ArticlePLoS genetics2010
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 70 citations in OpenAlex.
- PathogenicHuman mutation · 2026Article
- LRSAM1 mediated the degradation of intracellular Vibrio through the ubiquitination-autophagy-lysosome pathway in oyster.Cell communication and signaling : CCS · 2025Article
- Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics.Nature cardiovascular research · 2023Article
- Molecular Mimicry between Meningococcal B Factor H-Binding Protein and Human Proteins.Global medical genetics · 2023Article
- C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.Scientific reports · 2022Article
- LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.Orphanet journal of rare diseases · 2021Review
- Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.Frontiers in molecular neuroscience · 2021Review
- Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.Frontiers in molecular neuroscience · 2021Review
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus onNeurology · 2020Article
- Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.Journal of human genetics · 2020Article
- The Multifaceted Roles of the Tumor Susceptibility Gene 101 (TSG101) in Normal Development and Disease.Cancers · 2020Review
- E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.Frontiers in physiology · 2020Review
- LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.European journal of human genetics : EJHG · 2019Article
- LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases.Cellular and molecular life sciences : CMLS · 2019Review
- Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.PloS one · 2019Article
- LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype.Cell journal · 2018Article
- Mapping QTL for white striping in relation to breast muscle yield and meat quality traits in broiler chickens.BMC genomics · 2018Article
- Autophagy and Its Interaction With Intracellular Bacterial Pathogens.Frontiers in immunology · 2018Review
- Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapping with high-density SNP genotyping of six affected individuals from the family excluded 23 known genes for various subtypes of CMT and instead identified a single homozygous region on chromosome 9, at 122,423,730-129,841,977 Mbp, shared identical by state in all six affected individuals. A homozygous pathogenic variant was identified in the gene encoding leucine rich repeat and sterile alpha motif 1 (LRSAM1) by direct DNA sequencing of genes within the region in affected DNA samples. The single nucleotide change mutates an intronic consensus acceptor splicing site from AG to AA. Direct analysis of RNA from patient blood demonstrated aberrant splicing of the affected exon, causing an obligatory frameshift and premature truncation of the protein. Western blotting of immortalized cells from a homozygous patient showed complete absence of detectable protein, consistent with the splice site defect. LRSAM1 plays a role in membrane vesicle fusion during viral maturation and for proper adhesion of neuronal cells in culture. Other ubiquitin ligases play documented roles in neurodegenerative diseases. LRSAM1 is a strong candidate for the causal gene for the genetic disorder in our kindred.
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