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

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes

21 Dec 2018

Abstract excerpt

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) are related heterotetrameric complexes that associate with the cytosolic face of the trans-Golgi network and recycling endosomes, respectively. At these locations, GARP and EARP function to promote the fusion of endosome-derived transport carriers with their corresponding compartments. GARP and EARP share three subunits,...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Cystic Fibrosis Research Advances
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30624672
DOI: 10.1093/hmg/ddy423

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesPMID 30624672Read ↗

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

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.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 ↗

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.Semantic proximity Read ↗

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

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.Semantic proximity Read ↗

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

Hypomyelination and developmental delay associated with <i>VPS11</i> mutation in Ashkenazi-Jewish patientsSemantic proximity Read ↗

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.Semantic proximity Read ↗

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSemantic proximity Read ↗

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transportSemantic proximity Read ↗

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