Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.V31V
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UCHL1

NM_004181.5:p.V31V

Associated Papers

Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.

Mi Z et al.

Ageing Research Reviews, 2023

Absence of UCHL 1 function leads to selective motor neuropathy.

Genç B et al.

Annals of Clinical and Translational Neurology, 2016

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function.

Jara JH et al.

Cerebral Cortex (new York, N.y. : 1991), 2015

eGFP expression under UCHL1 promoter genetically labels corticospinal motor neurons and a subpopulation of degeneration-resistant spinal motor neurons in an ALS mouse model.

Yasvoina MV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Effect of ubiquitin expression on neuropathogenesis in a mouse model of familial amyotrophic lateral sclerosis.

Gilchrist CA et al.

Neuropathology and Applied Neurobiology, 2005

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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."