منابع مشابه
Toxicity of ALS-linked SOD1 mutants.
Estévez et al. (1) focused on a potential mechanism through which dominantly inherited mutation in superoxide dismutase 1 (SOD1), an abundant, ubiquitously expressed antioxidant protein, triggers the selective death of motor neurons in amyotrophic lateral sclerosis (ALS). Each subunit of SOD1 binds one zinc and one copper atom. Dismutation of the superoxide radical to H2O2 or O2 requires enzyme...
متن کاملSUMO3 Modification Accelerates the Aggregation of ALS-Linked SOD1 Mutants
Mutations in superoxide dismutase 1 (SOD1) are a major cause of familial amyotrophic lateral sclerosis (ALS), whereby the mutant proteins misfold and aggregate to form intracellular inclusions. We report that both small ubiquitin-like modifier (SUMO) 1 and SUMO2/3 modify ALS-linked SOD1 mutant proteins at lysine 75 in a motoneuronal cell line, the cell type affected in ALS. In these cells, SUMO...
متن کاملThe minor spliceosome could be the major key for FUS/TLS mutants in ALS.
Despite its name, minor spliceosome alterations are often involved in human disease origin. Work by Reber et al (2016) in this issue of The EMBO Journal now demonstrates a connection between minor spliceosome components and FUS/TLS, one of the major proteins aggregating in the brain of patients affected by amyotrophic lateral sclerosis (ALS). This finding has important implications as it extend...
متن کاملApc
How did it get its name? APC is short for adenomatous polyposis coli. The APC gene is mutated in familial adenomatous polyposis, a hereditary form of colon cancer. Carriers of APC mutations develop thousands of colon tumours, some of which inevitably progress to malignancy. Inactivating mutations in APC are also found in the large majority of sporadic colon cancers. APC is therefore an importan...
متن کاملDisruption of early proximodistal patterning and AVE formation in Apc mutants.
In the postimplantation mouse embryo, axial patterning begins with the restriction of expression of a set of genes to the distal visceral endoderm (DVE). This proximodistal (PD) axis is subsequently transformed into an anteroposterior axis as the VE migrates anteriorly to form the anterior visceral endoderm (AVE). Both Nodal and Wnt signaling pathways are involved in these events. We show here ...
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ژورنال
عنوان ژورنال: Science-Business eXchange
سال: 2009
ISSN: 1945-3477
DOI: 10.1038/scibx.2009.1650