about
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BHistone deacetylases (HDACs): characterization of the classical HDAC familyABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsBezafibrate for X-linked adrenoleukodystrophyA very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophyX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsMammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.Peroxisomes, lipid metabolism and lipotoxicity.Biochemical aspects of X-linked adrenoleukodystrophy.X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.X-linked adrenoleukodystrophy: pathogenesis and treatment.Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification.A novel cell model to study the function of the adrenoleukodystrophy-related protein.Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.Lovastatin in X-linked adrenoleukodystrophy.X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells.Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes.Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.Two intronic mutations in the adrenoleukodystrophy gene.Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.Intellectual disability and hemizygous GPD2 mutation.Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid.
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
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name
Stephan Kemp
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Stephan Kemp
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Stephan Kemp
@en
Stephan Kemp
@es
Stephan Kemp
@fr
Stephan Kemp
@nl
Stephan Kemp
@sl
type
label
Stephan Kemp
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Stephan Kemp
@de
Stephan Kemp
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Stephan Kemp
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Stephan Kemp
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Stephan Kemp
@nl
Stephan Kemp
@sl
prefLabel
Stephan Kemp
@ast
Stephan Kemp
@de
Stephan Kemp
@en
Stephan Kemp
@es
Stephan Kemp
@fr
Stephan Kemp
@nl
Stephan Kemp
@sl
P1053
A-3935-2008
P106
P1153
7102089150
P21
P31
P3829
P496
0000-0003-2023-064X