A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
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Impairment of mitochondrial calcium handling in a mtSOD1 cell culture model of motoneuron diseaseA mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-IcFrom animal models to human disease: a genetic approach for personalized medicine in ALSStructural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93AAge of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.Local unfolding in a destabilized, pathogenic variant of superoxide dismutase 1 observed with H/D exchange and mass spectrometry.Regulation of CuZnSOD and its redox signaling potential: implications for amyotrophic lateral sclerosisProtein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.Dimerization, oligomerization, and aggregation of human amyotrophic lateral sclerosis copper/zinc superoxide dismutase 1 protein mutant forms in live cellsImmature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.Mutant SOD1 knockdown in all cell types ameliorates disease in G85R SOD1 mice with a limited additional effect over knockdown restricted to motor neuronsSmall molecules enhance CRISPR genome editing in pluripotent stem cells.Familial amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis: human challenge for neuroscienceThe role of environmental exposures in neurodegeneration and neurodegenerative diseases.Alterations in G(1) to S phase cell-cycle regulators during amyotrophic lateral sclerosis.Oxidative stress mediates impairment of muscle function in transgenic mice with elevated level of wild-type Cu/Zn superoxide dismutaseA drosophila model for amyotrophic lateral sclerosis reveals motor neuron damage by human SOD1.Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.Is SOD1 loss of function involved in amyotrophic lateral sclerosis?Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide.Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.What has fluorescent sensing told us about copper and brain malfunction?CuZn superoxide dismutase (SOD-1):tetanus toxin fragment C hybrid protein for targeted delivery of SOD-1 to neuronal cells.New links between SOD1 and metabolic dysfunction from a yeast model of amyotrophic lateral sclerosis.Defining SOD1 ALS natural history to guide therapeutic clinical trial design.Copper/zinc superoxide dismutase expression in the human central nervous system. Correlation with selective neuronal vulnerability.Cellular toxicity of mutant SOD1 protein is linked to an easily soluble, non-aggregated form in vitro.Influence of mismatched and bulged nucleotides on SNP-preferential RNase H cleavage of RNA-antisense gapmer heteroduplexes.The involvement of GSH in the activation of human Sod1 linked to FALS in chronologically aged yeast cells.A chemical chaperone-based drug candidate is effective in a mouse model of amyotrophic lateral sclerosis (ALS).A familial amyotrophic lateral sclerosis-associated A4V Cu, Zn-superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value.?True? sporadic ALS associated with a novel SOD-1 mutationFounder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients
P2860
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P2860
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@ast
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@en
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@nl
type
label
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@ast
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@en
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@nl
prefLabel
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@ast
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@en
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@nl
P2093
P3181
P356
P1476
A frequent ala 4 to val supero ...... amyotrophic lateral sclerosis
@en
P2093
A C Bowling
D McKenna-Yasek
D Patterson
R J Ferrante
P3181
P356
10.1093/HMG/3.6.981
P407
P577
1994-06-01T00:00:00Z