Skip to Main Content

Paper Details

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Nat Commun
24
2020
HEK293 cells, IP6, Inositol polyphosphates, MINPP1, MINPP1 deficiency, MINPP1-/- induced stem cells, Patients, Pontocerebellar Hypoplasia, calcium, fibroblasts, human, iPSCs, inositol hexakisphosphate, inositol polyphosphate, inositol-polyphosphate, inositols, iron, multiple inositol-polyphosphate phosphatase 1 gene, mutant cells, neurodegenerative syndrome, neurons, patient
Author NameAffiliation
Maha S ZakiClinical Genetics Department, National Research Centre
Patrick NitschkeUniversite de Paris, Imagine Institute, INSERM UMR 1163
Joseph G GleesonRady Children's Institute for Genomic Medicine, University of California San Diego
Adolfo SaiardiUniversity College London
  • 1 - 4

Datasets

Release 1.2