ArticleAmerican journal of human genetics2000
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.
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Who cites it
113 citing papers in PubMed, 1 synthesis or guideline pooled it, 349 citations in OpenAlex.
- NDRG1 regulates neutral lipid metabolism in breast cancer cells.Breast cancer research : BCR · 2018Pooled it
- A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Trial
- Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.Journal of neuromuscular diseases · 2026Article
- A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.Acta neuropathologica · 2026Article
- Variation of Myelin-associated Gene Expression andbioRxiv : the preprint server for biology · 2025Article
- Insight into the Regulation of NDRG1 Expression.International journal of molecular sciences · 2025Review
- Identification and Characterization of Novel Founder Mutations inInternational journal of molecular sciences · 2024Article
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.Research square · 2024Article
- Irrespective of Plaque Activity, Multiple Sclerosis Brain Periplaques Exhibit Alterations of Myelin Genes and a TGF-Beta Signature.International journal of molecular sciences · 2022Article
- NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance.Communications biology · 2022Article
- Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease.Molecular and cellular biology · 2022Article
- A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Tongue atrophy as a neurological finding in hereditary polyneuropathy in Alaskan malamutes.Journal of veterinary internal medicine · 2022Article
- Article
- Iron-Chelation Treatment by Novel Thiosemicarbazone Targets Major Signaling Pathways in Neuroblastoma.International journal of molecular sciences · 2021Article
- Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.Audiology research · 2021Review
- Differential expression and hypoxia-mediated regulation of the N-myc downstream regulated gene family.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.Frontiers in molecular neuroscience · 2021Review
- Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
Abstract
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell differentiation, and cell-cell interactions in the peripheral nervous system. Autosomal recessive peripheral neuropathies are relatively rare but are clinically more severe than autosomal dominant forms of CMT, and understanding their molecular basis may provide a new perspective on these mechanisms. Here we report the identification of the gene responsible for hereditary motor and sensory neuropathy-Lom (HMSNL). HMSNL shows features of Schwann-cell dysfunction and a concomitant early axonal involvement, suggesting that impaired axon-glia interactions play a major role in its pathogenesis. The gene was previously mapped to 8q24.3, where conserved disease haplotypes suggested genetic homogeneity and a single founder mutation. We have reduced the HMSNL interval to 200 kb and have characterized it by means of large-scale genomic sequencing. Sequence analysis of two genes located in the critical region identified the founder HMSNL mutation: a premature-termination codon at position 148 of the N-myc downstream-regulated gene 1 (NDRG1). NDRG1 is ubiquitously expressed and has been proposed to play a role in growth arrest and cell differentiation, possibly as a signaling protein shuttling between the cytoplasm and the nucleus. We have studied expression in peripheral nerve and have detected particularly high levels in the Schwann cell. Taken together, these findings point to NDRG1 having a role in the peripheral nervous system, possibly in the Schwann-cell signaling necessary for axonal survival.
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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.