ArticleProceedings of the National Academy of Sciences of the United States of America2007
A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 78 citations in OpenAlex.
- Review
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.Trends in molecular medicine · 2024Review
- Pathogenic myelin-specific antibodies in multiple sclerosis target conformational proteolipid protein 1-anchored membrane domains.The Journal of clinical investigation · 2023Article
- Autophagic degradation of CNS myelin maintains axon integrity.Cell stress · 2022Article
- Identification of Potential Interacting Proteins With the Extracellular Loops of the Neuronal Glycoprotein M6a by TMT/MS.Frontiers in synaptic neuroscience · 2020Article
- Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.Cell stem cell · 2019Article
- PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations.Journal of clinical medicine · 2018Article
- Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.Neuroscience letters · 2018Article
- Unconventional Myosin ID is Involved in Remyelination After Cuprizone-Induced Demyelination.Neurochemical research · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.American journal of human genetics · 2017Article
- Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Stem cells (Dayton, Ohio) · 2017Review
- Inflammatory demyelinating diseases of the central nervous system.Handbook of clinical neurology · 2017Review
- Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress.Frontiers in molecular biosciences · 2017Review
- Fluorescent flavonoids for endoplasmic reticulum cell imaging.Journal of materials chemistry. B · 2016Article
- Novel molecular insights into the critical role of sulfatide in myelin maintenance/function.Journal of neurochemistry · 2016Article
- Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Frontiers in molecular neuroscience · 2016Review
- Mechanism and Regulation of Autophagy and Its Role in Neuronal Diseases.Molecular neurobiology · 2015Review
- Spatial Intensity Distribution Analysis Reveals Abnormal Oligomerization of Proteins in Single Cells.Biophysical journal · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large number of mutations in the human PLP1 gene lead to abnormal myelination and oligodendrocyte death in Pelizaeus-Merzbacher disease (PMD). Here we show that a major subgroup of PMD mutations that map into the extracellular loop region of PLP/DM20 leads to the failure of oligodendrocytes to form the correct intramolecular disulfide bridges. This leads to abnormal protein cross-links and endoplasmic reticulum retention and activates the unfolded protein response. Importantly, surface expression of mutant PLP/DM20 can be restored and the unfolded protein response can be reverted by the removal of two cysteines. Thus, covalent protein cross-links emerge as a cause, rather than as a consequence, of endoplasmic reticulum retention.
Indexed as
Identifiers
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.