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Article

Mendelian disorders of PI metabolizing enzymes.

Biochimica et biophysica acta - 1 Jun 2015

Staiano Leopoldo, De Leo Maria Giovanna, Persico Maria, De Matteis Maria Antonietta

Abstract excerpt

More than twenty different genetic diseases have been described that are caused by mutations in phosphoinositide metabolizing enzymes, mostly in phosphoinositide phosphatases. Although generally ubiquitously expressed, mutations in these enzymes, which are mainly loss-of-function, result in tissue-restricted clinical manifestations through mechanisms that are not completely understood. Here we analyze selected...

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Identifiers

PMID: 25510381
DOI: 10.1016/j.bbalip.2014.12.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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