Results 71 to 80 of about 4,156 (218)
Small RAB GTPases Regulate Multiple Steps of Mitosis [PDF]
, 2016 GTPases of the RAB family are key regulators of multiple steps of membrane trafficking. Several members of the RAB GTPase family have been implicated in mitotic progression.
Colombo, Maria Isabel +1 more
core +2 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Lowe syndrome: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global ...
Hyun-Kyung Kim +6 more
doaj +1 more source
Protein Science, Volume 35, Issue 5, May 2026.Abstract Non‐vesicular lipid transport contributes to the regulation of membrane composition and organelle function at membrane contact sites. OSBP‐related proteins (ORPs) are central to this process, yet their interaction networks remain incompletely defined. Here, we systematically screened potential interactions between ORPs and phosphoinositide 3‐,
Filippo Dall'Armellina +2 more
wiley +1 more source
Regulation of Phagocytosis in Dictyostelium by the Inositol 5‐Phosphatase OCRL Homolog Dd5P4 [PDF]
Traffic, 2007 Phosphoinositides are involved in endocytosis in both mammalian cells and the amoeba Dictyostelium discoideum. Dd5P4 is the Dictyostelium homolog of human OCRL (oculocerebrorenal syndrome of Lowe); both have a RhoGAP domain and a 5‐phosphatase domain that acts on phosphatidylinositol 4,5‐bisphosphate/phosphatidylinositol 3,4,5‐trisphosphate (PI(3,4,5 ...
van Haastert, Peter J. M. +5 more
openaire +4 more sources
Imaging of Intracellular and Plasma Membrane Pools of PI(4,5)P2 and PI4P in Human Platelets
Life, 2021 Phosphoinositides (PIs) are phosphorylated membrane lipids that have a plethora of roles in the cell, including vesicle trafficking, signaling, and actin reorganization.
Ana Bura, Antonija Jurak Begonja
doaj +1 more source
Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Role of cytoskeleton-related proteins in the acrosome reaction of Eriocheir sinensis spermatozoa
BMC Genomic Data, 2023 Cytoskeleton-related proteins are essential for cell shape maintenance and cytoskeleton remodeling. The spermatozoa of Eriocheir sinensis (Chinese mitten crab) have a unique cellular structure, and the mechanism of spermatozoal metamorphosis during the ...
Yulian Tang +6 more
doaj +1 more source
Gαq signalling from endosomes: A new conundrum
British Journal of Pharmacology, Volume 182, Issue 14, Page 3068-3089, July 2025.Abstract G‐protein‐coupled receptors (GPCRs) constitute the largest family of membrane receptors, and are involved in the transmission of a variety of extracellular stimuli such as hormones, neurotransmitters, light and odorants into intracellular responses.
Carole Daly, Bianca Plouffe
wiley +1 more source
Journal of Neurodevelopmental Disorders, 2020 Background Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization.
Hequn Liu +7 more
doaj +1 more source