SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental disorder with progressive congenital microcephaly and early death. SMPD4 encodes a sphingomyelinase that hydrolyses sphingomyelin into ceramide at neutral pH and can thereby affect membrane lipid homeostasis. SMP...

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Detalles Bibliográficos
Autores principales: Smits, Daphne J, Schot, Rachel, Krusy, Nathalie, Wiegmann, Katja, Utermöhlen, Olaf, Mulder, Monique T, den Hoedt, Sandra, Yoon, Grace, Deshwar, Ashish R, Kresge, Christina, Pletcher, Beth, van Mook, Maura, Ferreira, Marta Serio, Poot, Raymond A, Slotman, Johan A, Kremers, Gert-Jan, Ahmad, Abeer, Albash, Buthaina, Bastaki, Laila, Marafi, Dana, Dekker, Jordy, van Ham, Tjakko J, Nguyen, Laurent, Mancini, Grazia M S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393401/
https://www.ncbi.nlm.nih.gov/pubmed/36732302
http://dx.doi.org/10.1093/brain/awad033

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