ArticleJournal of medical genetics2020
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- BiallelicJournal of neuromuscular diseases · 2026Article
- Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.Cellular and molecular life sciences : CMLS · 2025Article
- Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.Animal genetics · 2025Article
- A novelFrontiers in genetics · 2025Article
- Structure-Based Modeling of Sigma 1 Receptor Interactions with Ligands and Cholesterol and Implications for Its Biological Function.International journal of molecular sciences · 2023Article
- EST79232 and EST79376, Two Novel Sigma-1 Receptor Ligands, Exert Neuroprotection on Models of Motoneuron Degeneration.International journal of molecular sciences · 2022Article
- The role of sigma 1 receptor in organization of endoplasmic reticulum signaling microdomains.eLife · 2021Article
- The multi-functional RNA-binding protein G3BP1 and its potential implication in neurodegenerative disease.Journal of neurochemistry · 2021Review
- Sigma-1 Receptor (S1R) Interaction with Cholesterol: Mechanisms of S1R Activation and Its Role in Neurodegenerative Diseases.International journal of molecular sciences · 2021Article
- A NovelFrontiers in genetics · 2021Article
- Sigma-1 Receptor is a Pharmacological Target to Promote Neuroprotection in the SOD1Frontiers in pharmacology · 2021Article
- Wildtype σ1 receptor and the receptor agonist improve ALS-associated mutation-induced insolubility and toxicity.The Journal of biological chemistry · 2020Article
- Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Neuromuscular disorders : NMD · 2020Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundDistal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our aim was to identify and characterise the genetic cause of HMNJ.
methodsWe used whole exome and Sanger sequencing to identify a novel genetic variant associated with the disease and then carried out immunoblot, immunofluorescence and apoptosis assays to extract functional data and clarify the effect of this novel
resultsA homozygous missense mutation (c.500A>T, N167I) in exon 4 of the
conclusionIn conclusion, the homozygous
Indexed as
Identifiers
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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.