ReviewDisease models & mechanisms2019
The expanding spectrum of neurological disorders of phosphoinositide metabolism.
Review in Disease models & mechanisms, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- Phosphoinositide- and Collybistin-Dependent Synaptic Clustering of Gephyrin.Journal of neurochemistry · 2025Article
- P4-ATPases control phosphoinositide membrane asymmetry and neomycin resistance.Nature cell biology · 2025Article
- microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy.Molecular therapy. Nucleic acids · 2025Article
- P4-ATPase control over phosphoinositide membrane asymmetry and neomycin resistance.bioRxiv : the preprint server for biology · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Lipidomics and temporal-spatial distribution of organelle lipid.Journal of biological methods · 2025Review
- Regulation of yeast polarized exocytosis by phosphoinositide lipids.Cellular and molecular life sciences : CMLS · 2024Review
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.Biomolecules · 2024Article
- Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy.The Journal of clinical investigation · 2023Article
- Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity.Disease models & mechanisms · 2023Article
- Pip5k1c Loss in Chondrocytes Causes Spontaneous Osteoarthritic Lesions in Aged Mice.Aging and disease · 2023Article
- X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.Acta neuropathologica · 2022Article
- Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.Brain : a journal of neurology · 2022Article
- The Protective Effect of Edaravone on TDP-43 Plus Oxidative Stress-Induced Neurotoxicity in Neuronal Cells: Analysis of Its Neuroprotective Mechanisms Using RNA Sequencing.Pharmaceuticals (Basel, Switzerland) · 2022Article
- Natural history of a mouse model of X-linked myotubular myopathy.Disease models & mechanisms · 2022Article
- Monitoring the cellular metabolism of a membrane-permeant photo-caged phosphatidylinositol 3,4,5-trisphosphate derivative.Chemistry and physics of lipids · 2021Article
- Article
- Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A.Journal of neuromuscular diseases · 2021Article
- Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour.PloS one · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.