ArticleHuman genetics2020
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Article in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- An activity-modulated transport route across myelin (TRAM) for motor-driven organelle transfer in oligodendrocytes.Nature neuroscience · 2026Article
- Aging and diet alter the protein ubiquitylation landscape in the mouse brain.Nature communications · 2025Article
- Nanobodies against the myelin enzyme CNPase as tools for structural and functional studies.Journal of neurochemistry · 2025Article
- Nanobodies against the myelin enzyme CNPase as tools for structural and functional studies.bioRxiv : the preprint server for biology · 2024Article
- HomozygousGenes · 2024Article
- Sbp2l contributes to oligodendrocyte maturation through translational control in Tcf7l2 signaling.iScience · 2023Article
- Uncovering oligodendrocyte enhancers that control Cnp expression.Human molecular genetics · 2023Article
- Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).Neurology international · 2023Review
- A HomozygousGenes · 2023Article
- Mechanisms of axonal support by oligodendrocyte-derived extracellular vesicles.Nature reviews. Neuroscience · 2023Review
- Neurodegenerative Disorder Risk in Krabbe Disease Carriers.International journal of molecular sciences · 2022Article
- Daam2 Regulates Myelin Structure and the Oligodendrocyte Actin Cytoskeleton through Rac1 and Gelsolin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Variants inHGG advances · 2021Article
- Hypomyelinating leukodystrophies - unravelling myelin biology.Nature reviews. Neurology · 2021Review
- The CNS Myelin Proteome: Deep Profile and Persistence After Post-mortem Delay.Frontiers in cellular neuroscience · 2020Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myelin pathologies are an important cause of multifactorial, e.g., multiple sclerosis, and Mendelian, e.g., leukodystrophy, neurological disorders. CNP encodes a major component of myelin and its CNS expression is exclusive to myelin-forming oligodendrocytes. Deficiency of CNP in mouse causes a lethal white matter neurodegenerative phenotype. However, a corresponding human phenotype has not been described to date. Here, we describe a multiplex consanguineous family from Oman in which multiple affected members display a remarkably consistent phenotype of neuroregression with profound brain white matter loss. A novel homozygous missense variant in CNP was identified by combined autozygome/exome analysis. Immunoblot analysis suggests that this is a null allele in patient fibroblasts, which display abnormal F-actin organization. Our results suggest the establishment of a novel CNP-related hypomyelinating leukodystrophy in humans.
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