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

Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.

Brain : a journal of neurology - 3 Jun 2024

Ousingsawat Jiraporn, Talbi Khaoula, Gómez-Martín Hilario, Koy Anne, Fernández-Jaén Alberto, Tekgül Hasan, Serdaroğlu Esra, Schreiber Rainer, Ortigoza-Escobar Juan Dario, Kunzelmann Karl

Abstract excerpt

Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were identified as the cause of craniocervical dystonia, but the underlying pathogenic mechanisms remain obscure. It was suggested that ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were...

Read the complete abstract on PubMed

Topics

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

Share to Anoctamins
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Dystonia

Share to HEK293 Cells

Share to Pedigree

Share to Phenotype

Share to Phospholipid Transfer Proteins

Source

Identifiers

PMID: 38079528
DOI: 10.1093/brain/awad412

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.PMID 38079528Read ↗

The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.Semantic proximity Read ↗

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.Semantic proximity Read ↗

Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort.Semantic proximity Read ↗

The expanding clinical and genetic spectrum of ANO3 dystonia.Semantic proximity Read ↗

The phenotypic spectrum of DYT24 due to ANO3 mutations.Semantic proximity Read ↗

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic EvolutionSemantic proximity Read ↗

Intrafamilial phenotypic variability in DYT-ANO3: Video documentation of 16 affected members from an Indian family.Semantic proximity Read ↗

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectSemantic proximity Read ↗

Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya diseaseSemantic proximity Read ↗

A novel ANO3 variant in two siblings with different phenotypes.Semantic proximity Read ↗

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.Semantic proximity Read ↗

CaV3.3 Channelopathies.Semantic proximity Read ↗

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