Orchestration of synaptic functions by WAVE regulatory complex-mediated actin reorganization
The WAVE regulatory complex (WRC), composed of five components—Cyfip1/Sra1,
WAVE/Scar, Abi, Nap1/Nckap1, and Brk1/HSPC300—is essential for proper actin …
WAVE/Scar, Abi, Nap1/Nckap1, and Brk1/HSPC300—is essential for proper actin …
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
T Brunet, R Jech, M Brugger, R Kovacs… - Clinical …, 2021 - Wiley Online Library
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
The role of altered translation in intellectual disability and epilepsy
TJ Malone, LK Kaczmarek - Progress in neurobiology, 2022 - Elsevier
A very high proportion of cases of intellectual disability are genetic in origin and are
associated with the occurrence of epileptic seizures during childhood. These two disorders …
associated with the occurrence of epileptic seizures during childhood. These two disorders …
Structures reveal a key mechanism of WAVE regulatory complex activation by Rac1 GTPase
Abstract The Rho-family GTPase Rac1 activates the WAVE regulatory complex (WRC) to
drive Arp2/3 complex-mediated actin polymerization in many essential processes. Rac1 …
drive Arp2/3 complex-mediated actin polymerization in many essential processes. Rac1 …
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
FM De La Vega, S Chowdhury, B Moore, E Frise… - Genome Medicine, 2021 - Springer
Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …
phenotype is becoming the largest component of cost and time expenditure for genome …
WASP family proteins: Molecular mechanisms and implications in human disease
Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …
Seizures in fragile X syndrome: Associations and longitudinal analysis of a large clinic-based cohort
E Berry-Kravis, RA Filipink, RE Frye, S Golla… - Frontiers in …, 2021 - frontiersin.org
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability,
learning disability, and autism spectrum disorder, is associated with an increased …
learning disability, and autism spectrum disorder, is associated with an increased …
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin …
Purpose A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2
(CYFIP2) gene have recently been described as a novel cause of severe intellectual …
(CYFIP2) gene have recently been described as a novel cause of severe intellectual …
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental
processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental …
processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental …
CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2
Here, we report the generation and comprehensive characterization of a knockin mouse
model for the hotspot p. Arg87Cys variant of the cytoplasmic FMR1‐interacting protein 2 …
model for the hotspot p. Arg87Cys variant of the cytoplasmic FMR1‐interacting protein 2 …