Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.V31V
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CHAT

NM_020549.5:p.V31V

Associated Papers

The UPR-PERK pathway is not a promising therapeutic target for mutant SOD1-induced ALS.

Dzhashiashvili Y et al.

Neurobiology of Disease, 2019

Preserving neuromuscular synapses in ALS by stimulating MuSK with a therapeutic agonist antibody.

Cantor S et al.

Elife, 2018

Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways.

Ayers JI et al.

Acta Neuropathologica, 2016

Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice.

Gertz B et al.

Journal of Neuropathology and Experimental Neurology, 2012

Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice.

Jaarsma D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Early signs of motoneuron vulnerability in a disease model system: Characterization of transverse slice cultures of spinal cord isolated from embryonic ALS mice.

Avossa D et al.

Neuroscience, 2006

Altered long-term corticostriatal synaptic plasticity in transgenic mice overexpressing human CU/ZN superoxide dismutase (GLY(93)-->ALA) mutation.

Geracitano R et al.

Neuroscience, 2003

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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."