Associated Papers
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.
Meyer AP et al.
Neuromuscular Disorders : Nmd, 2025
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
Liu Y et al.
Human Molecular Genetics, 2024
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1
Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Glyakina AV et al.
Biophysical Reviews, 2022
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
Mc Glacken-Byrne AB et al.
Bmc Ophthalmology, 2020
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Joureau B et al.
Annals of Neurology, 2018
The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.
Yang L et al.
Molecular Medicine Reports, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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