Phosphoinositides as membrane organizers

Y Posor, W Jang, V Haucke - Nature Reviews Molecular Cell Biology, 2022 - nature.com
Phosphoinositides are signalling lipids derived from phosphatidylinositol, a ubiquitous
phospholipid in the cytoplasmic leaflet of eukaryotic membranes. Initially discovered for their …

Phosphoinositides: regulators of nervous system function in health and disease

P Raghu, A Joseph, H Krishnan, P Singh… - Frontiers in molecular …, 2019 - frontiersin.org
Phosphoinositides, the seven phosphorylated derivatives of phosphatidylinositol have
emerged as regulators of key sub-cellular processes such as membrane transport …

Mitochondria-lysosome contacts regulate mitochondrial Ca2+ dynamics via lysosomal TRPML1

W Peng, YC Wong, D Krainc - Proceedings of the National …, 2020 - National Acad Sciences
Mitochondria and lysosomes are critical for cellular homeostasis, and dysfunction of both
organelles has been implicated in numerous diseases. Recently, interorganelle contacts …

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P

SN Zolov, D Bridges, Y Zhang… - Proceedings of the …, 2012 - National Acad Sciences
Mutations that cause defects in levels of the signaling lipid phosphatidylinositol 3, 5-
bisphosphate [PI (3, 5) P2] lead to profound neurodegeneration in mice. Moreover …

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

J Gilley, O Jackson, M Pipis, MA Estiar, A Al-Chalabi… - Elife, 2021 - elifesciences.org
SARM1, a protein with critical NADase activity, is a central executioner in a conserved
programme of axon degeneration. We report seven rare missense or in-frame microdeletion …

Selectivity, cocrystal structures, and neuroprotective properties of leucettines, a family of protein kinase inhibitors derived from the marine sponge alkaloid …

T Tahtouh, JM Elkins, P Filippakopoulos… - Journal of medicinal …, 2012 - ACS Publications
DYRKs (dual specificity, tyrosine phosphorylation regulated kinases) and CLKs (cdc2-like
kinases) are implicated in the onset and development of Alzheimer's disease and Down …

Charcot–Marie–Tooth neuropathies: current gene therapy advances and the route toward translation

M Stavrou, A Kagiava, I Sargiannidou… - Journal of the …, 2023 - Wiley Online Library
Abstract Charcot–Marie–Tooth (CMT) neuropathies are a group of genetically and
phenotypically heterogeneous disorders that predominantly affect the peripheral nervous …

The synthetic TRPML1 agonist ML-SA1 rescues Alzheimer-related alterations of the endosomal-autophagic-lysosomal system

A Somogyi, ED Kirkham, E Lloyd-Evans… - Journal of Cell …, 2023 - journals.biologists.com
Abnormalities in the endosomal-autophagic-lysosomal (EAL) system are an early event in
Alzheimer's disease (AD) pathogenesis. However, the mechanisms underlying these …

Phosphoinositides and vesicular membrane traffic

P Mayinger - Biochimica et Biophysica Acta (BBA)-Molecular and …, 2012 - Elsevier
Phosphoinositide lipids were initially discovered as precursors for specific second
messengers involved in signal transduction, but have now taken the center stage in …

Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

PM Campeau, GM Lenk, JT Lu, Y Bae… - The American Journal of …, 2013 - cell.com
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial
dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are …