IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.
Anterograde transport
Axon pathfinding
COPII
Cortical development
Diabetes
Endoplasmic reticulum
Microcephaly
Journal
Cellular and molecular life sciences : CMLS
ISSN: 1420-9071
Titre abrégé: Cell Mol Life Sci
Pays: Switzerland
ID NLM: 9705402
Informations de publication
Date de publication:
08 Aug 2024
08 Aug 2024
Historique:
received:
05
02
2024
accepted:
27
07
2024
revised:
13
07
2024
medline:
8
8
2024
pubmed:
8
8
2024
entrez:
8
8
2024
Statut:
epublish
Résumé
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-surface proteomics to demonstrate that the absence of IER3IP1 results in the mistrafficking of proteins crucial for neuronal development and survival, including FGFR3, UNC5B and SEMA4D. This phenomenon correlates with the distension of ER membranes and increased lysosomal activity. Notably, the trafficking of cargo receptor ERGIC53 and KDEL-receptor 2 are compromised, with the latter leading to the anomalous secretion of ER-localized chaperones. Our investigation extended to in-utero knock-down of Ier3ip1 in mouse embryo brains, revealing a morphological phenotype in newborn neurons. In summary, our findings provide insights into how the loss or mutation of a 10 kDa small ER-membrane protein can cause a fatal syndrome.
Identifiants
pubmed: 39115595
doi: 10.1007/s00018-024-05386-x
pii: 10.1007/s00018-024-05386-x
doi:
Substances chimiques
Membrane Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
334Subventions
Organisme : Deutsche Forschungsgemeinschaft
ID : KA1751/8-1
Informations de copyright
© 2024. The Author(s).
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