Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.Q31Q
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HSPB1

NM_001540.5:p.Q31Q

Associated Papers

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Defects in Axonal Transport in Inherited Neuropathies.

Beijer D et al.

Journal of Neuromuscular Diseases, 2019

HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.

Heilman PL et al.

Experimental Neurology, 2017

Transduced HSP27 protein protects neuronal cell death by enhancing FALS-associated SOD1 mutant activity.

An JJ et al.

Bmb Reports, 2009

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

Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis.

Bruening W et al.

Journal of Neurochemistry, 1999

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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."