General aspects and neuropathology of X-linked adrenoleukodystrophy.
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Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in IndiaAdult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.MicroRNAs upregulated during HIV infection target peroxisome biogenesis factors: Implications for virus biology, disease mechanisms and neuropathologyCD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity.Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.Pathophysiology of X-linked adrenoleukodystrophy.Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction.Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.The myelin mutants as models to study myelin repair in the leukodystrophies.Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophyClinical utility gene card for: adrenoleukodystrophy.The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid.Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophyInduced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Induced pluripotent stem cells to model and treat neurogenetic disordersHuman pluripotent stem cells: applications and challenges in neurological diseases.Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophyImpaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.Glutathione imbalance in patients with X-linked adrenoleukodystrophyTauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.Multiple sclerosis in an adrenoleukodystrophy carrier.Mitochondrial dysfunction in central nervous system white matter disorders.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Flow Cytometric Analysis of the Expression Pattern of Peroxisomal Proteins, Abcd1, Abcd2, and Abcd3 in BV-2 Murine Microglial Cells.A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy.Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance.Helicobacter pylori and gut microbiota in multiple sclerosis versus Alzheimer's disease: 10 pitfalls of microbiome studies.Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.Sisyphus in Neverland.Turning skin into brain: using patient-derived cells to model X-linked adrenoleukodystrophy.Regulation of Oligodendrocyte Differentiation and Myelination by Nuclear Receptors: Role in Neurodegenerative Disorders.
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General aspects and neuropathology of X-linked adrenoleukodystrophy.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@en
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@nl
type
label
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@en
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@nl
prefLabel
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@en
General aspects and neuropathology of X-linked adrenoleukodystrophy.
@nl
P2860
P1433
P1476
General aspects and neuropathology of X-linked adrenoleukodystrophy
@en
P2093
Isidro Ferrer
Patrick Aubourg
P2860
P304
P356
10.1111/J.1750-3639.2010.00390.X
P50
P577
2010-07-01T00:00:00Z