MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Abstract Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset neurodegenerative syndrome caused by loss-...

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Váldodahkkit: Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Materiálatiipa: Artigo
Giella:eaŋgalasgiella
Almmustuhtton: 2020
Liŋkkat:https://doi.org/10.1038/s41467-020-19919-y
https://www.nature.com/articles/s41467-020-19919-y.pdf
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https://doi.org/10.1038/s41467-020-19919-y
https://www.nature.com/articles/s41467-020-19919-y.pdf

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