Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.E238*
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STUB1

NM_005861.4:p.E238*

Associated Papers

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Mylvaganam S et al.

Current Neuropharmacology, 2021

Spinocerebellar ataxia type 48: last but not least.

De Michele G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto M et al.

European Journal of Neurology, 2020

Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.

Shi CH et al.

Plos Genetics, 2018

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C et al.

Cerebellum (london, England), 2015

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

Casarejos MJ et al.

Plos One, 2014

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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."