De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

doi:10.1016/j.ajhg.2020.10.012

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

Topics Community

Back to search

Article

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

American journal of human genetics - 3 Dec 2020

Rodger Catherine, Flex Elisabetta, Allison Rachel J, Sanchis-Juan Alba, Hasenahuer Marcia A, Cecchetti Serena, French Courtney E, Edgar James R, Carpentieri Giovanna, Ciolfi Andrea, Pantaleoni Francesca, Bruselles Alessandro, Onesimo Roberta, Zampino Giuseppe, Marcon Francesca, Siniscalchi Ester, Lees Melissa, Krishnakumar Deepa, McCann Emma, Yosifova Dragana, Jarvis Joanna, Kruer Michael C, Marks Warren, Campbell Jonathan, Allen Louise E, Gustincich Stefano, Raymond F Lucy, Tartaglia Marco, Reid Evan

Abstract excerpt

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT function. Probands had structural brain abnormalities, severe neurodevelopmental delay, cataracts, growth...

Topics

ATPases Associated with Diverse Cellular Activities
Alleles
Animals
Brain
Cell Cycle
Centrosome
Endosomal Sorting Complexes Required for Transport

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Endosomes

Fibroblasts

Genomics

HEK293 Cells

HeLa Cells

Humans

Mice

Mutation, Missense

Neurodevelopmental Disorders

Neurons

Protein Domains

Source

Open in PubMed Open full text

Identifiers

PMID: 33186545
DOI: 10.1016/j.ajhg.2020.10.012
PMCID: PMC7820634

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.PMID 33186545Read ↗

The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscissionSemantic proximity Read ↗

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.Semantic proximity Read ↗

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.Semantic proximity Read ↗

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP ComplexesSemantic proximity Read ↗

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesSemantic proximity Read ↗

Cargos and genes: insights into vesicular transport from inherited human disease.Semantic proximity Read ↗

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.Semantic proximity Read ↗

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular ConsequencesSemantic proximity Read ↗

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.Semantic proximity Read ↗

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.Semantic proximity Read ↗

Differential role for VPS4 isoforms in cytokinetic abscission confers a regulatory function for monomeric VPS4A and VTA1 in mammalian cellsSemantic proximity Read ↗

CPAP/CENPJ is essential for the stability and function of ESCRT-pathway associated AAA+ ATPase VPS4BSemantic proximity Read ↗

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