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Genetics and molecular basis of human peroxisome biogenesis disorders

Biochimica et biophysica acta, 2012-09, Vol.1822 (9), p.1430-1441

2012

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Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

Frontiers in immunology, 2021-09, Vol.12, p.724991-724991

2021

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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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Biochemistry of mammalian peroxisomes revisited

Annual review of biochemistry, 2006-01, Vol.75 (1), p.295-332

2006

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The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis

Journal of lipid research, 2023-05, Vol.64 (5), p.100364-100364, Article 100364

2023

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Peroxisomal ABC transporters: functions and mechanism

Biochemical Society transactions, 2015-10, Vol.43 (5), p.959

2015

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Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Frontiers in cell and developmental biology, 2016-01, Vol.3, p.83-83

2016

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Peroxisomes can oxidize medium‐ and long‐chain fatty acids through a pathway involving ABCD3 and HSD17B4

The FASEB journal, 2019-03, Vol.33 (3), p.4355-4364

2019

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Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype

Frontiers in immunology, 2024, Vol.15, p.1379220-1379220

2024

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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Hepatology (Baltimore, Md.), 2015-01, Vol.61 (1), p.260-267

2015

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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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Peroxisomal disorders: The single peroxisomal enzyme deficiencies

Biochimica et biophysica acta, 2006-12, Vol.1763 (12), p.1707-1720

2006

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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Human molecular genetics, 2015-01, Vol.24 (2), p.361-370

2015

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A Lethal Defect of Mitochondrial and Peroxisomal Fission

The New England journal of medicine, 2007-04, Vol.356 (17), p.1736-1741

2007

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1021-1038

2021

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The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey

PloS one, 2013-02, Vol.8 (2), p.e57395-e57395

2013

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A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids

Biochimica et biophysica acta, 2014-04, Vol.1841 (4), p.563-568

2014

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Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.273-285

2023

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Mutational spectrum of Smith-Lemli-Opitz syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-11, Vol.160C (4), p.263-284

2012

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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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Functions and biosynthesis of plasmalogens in health and disease

BBA - Molecular and Cell Biology of Lipids, 2004-03, Vol.1636 (2), p.219-231

2004

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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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Reduced muscle strength in ether lipid‐deficient mice is accompanied by altered development and function of the neuromuscular junction

Journal of neurochemistry, 2017-12, Vol.143 (5), p.569-583

2017

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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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Genetics and molecular basis of human peroxisome biogenesis disorders

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

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

Biochemistry of mammalian peroxisomes revisited

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis

Peroxisomal ABC transporters: functions and mechanism

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Peroxisomes can oxidize medium‐ and long‐chain fatty acids through a pathway involving ABCD3 and HSD17B4

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

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

Peroxisomal disorders: The single peroxisomal enzyme deficiencies

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids

Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Mutational spectrum of Smith-Lemli-Opitz syndrome

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

Functions and biosynthesis of plasmalogens in health and disease

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

Reduced muscle strength in ether lipid‐deficient mice is accompanied by altered development and function of the neuromuscular junction

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

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