Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.K144*
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STUB1

NM_005861.4:p.K144*

Associated Papers

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Ravel JM et al.

Journal of Neurology, 2021

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

Mylvaganam S et al.

Current Neuropharmacology, 2021

Hsc70/Stub1 promotes the removal of individual oxidatively stressed peroxisomes.

Chen BH et al.

Nature Communications, 2020

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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Heimdal K et al.

Orphanet Journal of Rare Diseases, 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."