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   Articles with "minpp1" as a keyword



MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

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recommendations! Published in 2020 at "Nature Communications"

DOI: 10.1038/s41467-020-19919-y

Abstract: 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… read more here.

Keywords: inositol; accumulation; inositol hexakisphosphate; minpp1 ... See more keywords

Stable Isotopomers of myo-Inositol Uncover a Complex MINPP1-Dependent Inositol Phosphate Network

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recommendations! Published in 2022 at "ACS Central Science"

DOI: 10.1101/2022.08.29.505671

Abstract: The water-soluble inositol phosphates (InsPs) represent a functionally diverse group of small-molecule messengers central to a myriad of cellular processes. However, we have an incomplete understanding of InsP metabolism because the available analytical toolset for… read more here.

Keywords: inositol; minpp1; inositol phosphates; stable isotopomers ... See more keywords

Multiple Inositol Polyphosphate Phosphatase Compartmentalization Separates Inositol Phosphate Metabolism from Inositol Lipid Signaling

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recommendations! Published in 2023 at "Biomolecules"

DOI: 10.3390/biom13060885

Abstract: Multiple inositol polyphosphate phosphatase (MINPP1) is an enigmatic enzyme that is responsible for the metabolism of inositol hexakisphosphate (InsP6) and inositol 1,3,4,5,6 pentakisphosphate (Ins(1,3,4,5,6)P5 in mammalian cells, despite being restricted to the confines of the… read more here.

Keywords: inositol; minpp1; phosphatase; metabolism inositol ... See more keywords

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder

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recommendations! Published in 2025 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms26115213

Abstract: Pontocerebellar hypoplasia (PCH) encompasses a group of autosomal recessive neurodegenerative disorders marked by cerebellar and pontine atrophy. Multiple subtypes of PCH have been identified, among which the rare subtype PCH type 16 is caused by… read more here.

Keywords: function variant; pontocerebellar hypoplasia; loss function; variant minpp1 ... See more keywords