Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

PLoS genetics - 1 Dec 2018

Bowie Emily, Norris Ryan, Anderson Kathryn V, Goetz Sarah C

Abstract excerpt

Spinocerebellar ataxia type 11 (SCA11) is a rare, dominantly inherited human ataxia characterized by atrophy of Purkinje neurons in the cerebellum. SCA11 is caused by mutations in the gene encoding the Serine/Threonine kinase Tau tubulin kinase 2 (TTBK2) that result in premature truncations of the protein. We previously showed that TTBK2 is a key regulator of the assembly of primary cilia in vivo. However, the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cilia
Share to Ciliopathies
Share to Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Homozygote

Share to Microscopy, Electron, Transmission

Share to Protein Serine-Threonine Kinases

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 30532139
DOI: 10.1371/journal.pgen.1007844
PMCID: PMC6307817

Genes

TTBK2
SHH
SMO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.PMID 30532139Read ↗

Spinocerebellar ataxia type 11-associated alleles of <i>Ttbk2</i> dominantly interfere with ciliogenesis and cilium stabilitySemantic proximity Read ↗

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

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neuronsSemantic proximity Read ↗

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.Semantic proximity Read ↗

<i>TTBK2</i> mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteinsSemantic proximity Read ↗

Spinocerebellar ataxia type 11 (SCA11): An update.Semantic proximity Read ↗

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.Semantic proximity Read ↗

Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.Semantic proximity Read ↗

Tau tubulin kinase 1 and 2 regulate ciliogenesis and human pluripotent stem cells–derived neural rosettesSemantic proximity Read ↗

Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2Semantic proximity Read ↗

A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11Semantic proximity Read ↗

Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.