Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.T3A
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HTT

NM_001388492.1:p.T3A

Associated Papers

The N17 domain of huntingtin as a multifaceted player in Huntington's disease.

Cho H

Frontiers in Molecular Biosciences, 2024

IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway.

Cariulo C et al.

Life Science Alliance, 2023

TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.

Hegde RN et al.

The Embo Journal, 2020

Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation.

Cariulo C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Essential sequence of the N-terminal cytoplasmic localization-related domain of huntingtin and its effect on huntingtin aggregates.

Yan Y et al.

Science China. Life Sciences, 2011

Phosphorylation of threonine 3: implications for Huntingtin aggregation and neurotoxicity.

Aiken CT et al.

The Journal of Biological Chemistry, 2009

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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."