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

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

American journal of human genetics - 7 Jul 2016

Lenk Guy M, Szymanska Krystyna, Debska-Vielhaber Grazyna, Rydzanicz Malgorzata, Walczak Anna, Bekiesinska-Figatowska Monika, Vielhaber Stefan, Hallmann Kerstin, Stawinski Piotr, Buehring Sonja, Hsu David A, Kunz Wolfram S, Meisler Miriam H, Ploski Rafal

Abstract excerpt

In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Intracellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Mutation, Missense

Share to Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 27292112
DOI: 10.1016/j.ajhg.2016.05.008
PMCID: PMC5005439

Genes

VAC14
FIG4
PIKFYVE

Variants

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

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.PMID 27292112Read ↗

Yunis-Varón syndrome caused by biallelic VAC14 mutations.Semantic proximity Read ↗

Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.Semantic proximity Read ↗

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.Semantic proximity Read ↗

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.Semantic proximity Read ↗

Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.Semantic proximity Read ↗

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in<i>VCP</i>Semantic proximity Read ↗

Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement.Semantic proximity Read ↗

Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.Semantic proximity Read ↗

Novel FIG4 mutations in Yunis-Varon syndrome.Semantic proximity Read ↗

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.Semantic proximity Read ↗

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.Semantic proximity Read ↗

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.Semantic proximity Read ↗

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