Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2020.106033
Abstract: Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature… read more here.
Keywords: glycosylphosphatidylinositol biosynthesis; pign; vertical nystagmus; feature pign ... See more keywords
Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2115083119
Abstract: Significance Scramblases translocate lipids across the lipid bilayer without consumption of ATP, thereby regulating lipid distributions in cellular membranes. Cytosol-to-lumen translocation across the endoplasmic reticulum (ER) membrane is a common process among lipid glycoconjugates involved… read more here.
Keywords: glycosylphosphatidylinositol biosynthesis; efficient glycosylphosphatidylinositol; lipid scramblase; membrane ... See more keywords