Mutations in phosphoinositide metabolizing enzymes and human disease

Heather J. McCrea, Pietro De Camilli

Research output: Contribution to journalReview articlepeer-review

143 Scopus citations


Phosphoinositides are implicated in the regulation of a wide variety of cellular functions. Their importance in cellular and organismal physiology is underscored by the growing number of human diseases linked to perturbation of kinases and phosphatases that catalyze interconversion from one phosphoinositide to another. Many such enzymes are attractive targets for therapeutic interventions. Here, we review diseases linked to inheritable or somatic mutations of these enzymes.

Original languageEnglish (US)
Pages (from-to)8-16
Number of pages9
Issue number1
StatePublished - Feb 2009
Externally publishedYes

ASJC Scopus subject areas

  • Physiology


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