Spinocerebellar Ataxia Type 11 Latest Advances

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Journal: Scientific reports

Published: July 04, 2025

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

Journal: Cerebellum (London, England)

Published: March 02, 2023

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

Journal: bioRxiv : the preprint server for biology

Published: February 13, 2023

Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.

Journal: Acta neuropathologica communications

Published: September 10, 2020

Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Journal: Parkinsonism & related disorders

Published: April 11, 2020

Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.

Journal: Cellular and molecular neurobiology

Published: January 27, 2020

The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor.

Journal: Acta crystallographica. Section F, Structural biology communications

Published: October 31, 2019

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.

Journal: eLife

Published: August 17, 2019

Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases.

Journal: European journal of medicinal chemistry

Published: September 07, 2018

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Journal: PLoS genetics

Published: May 11, 2018

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Journal: Cerebellum (London, England)

Published: May 12, 2016

Dopa-responsive dystonia--clinical and genetic heterogeneity.

Journal: Nature reviews. Neurology

Published: June 24, 2015

Spinocerebellar Ataxia Type 11 Latest Advances

Find the Latest Research About Spinocerebellar Ataxia Type 11

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

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

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

Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.

Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.

Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.

Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.

The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor.

The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor.

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.

Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases.

Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases.

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Dopa-responsive dystonia--clinical and genetic heterogeneity.

Dopa-responsive dystonia--clinical and genetic heterogeneity.