression Analysis in Archival Brain Tissue 总被引:4,自引:0,他引:4
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Yeast hexokinase. 3. Sulfhydryl groups and protein dissociation 总被引:5,自引:0,他引:5
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M Derechin 《Biochemistry》1971,10(26):4981-4986
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Johnson JO Mandrioli J Benatar M Abramzon Y Van Deerlin VM Trojanowski JQ Gibbs JR Brunetti M Gronka S Wuu J Ding J McCluskey L Martinez-Lage M Falcone D Hernandez DG Arepalli S Chong S Schymick JC Rothstein J Landi F Wang YD Calvo A Mora G Sabatelli M Monsurrò MR Battistini S Salvi F Spataro R Sola P Borghero G;ITALSGEN Consortium Galassi G Scholz SW Taylor JP Restagno G Chiò A Traynor BJ 《Neuron》2010,68(5):857-864
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in?families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ~1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration. 相似文献
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M. Derechin 《The Biochemical journal》1962,82(1):42-47