ArticleAnnals of neurology2003
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Article in Annals of neurology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 57 citations in OpenAlex.
- Molecular Mechanisms of Age-Related Taste Dysfunction Deciphered by Spatiotemporal Transcriptomics.Aging cell · 2026Article
- Isoform-specific roles of QKI-6 and QKI-7 direct Schwann cell lineage progression and enhance peripheral nerve regeneration.Experimental & molecular medicine · 2026Article
- Maternal dietary fibre intake results in sex-specific single-cell molecular changes in the heart of the offspring.Clinical science (London, England : 1979) · 2025Article
- Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: "A Rare Case Report".Global pediatric health · 2023Article
- Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.Biomedicines · 2022Review
- Expanding the Clinical and Mutational Spectrum of theBrain sciences · 2021Article
- Emerging Concepts in Vector Development for Glial Gene Therapy: Implications for Leukodystrophies.Frontiers in cellular neuroscience · 2021Review
- A human cell atlas of fetal gene expression.Science (New York, N.Y.) · 2020Article
- Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.Molecular therapy. Nucleic acids · 2018Article
- Auditory function in Pelizaeus-Merzbacher disease.Journal of neurology · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Stem cells (Dayton, Ohio) · 2017Review
- Altered PLP1 splicing causes hypomyelination of early myelinating structures.Annals of clinical and translational neurology · 2015Article
- Young-onset dementia.Seminars in neurology · 2013Review
- Autoimmune T-cell reactivity to myelin proteolipids and glycolipids in multiple sclerosis.Multiple sclerosis international · 2013Review
- Pelizaeus-merzbacher disease: the first genetically approved case report from iran.Iranian journal of pediatrics · 2011Article
- Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Orphanet journal of rare diseases · 2011Article
- Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.Acta neuropathologica · 2009Article
- Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation.BMC genomics · 2008Article
- Suppression subtractive hybridization profiles of radial growth phase and metastatic melanoma cell lines reveal novel potential targets.BMC cancer · 2008Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
Proteolipid protein (PLP1) and its alternatively spliced isoform, DM20, are the major myelin proteins in the CNS, but are also expressed in the PNS. The proteins have an identical sequence except for 35 amino acids in PLP1 (the PLP1-specific domain) not present in DM20. Mutations of PLP1/DM20 cause Pelizaeus-Merzbacher Disease (PMD), a leukodystrophy, and in some instances, a peripheral neuropathy. To identify which mutations cause neuropathy, we have evaluated a cohort of patients with PMD and PLP1 mutations for the presence of neuropathy. As shown previously, all patients with PLP1 null mutations had peripheral neuropathy. We also identified 4 new PLP1 point mutations that cause both PMD and peripheral neuropathy, three of which truncate PLP1 expression within the PLP1-specific domain, but do not alter DM20. The fourth, a splicing mutation, alters both PLP1 and DM20, and is probably a null mutation. Six PLP1 point mutations predicted to produce proteins with an intact PLP1-specific domain do not cause peripheral neuropathy. Sixty-one individuals with PLP1 duplications also had normal peripheral nerve function. These data demonstrate that expression of PLP1 but not DMSO is necessary to prevent neuropathy, and suggest that the 35 amino acid PLP1-specific domain plays an important role in normal peripheral nerve function.
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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.