Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106, PMID:30208311 | Developmental Disabilities | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | genetic disease | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10401787 more ... | hereditary spastic paraplegia | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:10319897 more ... | hereditary spastic paraplegia 2 | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar | PMID:10319885 more ... | intellectual disability | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Muscle Spasticity | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Spasticity | ClinVar | | Pelizaeus-Merzbacher disease | | ISO | RGD:732304 | 8554872 | ClinVar more ... | ClinVar | PMID:10319897 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:732304 | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Myelin-deficient rat: a point mutation in exon III (A----C, Thr75----Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death. | Boison D and Stoffel W, EMBO J 1989 Nov;8(11):3295-302. |
| 2. | Proteolipid protein gene modulates viability and phenotype of neurons. | Boucher SE, etal., J Neurosci 2002 Mar 1;22(5):1772-83. |
| 3. | Myelin deficiency (md): a neurologic mutant in the Wistar rat. | Csiza CK and de Lahunta A, Am J Pathol 1979 Apr;95(1):215-23. |
| 4. | Molecular cloning and nucleotide sequence of a cDNA clone coding for rat brain myelin proteolipid. | Dautigny A, etal., FEBS Lett 1985 Aug 19;188(1):33-6. |
| 5. | Abnormal compact myelin in the myelin-deficient rat: absence of proteolipid protein correlates with a defect in the intraperiod line. | Duncan ID, etal., Proc Natl Acad Sci U S A 1987 Sep;84(17):6287-91. |
| 6. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | Ontogeny of glycerol phosphate dehydrogenase-positive oligodendrocytes in rat brain. Impaired differentiation of oligodendrocytes in the myelin deficient mutant rat. | Gordon MN, etal., Int J Dev Neurosci 1992 Aug;10(4):243-53. |
| 8. | Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes. | Gudz TI, etal., J Neurosci 2002 Sep 1;22(17):7398-407. |
| 9. | Glutamate stimulates oligodendrocyte progenitor migration mediated via an alphav integrin/myelin proteolipid protein complex. | Gudz TI, etal., J Neurosci. 2006 Mar 1;26(9):2458-66. doi: 10.1523/JNEUROSCI.4054-05.2006. |
| 10. | Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. | Hudson LD J Child Neurol 2003 Sep;18(9):616-24. |
| 11. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 12. | Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein. | Milner RJ, etal., Cell 1985 Oct;42(3):931-9. |
| 13. | Gene expression and oligodendrocyte development in the myelin deficient rat. | Nadon NL and Duncan ID, J Neurosci Res 1995 May 1;41(1):96-104. |
| 14. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 16. | Exacerbation of experimental autoimmune encephalomyelitis in rodents infected with murine gammaherpesvirus-68. | Peacock JW, etal., Eur J Immunol. 2003 Jul;33(7):1849-58. doi: 10.1002/eji.200323148. |
| 17. | GOA pipeline | RGD automated data pipeline |
| 18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 20. | Cloned proteolipid protein and myelin basic protein cDNA. Transcription of the two genes during myelination. | Schaich M, etal., Biol Chem Hoppe Seyler 1986 Aug;367(8):825-34. |
| 21. | Two-dimensional electrophoresis with cationic detergents: a powerful tool for the proteomic analysis of myelin proteins. Part 2: analytical aspects. | Yamaguchi Y, etal., J Neurosci Res. 2008 Mar;86(4):766-75. |
| 22. | A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. | Yamamoto T and Nanba E, Hum Mutat 1999 Aug 19;14(2):182. |
| 23. | Downregulation of microRNA-199a-5p alleviated lidocaine-induced sensory dysfunction and spinal cord myelin lesions in a rat model. | Zhang Z, etal., Toxicol Lett. 2021 Jan 1;336:1-10. doi: 10.1016/j.toxlet.2020.11.001. Epub 2020 Nov 6. |
| 24. | [Effect of Yishen Daluo Decoction on the expression of PLP, Olig1, and Olig2 in mice with experimental autoimmune encephalomyelitis]. | Zhu WH, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2014 May;34(5):562-5. |
Additional References at PubMed
| PMID:1150661 | PMID:1373175 | PMID:1689377 | PMID:1694232 | PMID:1702593 | PMID:2432393 | PMID:2441390 | PMID:11746780 | PMID:12477932 | PMID:14169723 | PMID:16288477 | PMID:17634366 |
| PMID:17962415 | PMID:19808102 | PMID:20578039 | PMID:21784154 | PMID:22871113 | PMID:22926577 | PMID:24038504 | PMID:24103481 | PMID:25003183 | PMID:25368380 | PMID:25936639 | PMID:26002313 |
| PMID:26563642 | PMID:28251676 | PMID:29476059 | PMID:31885393 | PMID:32357304 |
Genomics
Comparative Map Data
| Plp1 (Rattus norvegicus - Norway rat) |
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| PLP1 (Homo sapiens - human) |
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| Plp1 (Mus musculus - house mouse) |
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| Plp1 (Chinchilla lanigera - long-tailed chinchilla) |
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| PLP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PLP1 (Canis lupus familiaris - dog) |
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| Plp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PLP1 (Sus scrofa - pig) |
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| PLP1 (Chlorocebus sabaeus - green monkey) |
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| Plp1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Plp1
22 total Variants 
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