Lista de obras - Stephan Kemp - Dominio Público Uruguay

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2001

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

artículo científico publicado en 2005

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

artículo científico publicado en 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

artículo científico publicado en 2015

Bezafibrate for X-linked adrenoleukodystrophy

artículo científico publicado en 2012

Biochemical aspects of X-linked adrenoleukodystrophy.

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 1993

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Evolution of Adrenoleukodystrophy Model Systems

artículo científico publicado en 2020

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

artículo científico publicado el 13 de diciembre de 2010

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 1994

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

artículo científico publicado en 2005

Intellectual disability and hemizygous GPD2 mutation.

artículo científico publicado en 2013

Invariant NKT cells in adrenoleukodystrophy patients and mice

artículo científico publicado en 2010

Lovastatin in X-linked adrenoleukodystrophy

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2016

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

artículo científico publicado en 2022

Peroxisomes, lipid metabolism and lipotoxicity.

artículo científico publicado en 2010

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

artículo científico publicado en 2000

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2004

Two intronic mutations in the adrenoleukodystrophy gene

artículo científico publicado en 1995

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

X-linked adrenoleukodystrophy: pathogenesis and treatment.

artículo científico

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

artículo científico publicado en 2011

Lista de obras de Stephan Kemp

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

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

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

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

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

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

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

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

Bezafibrate for X-linked adrenoleukodystrophy

Biochemical aspects of X-linked adrenoleukodystrophy.

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

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

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

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

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

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

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

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

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

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

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

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

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

Evolution of Adrenoleukodystrophy Model Systems

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

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

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

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

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

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

Intellectual disability and hemizygous GPD2 mutation.

Invariant NKT cells in adrenoleukodystrophy patients and mice

Lovastatin in X-linked adrenoleukodystrophy

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

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

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.

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

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

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

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

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

Peroxisomes, lipid metabolism and lipotoxicity.

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

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

THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Transporters

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

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

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

Two intronic mutations in the adrenoleukodystrophy gene

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

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

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

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

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

X-linked adrenoleukodystrophy: pathogenesis and treatment.

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