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

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.

Cerebellum (London, England) - 18 Mar 2025

Raj Ghosh Gayatri, Kao Tiffany H, Steigerwald Connolly G, Chan Nora L, Newton Alexandra C, Abreu Nicolas J

Abstract excerpt

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by adult-onset cerebellar ataxia, and occasionally pyramidal signs, cognitive changes, sensory changes, myoclonus, and tremor. SCA14 results from heterozygous gain-of-function pathogenic variants in PRKCG, which encodes protein kinase Cγ. The aim was to elucidate the molecular mechanism of disease in a...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Pedigree
Share to Protein Domains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Kinase C

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 40100287
DOI: 10.1007/s12311-025-01818-x
PMCID: PMC11991623

Genes

PRKCG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.PMID 40100287Read ↗

Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.Semantic proximity Read ↗

Protein Kinase Cγ Mutations Drive Spinocerebellar Ataxia Type 14 by Impairing AutoinhibitionSemantic proximity Read ↗

Single-residue mutation in protein kinase C toggles between cancer and neurodegeneration.Semantic proximity Read ↗

Sex specific disruptions in Protein Kinase Cγ signaling in a mouse model of Spinocerebellar Ataxia Type 14Semantic proximity Read ↗

Sex-specific disruptions in PKCγ signaling in a mouse model of spinocerebellar ataxia type 14.Semantic proximity Read ↗

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.Semantic proximity Read ↗

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.Semantic proximity Read ↗

Single-residue mutation in protein kinase C toggles between cancer and neurodegenerationSemantic proximity Read ↗

Spinocerebellar ataxia type 14.Semantic proximity Read ↗

Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.Semantic proximity Read ↗

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.Semantic proximity Read ↗

Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.Semantic proximity Read ↗

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