|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1.
|
31004103 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protein 1 (PLP1), encoding a major myelin protein, resulting in profound developmental delay and early lethality.
|
31585094 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The objective of this study was to identify therapeutic chemicals for PMD by quantifying the total levels and membrane localization of PLP1.
|
31110947 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080).
|
31818324 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Together, our results provide evidence that AAV-mediated gene suppression therapy can serve as a potential cure for PMD resulting from PLP1 duplication and possibly for other genomic disorders.
|
31092737 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how different PLP1 mutations disrupt the normal process of myelination and result in PMD and other disorders.
|
31760646 |
2019 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We detected a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family.
|
29486744 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, a single intracerebroventricular injection of MO-PLP into the brains of neonatal mice, carrying a deletion of an intronic splicing enhancer identified in a PMD patient that reduces the Plp1 spliced form, corrected alternative splicing at both RNA and protein levels in the CNS.
|
30195779 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We detected a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family.
|
29486744 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities.
|
29725841 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia.
|
29478609 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Plp1 overexpressing mouse model (PLP-tg<sup>66/66</sup> ) develops a phenotype very similar to human PMD, with early and severe motor dysfunction and a dramatic decrease in lifespan.
|
29027761 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
|
28735559 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Long-range polymerase chain reaction (PCR) is a traditional approach to obtain CNV breakpoint junction, but this method is inefficient when challenged by structural complexity such as often found at the PLP1 locus in association with Pelizaeus-Merzbacher disease (PMD).
|
28334874 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these data provide insights into the pathogeneses of a variety of PLP1 mutations and suggest that disparate etiologies of PMD could require specific treatment approaches for subsets of individuals.
|
28366443 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the proteolipid protein-1 (PLP1) gene, which encodes the proteolipid protein of myelinating oligodendroglia.
|
27882623 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
Biomarker
|
disease |
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 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD).
|
28328133 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients.
|
27793435 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review discusses how PLP1 mutant proteins change protein homeostasis in the ER of oligodendrocytes, especially focusing on the reaction of ER chaperones against the accumulation of PLP1 mutant proteins that cause PMD.
|
28286750 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1.
|
28320130 |
2017 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation.
|
28836307 |
2017 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation.
|
28836307 |
2017 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1.
|
27179222 |
2016 |
|
Pelizaeus-Merzbacher Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |