Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.G85R
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CYCS

NM_018947.6:p.G85R

Associated Papers

Recruitment of mitochondria into apoptotic signaling correlates with the presence of inclusions formed by amyotrophic lateral sclerosis-associated SOD1 mutations.

Soo KY et al.

Journal of Neurochemistry, 2009

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.

Kawamata H et al.

Human Molecular Genetics, 2008

Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice.

Damiano M et al.

Journal of Neurochemistry, 2006

SOD1 activity and protective factors in familial ALS patients with L84F SOD1 mutation.

Curti D et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2002

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."