Associated Papers
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
Di Donato N et al.
American Journal of Human Genetics, 2026
Mapping protein variants associated with Alzheimer's disease by mass-spectrometry based de novo sequencing assisted strategy.
Emekeeva DD et al.
Journal of Alzheimer's Disease : Jad, 2026
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Cell, 2024
Lost in translation: Illuminating protein mislocalization through high-content screening microscopy.
Dornan LG et al.
Cell Genomics, 2024
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
Reed AE et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Genetics and Pathogenesis of Dystonia.
Thomsen M et al.
Annual Review of Pathology, 2024
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Biorxiv : the Preprint Server for Biology, 2023
Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.
Zavala L et al.
Movement Disorders Clinical Practice, 2022
Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting-Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases.
Sprenkeler EGG et al.
Frontiers in Immunology, 2021
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 2020
Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.
Freitas JL et al.
Movement Disorders Clinical Practice, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins.
Umeki N et al.
Scientific Reports, 2019
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A et al.
Molecular Syndromology, 2019
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.
Cai ED et al.
The Journal of Investigative Dermatology, 2017
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Conboy E et al.
Case Reports in Genetics, 2017
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A et al.
European Journal of Human Genetics : Ejhg, 2015
Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.
Hundt N et al.
The Febs Journal, 2014
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Eker HK et al.
European Journal of Medical Genetics, 2014
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ et al.
Human Mutation, 2013
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
Neutrophil cytoskeletal disease.
Nunoi H et al.
International Journal of Hematology, 2001
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
Nunoi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
The binding of mutant actins to profilin, ATP and DNase I.
Drummond DR et al.
European Journal of Biochemistry, 1992
A method for rapidly screening functionality of actin mutants and tagged actins.
Rommelaere H et al.
Biological Procedures Online, 0