Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.D163A
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TTBK2

NM_173500.4:p.D163A

Associated Papers

Regulation of primary cilia disassembly through HUWE1-mediated TTBK2 degradation plays a crucial role in cerebellar development and medulloblastoma growth.

Lin IH et al.

Cell Death and Differentiation, 2024

38879724 (PubMed )
Supplement: 41418_2024_1325_MOESM1_ESM.docx

TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins.

Muñoz-Estrada J et al.

Biorxiv : the Preprint Server for Biology, 2023

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.

Rosa E Silva I et al.

Structure (london, England : 1993), 2022

A molecular journey to check the conformational dynamics of tau tubulin kinase 2 mutations associated with Alzheimer's disease.

Ahamad S et al.

Rsc Advances, 2021

Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.

Bernatik O et al.

Molecular Biology of the Cell, 2020

Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.

Nieding K et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2016

Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1.

Zhang N et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.

Čajánek L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2.

Almilaji A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2013

The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.

Goetz SC et al.

Cell, 2012

TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.

Bouskila M et al.

The Biochemical Journal, 2011

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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."