학술논문
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Document Type
article
Author
Ekin Ucuncu; Karthyayani Rajamani; Miranda S. C. Wilson; Daniel Medina-Cano; Nami Altin; Pierre David; Giulia Barcia; Nathalie Lefort; Céline Banal; Marie-Thérèse Vasilache-Dangles; Gaële Pitelet; Elsa Lorino; Nathalie Rabasse; Eric Bieth; Maha S. Zaki; Meral Topcu; Fatma Mujgan Sonmez; Damir Musaev; Valentina Stanley; Christine Bole-Feysot; Patrick Nitschké; Arnold Munnich; Nadia Bahi-Buisson; Catherine Fossoud; Fabienne Giuliano; Laurence Colleaux; Lydie Burglen; Joseph G. Gleeson; Nathalie Boddaert; Adolfo Saiardi; Vincent Cantagrel
Source
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Subject
Language
English
ISSN
2041-1723
Abstract
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.