×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Pelizaeus-Merzbacher disease (PMD ) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (<i>PLP1</i>) located on chromosome Xq22.28101371 2017
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease : a point mutation in exon 6 of the proteolipid protein (PLP ) gene.7541731 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951 2015
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
9788732 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A duplication of the whole PLP gene is the most common mutation and results usually in the milder classical phenotype, whereas point mutations in PLP gene often result in the rarer and more severe connatal form of PMD .
11786921 2002
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
9143933 1997
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A new mutation in the proteolipid protein (PLP ) gene in a German family with Pelizaeus-Merzbacher disease .
1707231 1991
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
10425042 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
7531827 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.
7679906 1993
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.
1708672 1990
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development.
1723945 1990
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685 2014
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A sex-linked recessive form of spastic paraplegia.
14452137 1962
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.
8909455 1996
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Comparison of statistics for candidate-gene association studies using cases and parents.
8037216 1994
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Connatal Pelizaeus-Merzbacher disease : a missense mutation in exon 4 of the proteolipid protein (PLP ) gene.
9747038 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Different mutations in the same codon of the proteolipid protein gene, PLP , may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease /X-linked spastic paraplegia (PMD /SPG2 ).
9934976 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.
7683951 1993
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations.
9008538 1997
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
7539213 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Investigating 82 strictly selected sporadic cases of PMD , we found PLP mutations in 77%; complete PLP -gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).
10417279 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing.
3466187 1986
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
9482656 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Linkage of a new mutation in the proteolipid protein (PLP ) gene to Pelizaeus-Merzbacher disease (PMD ) in a large Finnish kindred.
7684886 1993