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Article

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.

Molecular psychiatry - 1 Jul 2021

Figueiredo Thalita, Mendes Ana P D, Moreira Danielle P, Goulart Ernesto, Oliveira Danyllo, Kobayashi Gerson S, Stern Shani, Kok Fernando, Marchetto Maria C, Santos Renata, Gage Fred H, Zatz Mayana

Abstract excerpt

A homozygous mutation in the inositol monophosphatase 1 (IMPA1) gene was recently identified in nine individuals with severe intellectual disability (ID) and disruptive behavior. These individuals belong to the same family from Northeastern Brazil, which has 28 consanguineous marriages and 59 genotyped family members. IMPA1 is responsible for the generation of free inositol from de novo biosynthesis and recycling...

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PMID: 32839513
DOI: 10.1038/s41380-020-00862-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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