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List of works by Stephan Kemp

A novel cell model to study the function of the adrenoleukodystrophy-related protein.

scientific article published on 6 January 2006

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

scientific article published in May 2012

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy

scientific journal article

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

scientific article (publication date: December 2001)

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency

scientific article

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

scientific article published on 17 June 2016

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

scientific article published on 01 July 2003

Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification

scientific article

Bezafibrate for X-linked adrenoleukodystrophy

scientific article

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation ⬇️

scientific article published on March 24, 2012

Biochemical aspects of X-linked adrenoleukodystrophy.

scientific article published on July 2010

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids

scientific article published on 08 January 2008

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy

scientific article

Clinical utility gene card for: Adrenoleukodystrophy ⬇️

scientific article published on November 9, 2011

Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".

scientific article

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

scientific article published on 28 October 2017

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

scientific article published on 01 April 1997

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression

scientific article published on 15 June 2011

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

article

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

scientific article

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

scientific article

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

scientific article published in February 2005

Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.

scientific article published on 11 December 2014

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry

scientific article published on 25 December 2008

Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes

scientific article

Evolution of Adrenoleukodystrophy Model Systems

scientific article published on 29 December 2020

Fatty acid omega‐oxidation as a rescue pathway for fatty acid oxidation disorders in humans ⬇️

scientific article published on December 13, 2010

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

scientific article

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

scientific article published on 9 December 2014

Histone deacetylases (HDACs): characterization of the classical HDAC family

scientific article

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

scientific article published in July 1994

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

scientific article

Intellectual disability and hemizygous GPD2 mutation

scientific article published on 29 March 2013

Invariant NKT cells in adrenoleukodystrophy patients and mice

scientific article published on 01 December 2010

Lovastatin in X-linked adrenoleukodystrophy

scientific article published in January 2010

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

scientific article published on December 2011

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

scientific article published in February 2006

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

scientific article published in January 2017

Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid

scientific article published in October 2004

No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

scientific article published on 01 April 1996

Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy

scientific article published on 17 March 2006

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

scientific article

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

scientific article published on 04 June 2022

Peroxisomes, lipid metabolism and lipotoxicity.

scientific article published on 12 January 2010

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

scientific article published on 01 March 2000

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy

scientific article published on 22 August 2014

THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Transporters

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

scientific article published on 01 October 2006

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

article

The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells.

scientific article published in October 2004

Two intronic mutations in the adrenoleukodystrophy gene

scientific article published in January 1995

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

scientific article published on 23 February 2010

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

scientific article

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

scientific article published on 29 January 2014

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

scientific article published on 28 March 2012

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients

scientific article

X-linked adrenoleukodystrophy: pathogenesis and treatment.

scientific article published on October 2014

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

scientific article published in December 2011

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