Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
Sign Up to like & getrecommendations! Published in 2019 at "Kidney international"
DOI: 10.1016/j.kint.2018.08.014
Abstract: Although sequence variants in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS), definitive proof of causality in human disease is meager. By whole-exome sequencing, we identified a homozygous frame-shift mutation… read more here.
Keywords: mutation; focal segmental; cd2ap; segmental glomerulosclerosis ... See more keywords
Alzheimer’s disease susceptibility locus in CD2AP is associated with increased cerebrospinal fluid tau levels in mild cognitive impairment
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DOI: 10.1016/j.neulet.2021.136419
Abstract: INTRODUCTION Rs9296559 within CD2-associated protein (CD2AP) has been identified as a susceptibility locus for Alzheimer's disease (AD). Recent studies indicated that CD2AP functioned as a regulator of endocytic trafficking to modulate the β-amyloid (Aβ) generation… read more here.
Keywords: cd2ap; tau; susceptibility locus; tau levels ... See more keywords
Genotyping of T2D susceptible genes in a high risk North-East Indian population
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DOI: 10.1016/j.obmed.2019.100162
Abstract: Abstract Objective Several variants have been reported in certain populations but cannot be reproduced in other populations and this leads to a new domain of challenge in exploring, evaluating and replicating several gene variants particularly… read more here.
Keywords: gene variants; t2d; cd2ap; association ... See more keywords
Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex.
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DOI: 10.1681/asn.2018080860
Abstract: BACKGROUND CD2-associated protein (CD2AP), a slit diaphragm-associated scaffolding protein involved in survival and regulation of the cytoskeleton in podocytes, is considered a "stabilizer" of the slit diaphragm complex that connects the slit diaphragm protein nephrin… read more here.
Keywords: tyrosine phosphorylation; slit diaphragm; cd2ap;