MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
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 Saad Zaki, , Vincent Cantagrel
This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.
Nature Communications · Nov 30, 2020Peer-reviewedGenetics