MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Animals
Cell Death
Cell Differentiation
Cerebellar Diseases
/ diagnostic imaging
Chelating Agents
/ metabolism
Child
Child, Preschool
Cytoplasm
/ metabolism
Female
Gene Knockout Techniques
HEK293 Cells
Homeostasis
Humans
Infant
Male
Mice, Inbred C57BL
Mice, Knockout
Mutation
Neurodevelopmental Disorders
/ metabolism
Phosphoric Monoester Hydrolases
/ genetics
Phosphorylation
Phytic Acid
/ metabolism
Stem Cells
/ drug effects
Transcriptome
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
30 11 2020
30 11 2020
Historique:
received:
29
06
2019
accepted:
29
10
2020
entrez:
1
12
2020
pubmed:
2
12
2020
medline:
22
12
2020
Statut:
epublish
Résumé
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 distinct type of Pontocerebellar Hypoplasia with typical basal ganglia involvement on neuroimaging. We find that patient-derived and genome edited MINPP1
Identifiants
pubmed: 33257696
doi: 10.1038/s41467-020-19919-y
pii: 10.1038/s41467-020-19919-y
pmc: PMC7705663
doi:
Substances chimiques
Chelating Agents
0
Phytic Acid
7IGF0S7R8I
Phosphoric Monoester Hydrolases
EC 3.1.3.2
multiple inositol-polyphosphate phosphatase
EC 3.1.3.62
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
6087Subventions
Organisme : Medical Research Council
ID : MR/T028904/1
Pays : United Kingdom
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