A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
Sign Up to like & getrecommendations! Published in 2020 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddz318
Abstract: Abstract Mutations in each of the four human VPS13 (VPS13A–D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson’s disease and spastic ataxia. Recent evidence suggests that the different VPS13 paralogs transport… read more here.
Keywords: yeast vps13; spastic ataxia; vps13; vab domain ... See more keywords
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
Sign Up to like & getrecommendations! Published in 2017 at "Haematologica"
DOI: 10.3324/haematol.2017.167601
Abstract: Class I phosphoinositide-3-kinases (PI3Ks) convert phosphoinositol-4,5-bisphosphate to phosphoinositol3,4,5-trisphosphate, a lipid second messenger produced mainly at plasma membranes where it recruits and activates pleckstrin homology domain-containing proteins, including the well known protein kinase AKT. Class IA… read more here.
Keywords: binding domain; p110; pi3k syndrome; activated pi3k ... See more keywords