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Peroxisomes, lipid metabolism and lipotoxicity

Biochimica et biophysica acta, 2010-03, Vol.1801 (3), p.272-280

2010

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Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100617-100617, Article 100617

2020

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Journal of medical genetics, 2010-09, Vol.47 (9), p.608-615

2010

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Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

American journal of human genetics, 2006-06, Vol.78 (6), p.1046-1052

2006

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Diagnostic pitfall in antenatal manifestations of CPT II deficiency

Clinical genetics, 2016-02, Vol.89 (2), p.193-197

2016

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MRI as diagnostic tool in early-onset peroxisomal disorders

Neurology, 2012-04, Vol.78 (17), p.1304-1308

2012

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Subcellular localization and physiological role of alpha-methylacyl-CoA racemase

Journal of lipid research, 2000-11, Vol.41 (11), p.1890-1896

2000

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A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways

Journal of lipid research, 2005-04, Vol.46 (4), p.716-726

2005

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Metabolism of phytol to phytanic acid in the mouse, and the role of PPARα in its regulation

Journal of lipid research, 2007-01, Vol.48 (1), p.77-85

2007

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Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

Journal of neurology, neurosurgery and psychiatry, 2008-04, Vol.79 (4), p.448-450

2008

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Nature genetics, 1997-10, Vol.17 (2), p.190-193

1997

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Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.111-115

2006

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Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation

FEBS letters, 2006-04, Vol.580 (8), p.2092-2096

2006

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Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders

Journal of lipid research, 2002-03, Vol.43 (3), p.438-444

2002

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Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency

Neurology, 2004-07, Vol.63 (1), p.188-189

2004

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Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

JIMD Reports, Volume 34, 2017, Vol.34, p.71-75

2017

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Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

Neurology, 2004-06, Vol.62 (11), p.2077-2081

2004

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Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

Genetics in medicine, 2023-11, Vol.25 (11), p.100944-100944, Article 100944

2023

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Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

Neuropediatrics, 2006-04, Vol.37 (2), p.95-98

2006

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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

Journal of neurology, 2016-08, Vol.263 (8), p.1552-1558

2016

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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.965-976

2017

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Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein

American journal of human genetics, 2002-06, Vol.70 (6), p.1589-1593

2002

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Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

JIMD Reports, Volume 27, 2016, Vol.27, p.11-15

2016

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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.819-831

2022

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Vision on gyrate atrophy: why treat the eye?

EMBO molecular medicine, 2024-01, Vol.16 (1), p.4-7

2024

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Peroxisomes, lipid metabolism and lipotoxicity

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

Diagnostic pitfall in antenatal manifestations of CPT II deficiency

MRI as diagnostic tool in early-onset peroxisomal disorders

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase

A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways

Metabolism of phytol to phytanic acid in the mouse, and the role of PPARα in its regulation

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome

Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein

Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Vision on gyrate atrophy: why treat the eye?

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