Article

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

2021-08-10

Abstract excerpt

<title>Abstract</title> <p>Vesicle biogenesis, trafficking and signaling via the ER-Golgi network support essential processes during development and their disruption can lead to neurodevelopmental disorders and neurodegeneration. We report that de novo missense variants in ARF3, encoding a small GTPase regulating Golgi structure and function, cause a neurodevelopmental disease showing microcephaly and progressive...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 47a3996c-dcbe-5c5d-9584-3263bc462232
DOI: 10.21203/rs.3.rs-678090/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafishDOI 10.21203/rs.3.rs-678090/v1Read

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishSemantic proximity Read

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.Semantic proximity Read

Neurodevelopmental disorder associated with gene ARF3: A case report.Semantic proximity Read

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

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

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.Semantic proximity Read

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.Semantic proximity Read

Rab and Arf proteins in genetic diseases.Semantic proximity Read

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSemantic proximity Read

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.Semantic proximity Read

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.Semantic proximity Read