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Article

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

Cellular and molecular life sciences : CMLS - 8 Aug 2024

Anitei Mihaela, Bruno Francesca, Valkova Christina, Dau Therese, Cirri Emilio, Mestres Iván, Calegari Federico, Kaether Christoph

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...

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Identifiers

PMID: 39115595
DOI: 10.1007/s00018-024-05386-x
PMCID: PMC11335259

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