PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
about
CNV and nervous system diseases--what's new?Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsOligodendroglial membrane dynamics in relation to myelin biogenesisGap junctions in inherited human disorders of the central nervous system.Golgi defects enhance APP amyloidogenic processing in Alzheimer's diseaseProteolipid protein is required for transport of sirtuin 2 into CNS myelinMaternal separation with early weaning: a rodent model providing novel insights into neglect associated developmental deficitsDefective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation.Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationTremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.High-resolution diffusion tensor imaging of fixed brain in a mouse model of Pelizaeus-Merzbacher disease: comparison with quantitative measures of white matter pathology.Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesGenetics and pathophysiology of mental retardation.Using temporal genetic switches to synchronize the unfolded protein response in cell populations in vivo.Functional genomic and proteomic analysis reveals disruption of myelin-related genes and translation in a mouse model of early life neglectMolecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Control of human PLP1 expression through transcriptional regulatory elements and alternatively spliced exons in intron 1Quantitative profiling of brain lipid raft proteome in a mouse model of fragile X syndromeAltered PLP1 splicing causes hypomyelination of early myelinating structures.Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathyEvidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.Targeted deletion of the antisilencer/enhancer (ASE) element from intron 1 of the myelin proteolipid protein gene (Plp1) in mouse reveals that the element is dispensable for Plp1 expression in brain during development and remyelination.Interplay between exercise and dietary fat modulates myelinogenesis in the central nervous system.Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationMitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Contemplating effects of genomic structural variation.Proteolipid protein-deficient myelin promotes axonal mitochondrial dysfunction via altered metabolic coupling.Phylogeny of proteolipid proteins: divergence, constraints, and the evolution of novel functions in myelination and neuroprotection.The myelin proteolipid DMα in fishes.Clinically 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.Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.
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P2860
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@ast
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@en
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@nl
type
label
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@ast
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@en
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@nl
prefLabel
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@ast
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@en
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@nl
P2860
P3181
P1433
P1476
PLP1-related inherited dysmyel ...... and spastic paraplegia type 2
@en
P2093
P2860
P2888
P3181
P356
10.1007/S10048-004-0207-Y
P407
P577
2005-02-01T00:00:00Z