Article

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

2024-01-17

Abstract excerpt

Mutations in the IER3IP1 (Immediate Early Response-3 Interacting Protein 1) gene can give rise to MEDS1 (Microcephaly with Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome-1), a severe condition leading to early childhood mortality. The small endoplasmic reticulum (ER)-membrane protein IER3IP1 plays a non-essential role in ER-Golgi transport. Here, we employed secretome and cell-surfac...

Topics

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

Identifiers and source

Literature Corpus work: ebb2e7ed-61d5-5126-b221-d3d5f1065968
DOI: 10.1101/2024.01.17.576044

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transportDOI 10.1101/2024.01.17.576044Read

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

IER3IP1 Mutations Cause Neonatal Diabetes Due to Impaired Proinsulin TraffickingSemantic proximity Read

The microcephaly-associated protein YIPF5 differentially regulates ER-exportSemantic proximity Read

IER3IP1 is critical for maintaining glucose homeostasis through regulating the endoplasmic reticulum function and survival of β cellsSemantic proximity Read

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.Semantic proximity Read

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

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.Semantic proximity Read

Endoplasmic reticulum and Golgi stress in microcephalySemantic proximity Read

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

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafishSemantic proximity Read

Lysosome-Dependent Sphingolipid Regulation as a potential therapeutic Target for Cohen SyndromeSemantic proximity Read

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