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

The FEBS journal, 2011-01, Vol.278 (2), p.182-194

2011

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

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.51-51

2012

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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.83-83

2012

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Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.709-714

2014

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enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.479-494

2010

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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

PloS one, 2016-04, Vol.11 (4), p.e0154597-e0154597

2016

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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-358, Article 358

2023

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Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

PloS one, 2016-05, Vol.11 (5), p.e0155143-e0155143

2016

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Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.5-12

2012

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The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Journal of inherited metabolic disease, 2016-07, Vol.39 (4), p.531-543

2016

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The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters

The FASEB journal, 2008-12, Vol.22 (12), p.4201-4208

2008

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Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

PloS one, 2011-12, Vol.6 (12), p.e28539-e28539

2011

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The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

Annual review of physiology, 2016-01, Vol.78 (1), p.23-44

2016

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Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids

Proceedings of the National Academy of Sciences - PNAS, 2013-01, Vol.110 (4), p.1279-1284

2013

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Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Scientific reports, 2022-02, Vol.12 (1), p.2512-2512, Article 2512

2022

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Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

Neurology, 2014-03, Vol.82 (11), p.963-968

2014

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general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.469-477

2010

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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

The New England journal of medicine, 2014-11, Vol.371 (20), p.1900-1907

2014

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

British journal of pharmacology, 2011-12, Vol.164 (7), p.1753-1766

2011

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Mutations in PEX10 are a cause of autosomal recessive ataxia

Annals of neurology, 2010-08, Vol.68 (2), p.259-263

2010

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Brain (London, England : 1878), 2011, Vol.134 (Pt 1), p.210-219

2011

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Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (46), p.17712-17717

2008

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Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

Reviews in endocrine & metabolic disorders, 2018-03, Vol.19 (1), p.93-106

2018

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Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

Nature communications, 2018-05, Vol.9 (1), p.1761-13, Article 1761

2018

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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.873-879

2015

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

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

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism

enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids

Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

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

Mutations in PEX10 are a cause of autosomal recessive ataxia

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

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