Article
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Nature communications - 30 Nov 2020
Ucuncu Ekin, Rajamani Karthyayani, Wilson Miranda S C, Medina-Cano Daniel, Altin Nami, David Pierre, Barcia Giulia, Lefort Nathalie, Banal Céline, Vasilache-Dangles Marie-Thérèse, Pitelet Gaële, Lorino Elsa, Rabasse Nathalie, Bieth Eric, Zaki Maha S, Topcu Meral, Sonmez Fatma Mujgan, Musaev Damir, Stanley Valentina, Bole-Feysot Christine, Nitschké Patrick, Munnich Arnold, Bahi-Buisson Nadia, Fossoud Catherine, Giuliano Fabienne, Colleaux Laurence, Burglen Lydie, Gleeson Joseph G, Boddaert Nathalie, Saiardi Adolfo, Cantagrel Vincent
Abstract excerpt
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-of-function mutations in the multiple inositol-polyphosphate phosphatase 1 gene (MINPP1). Patients are found to have a...
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