The molecular pathogenesis of Pelizaeus-Merzbacher disease
about
Gap junctions couple astrocytes and oligodendrocytesHereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseAntibody-Mediated Oligodendrocyte Remyelination Promotes Axon Health in Progressive Demyelinating DiseaseRepression of myelin proteolipid protein gene expression is mediated through both general and cell type-specific negative regulatory elements in nonexpressing cellsDiffusion tensor imaging of patients with proteolipid protein 1 gene mutations.Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene.CNS myelination and PLP gene dosage.Insertion of mutant proteolipid protein results in missorting of myelin proteins.Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 geneInsertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphateProgenitor cell-based treatment of the pediatric myelin disordersThe unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.Survival of, and competition between, oligodendrocytes expressing different alleles of the Plp gene.Mutation in the myelin proteolipid protein gene alters BK and SK channel function in the caudal medulla.Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesClinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brainGenomic and Proteomic Biomarker Discovery in Neurological Disease.Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Glial progenitor cell-based treatment of the childhood leukodystrophies.Zebrafish as a Model for the Study of Chaperonopathies.Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease.Synthesis and secondary structure of loop 4 of myelin proteolipid protein: effect of a point mutation found in Pelizaeus-Merzbacher disease.Myelin proteolipid protein (Plp) intron 1 DNA is required to temporally regulate Plp gene expression in the brain.A PLP splicing abnormality is associated with an unusual presentation of PMD.Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
P2860
Q24645936-7BD30944-6BCC-4D6C-B5D7-78F261353AB0Q24654250-F3310A40-1E77-4A4B-A52C-7FBF50C80B58Q24682835-5E8E4F7C-2070-4156-B33C-02DE1615DDF6Q28080515-6BEEC703-6D6D-43D1-98FD-8E3994CECFFAQ28513625-1300158A-1872-4F26-9881-0AC377AEC643Q30844881-29C9AE06-936D-4D0B-A5E3-7D98E40C75B6Q34199635-51CE12C3-6DC2-4FA5-B60B-AA6C81645A94Q34355269-AA8D6298-DA38-456B-AD6A-54E0411F968DQ34955982-FF2A1AA7-FE40-46E0-B78C-8B77337A8CDDQ35144130-137C8ADE-5A00-411E-890F-69929D9FBB8AQ35914460-A210C7DF-12AC-4850-AD5C-6919689272F3Q35983132-C2AD96A2-4452-4CA5-B57D-CE306D249433Q36155932-59A45620-C9AE-443E-A07D-560E383BE2D1Q36325659-42697E86-D73A-41AD-A4CF-7049C746CECCQ36493387-FCF1197C-C43E-4F54-B728-7EE02A89C53AQ36508553-659E2749-47C9-4CCC-901D-3A6E48925A0DQ36744667-4EEDE76D-928A-431C-8A7D-C016EAC746FCQ37203101-4978C108-E179-4410-BB64-350D1DA6ED34Q37532581-0D669C6D-1B10-4EFF-88E4-A9F3C24AD12BQ37541706-8933B6E8-3912-4F39-BF3F-D4AEE3548EF0Q37649702-5578C54B-D527-4234-9FE8-D60D016ED6CBQ37684345-A3C74D1E-E4B6-4530-9464-3DE4D8F96EF3Q38712393-E649EEF9-B8D0-469B-AC9D-DD5BD09A06C7Q40374604-9EAC8D51-E163-47B1-BA96-B44350B2D52CQ40737791-42EFBD72-7855-4156-A0E5-95DC33F2EB2BQ46637218-0D2CAC69-E212-4717-8D0C-CB435E3FE17EQ48477173-D3718E73-4CB2-498A-BCE2-FD6DF8E91FC1Q48480596-3B13B13B-2EC2-4B30-A802-2FF1DC4A4037Q55038489-6BDF0A1A-C715-4027-8BAA-3E5CFF56F03FQ57537928-52214AF3-4083-481C-8941-5DCE11680A41
P2860
The molecular pathogenesis of Pelizaeus-Merzbacher disease
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@ast
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@en
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@nl
type
label
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@ast
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@en
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@nl
prefLabel
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@ast
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@en
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@nl
P2093
P1433
P1476
The molecular pathogenesis of Pelizaeus-Merzbacher disease
@en
P2093
P304
P356
10.1001/ARCHNEUR.56.10.1210
P407
P577
1999-10-01T00:00:00Z