Article

<i>MINPP1</i> prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

2020-05-17

Abstract excerpt

<h4>ABSTRACT</h4> 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 were...

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Literature Corpus work: d92120bf-0ea9-54d5-842e-aad5cbcf4d17
DOI: 10.1101/2020.05.17.100248

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