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The expanding spectrum of neurological disorders of phosphoinositide metabolism. | LitMetric

The expanding spectrum of neurological disorders of phosphoinositide metabolism.

Dis Model Mech

Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada

Published: August 2019

AI Article Synopsis

  • - Phosphoinositides (PIPs) are essential phospholipids that influence various cellular processes like membrane properties, cell signaling, and cytoskeletal changes while their levels are controlled by specific enzymes that add or remove phosphate groups.
  • - Mutations in the enzymes that regulate PIPs are linked to several neurological disorders, such as epilepsy, neurodegenerative diseases, and other muscle and nerve-related conditions.
  • - The review investigates how PIPs function and are regulated, highlights the genetic disorders tied to PIP metabolism, and discusses insights gained from animal models about gene functions and disease mechanisms.

Article Abstract

Phosphoinositides (PIPs) are a ubiquitous group of seven low-abundance phospholipids that play a crucial role in defining localized membrane properties and that regulate myriad cellular processes, including cytoskeletal remodeling, cell signaling cascades, ion channel activity and membrane traffic. PIP homeostasis is tightly regulated by numerous inositol kinases and phosphatases, which phosphorylate and dephosphorylate distinct PIP species. The importance of these phospholipids, and of the enzymes that regulate them, is increasingly being recognized, with the identification of human neurological disorders that are caused by mutations in PIP-modulating enzymes. Genetic disorders of PIP metabolism include forms of epilepsy, neurodegenerative disease, brain malformation syndromes, peripheral neuropathy and congenital myopathy. In this Review, we provide an overview of PIP function and regulation, delineate the disorders associated with mutations in genes that modulate or utilize PIPs, and discuss what is understood about gene function and disease pathogenesis as established through animal models of these diseases.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737944PMC
http://dx.doi.org/10.1242/dmm.038174DOI Listing

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