ArticleAmerican journal of human genetics2001
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 58 papers, 1 of them a synthesis that pooled it.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 217 citations in OpenAlex.
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.Genome biology · 2021Pooled it
- Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.Neurogenetics · 2026Article
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.Investigative ophthalmology & visual science · 2025Article
- Periaxin gene variants are linked to age-related cataracts in Cx46 deficient lenses.Communications biology · 2025Article
- Proteomic Analysis of Chronic Binge Alcohol-Induced Hippocampal and Anterior Cingulate Cortex Neuroadaptations in Simian Immunodeficiency Virus (SIV)-Infected Female Rhesus Macaques.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2025Article
- Transcriptomic Insights into Post-Spawning Death and Muscle Atrophy in Ayu (International journal of molecular sciences · 2025Article
- Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F.The Neurohospitalist · 2023Article
- Screening forFrontiers in neurology · 2023Article
- Neurological involvement in monogenic podocytopathies.Pediatric nephrology (Berlin, Germany) · 2021Review
- Flexible Players within the Sheaths: The Intrinsically Disordered Proteins of Myelin in Health and Disease.Cells · 2020Review
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.The Journal of international medical research · 2020Article
- Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.Neurogenetics · 2019Article
- Article
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.Journal of child neurology · 2018Article
- Expression of periaxin (PRX) specifically in the human cerebrovascular system: PDZ domain-mediated strengthening of endothelial barrier function.Scientific reports · 2018Article
- MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.Human molecular genetics · 2018Article
- Accurate PDZ/Peptide Binding Specificity with Additive and Polarizable Free Energy Simulations.Biophysical journal · 2018Article
- Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.Acta neuropathologica · 2017Article
- Optimal myelin elongation relies on YAP activation by axonal growth and inhibition by Crb3/Hippo pathway.Nature communications · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997).
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.