(Q37165742)

18 August 2017

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title

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease (English)

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18 August 2017

Karen J Woodward

1

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18 August 2017

publication date

19 May 2008

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Expert Reviews in Molecular Medicine

18 August 2017

published in

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18 August 2017

volume

10

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18 August 2017

page(s)

e14

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Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

18 August 2017

cites work

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21 January 2018

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Proteolipid protein: is it more than just a structural component of myelin?

21 January 2018

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Chemical deacylation reduces the adhesive properties of proteolipid protein and leads to decompaction of the myelin sheath

21 January 2018

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Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease

21 January 2018

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Assembly of myelin by association of proteolipid protein with cholesterol- and galactosylceramide-rich membrane domains

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

Immunocytochemical demonstration of the transport of myelin proteolipids through the Golgi apparatus

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart

21 January 2018

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Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein

21 January 2018

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Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP

21 January 2018

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Major Myelin proteolipid: the 4-alpha-helix topology

21 January 2018

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Repair of myelin disease: strategies and progress in animal models

21 January 2018

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Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin

21 January 2018

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Individual exons encode the integral membrane domains of human myelin proteolipid protein

21 January 2018

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Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

21 January 2018

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21 January 2018

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Genetic background determines phenotypic severity of the Plp rumpshaker mutation

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

Genetics of Pelizaeus-Merzbacher disease

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000677

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Novel alternatively spliced endoplasmic reticulum retention signal in the cytoplasmic loop of Proteolipid Protein-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

The proteolipid protein gene and myelin disorders in man and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Potentiation of myelin proteolipid protein (Plp) gene expression is mediated through AP-1-like binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Genetic background influences UPR but not PLP processing in the rumpshaker model of PMD/SPG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Activation of the unfolded protein response in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

The unfolded protein response is activated in Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Toxic proteins in neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Proteolipid protein is necessary in peripheral as well as central myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Molecular mechanisms for genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Differential expression of apoptotic markers in jimpy and in Plp overexpressors: evidence for different apoptotic pathways

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Pelizaeus-Merzbacher disease: clinical and nosological study

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Connexins are critical for normal myelination in the CNS.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Rumpshaker: an X-linked mutation affecting CNS myelination. A study of the female heterozygote

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Pelizaeus-Merzbacher disease: classical or connatal?

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Induction of the myelin proteolipid protein (PLP) gene in C6 glioblastoma cells: functional analysis of the PLP promotor

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Current concepts of PLP and its role in the nervous system

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Neuropathology and genetics of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

The major myelin protein genes are expressed in the human thymus.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptide

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000677

7 January 2021

10.1017/S1462399408000677

Identifiers

DOI

1 reference

18 August 2017

1 reference