PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 GeneticVariation disease BEFREE These mutations cause a loss of PLP function leading to a histopathological and clinical phenotype common to both PMS and genetic CNS disorders, like hereditary spastic paraplegias. 29970109 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 Biomarker disease MGD Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2. 28836307 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 GeneticVariation disease BEFREE A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. 24103481 2014
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 Biomarker disease MGD A critical role for the cholesterol-associated proteolipids PLP and M6B in myelination of the central nervous system. 23322581 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 GeneticVariation disease BEFREE An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene. 22101368 2011
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 Biomarker disease MGD Analyses of proteolipid protein mutants show levels of proteolipid protein regulate oligodendrocyte number and cell death in vitro and in vivo. 15662843 2004
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.230 Biomarker disease MGD Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. 9616125 1998