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Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Alison M. Motley
Ewald H. Hettema
Ben Distel
Research01 Apr 1997
Nature Genetics

Volume: 15, P: 377-380
β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria

Nikolaos Venizelos
Lodewijk Ijlst
Lars Hagenfeldt
Research01 Jul 1994
Pediatric Research

Volume: 36, P: 111-114
Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen
Rob Oftnan
Ronald J.A. Wanders
Research01 Oct 1997
Nature Genetics

Volume: 17, P: 190-193
Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

Francis Rocchicciolo
Ronald J A Wanders
Pierre-Francois Bougneres
Research01 Dec 1990
Pediatric Research

Volume: 28, P: 657-662
Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect

Henk D Bakker
Hans R Scholte
Albert H Van Gennip
Research01 Apr 1993
Pediatric Research

Volume: 33, P: 412-417
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

Avraham Zeharia
Merel S. Ebberink
Stanley H. Korman
Research30 May 2007
Journal of Human Genetics

Volume: 52, P: 599-606
PEROXISOMAL DYSFUNCTION IN A HETEROGENEOUS GROUP OF CHONDRODYSPLASIA PUNCTATA (CP) SYNDROMES

Ruud B H Schutgens
Ronald J A Wanders
Judith C Heikoop
Research01 Nov 1992
Pediatric Research

Volume: 32, P: 621
118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

Ruud B H Schutgens
Ronald J A Wanders
H Przyrembel
Research01 Aug 1988
Pediatric Research

Volume: 24, P: 280
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M Houten
Janet Koster
Hans R Waterham
Research20 Apr 2001
European Journal of Human Genetics

Volume: 9, P: 253-259
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Sacha Ferdinandusse
Simone Denis
Ronald J.A. Wanders
Research01 Feb 2000
Nature Genetics

Volume: 24, P: 188-191
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten
Wietse Kuis
Bwee Tien Poll-The
Research01 Jun 1999
Nature Genetics

Volume: 22, P: 175-177
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

Jeannette Gootjes
Frank Schmohl
Ronald J A Wanders
Research22 Oct 2003
European Journal of Human Genetics

Volume: 12, P: 115-120
Peroxisomes in human fibroblasts have a basic pH

Tobias B. Dansen
Karel W. A. Wirtz
Eward H. W. Pap
Research10 Dec 1999
Nature Cell Biology

Volume: 2, P: 51-53
Erratum: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

SanderM Houten
Janet Koster
Hans R Waterham
Amendments and Corrections30 Aug 2001
European Journal of Human Genetics

Volume: 9, P: 651
IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS

Ertan Mayatepek
Gabriele Jedlitschky
Dietrich Keppler
Research01 Nov 1992
Pediatric Research

Volume: 32, P: 627
Long-Chain Fatty Acid Oxidation during Early Human Development

Nadia A Oey
Margarethe E J den boer
Tania Attié-Bitach
Research01 Jun 2005
Pediatric Research

Volume: 57, P: 755-759
Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low

Margarethe E J Den Boer
Lodewijk Ijlst
Ronald J A Wanders
Research01 Aug 2000
Pediatric Research

Volume: 48, P: 151-154
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Celia Perez-Cerda
Judit García-Villoria
Antonia Ribes
Research01 Sept 2005
Pediatric Research

Volume: 58, P: 488-491
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

Sander M Houten
Christiaan S van Woerden
Hans R Waterham
Research14 Feb 2003
European Journal of Human Genetics

Volume: 11, P: 196-200
Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1

Atsushi Imamura
Nobuyuki Shimozawa
Naomi Kondo
Research01 Oct 2000
Pediatric Research

Volume: 48, P: 541-545
Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry

Cristiano Rizzo
Sara Boenzi
Carlo Dionisi-Vici
Research01 Jun 2003
Pediatric Research

Volume: 53, P: 1013-1018
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

Jeannette Gootjes
Orly Elpeleg
Ronald J A Wanders
Research01 Mar 2004
Pediatric Research

Volume: 55, P: 431-436
A happier sequel to Lorenzo's Oil?

Ronald J. A. Wanders
News & Views01 Nov 1998
Nature Medicine

Volume: 4, P: 1245-1246
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Tessa van Dijk
Sacha Ferdinandusse
Frank Baas
Research08 Aug 2018
European Journal of Human Genetics

Volume: 26, P: 1752-1758
Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice

Ute Spiekerkoetter
Chonan Tokunaga
Arnold W Strauss
Research01 Jun 2005
Pediatric Research

Volume: 57, P: 760-764
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

The internal organization of the cell has been enriched by the discovery that organelles establish membrane contact sites, however the entire repertoire of these contacts is still being explored. Here the authors systematically identify the landscape of cellular contact sites in yeast, discovering four potential novel contact sites and two tether proteins for the peroxisome-mitochondria contact site.

Nadav Shai
Eden Yifrach
Einat Zalckvar
ResearchOpen Access02 May 2018
Nature Communications

Volume: 9, P: 1-13
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Cardiomyocytes generated from induced pluripotent cells hold great promise for understanding and treating heart disease. William Pu and his colleagues apply new technologies for studying such cardiomyocytes from patients with Barth syndrome to explore how the mitochondrial defects characteristic of this syndrome lead to heart dysfunction.

Gang Wang
Megan L McCain
William T Pu
Research11 May 2014
Nature Medicine

Volume: 20, P: 616-623
PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869

Ruud B.H Schutqens
Ronald J.A Wanders
Research01 Apr 1996
Pediatric Research

Volume: 39, P: 147
Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

Patients with adrenoleukodystrophy have a complex, X-linked peroxisomal disease, which is characterized by the development of adrenal insufficiency, myelopathy and progressive cerebral white matter lesions. In this Review Stephan Kemp and colleagues discuss the clinical presentation, natural history, diagnosis and treatment of this disease.

Stephan Kemp
Irene C. Huffnagel
Marc Engelen
Reviews17 Jun 2016
Nature Reviews Endocrinology

Volume: 12, P: 606-615
Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders

Eberhard Schmidt-Sommerfeld
Paul J Bobrowski
Michael J Bennett
Research01 Aug 1998
Pediatric Research

Volume: 44, P: 210-214
Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

Johannes Zschocke
Jos P N Ruiter
Ertan Mayatepek
Research01 Dec 2000
Pediatric Research

Volume: 48, P: 852-855
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Johan L K Van Hove
Margarita S Saenz
Hans R Waterham
Research01 Aug 2010
Pediatric Research

Volume: 68, P: 159-164
Variations in IBD (ACAD8) in Children with Elevated C₄-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

Christina B Pedersen
Claus Bischoff
Brage S Andresen
Research01 Sept 2006
Pediatric Research

Volume: 60, P: 315-320
Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

Bianca T van Maldegem
Marinus Duran
Frits A Wijburg
Research01 Mar 2010
Pediatric Research

Volume: 67, P: 304-308
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Eugene F. Diekman
Sacha Ferdinandusse
Gepke Visser
Research02 Apr 2015
Genetics in Medicine

Volume: 17, P: 989-994
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Maaike Blankestijn
Vincent W. Bloks
Johan W. Jonker
ResearchOpen Access15 Feb 2022
Scientific Reports

Volume: 12, P: 1-13
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation

Ntsiki M. Held
Eline N. Kuipers
Riekelt H. Houtkooper
ResearchOpen Access22 Jun 2018
Scientific Reports

Volume: 8, P: 1-12
Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

David J. Carrier
Carlo W. T. van Roermund
Alison Baker
ResearchOpen Access19 Jul 2019
Scientific Reports

Volume: 9, P: 1-13
Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder

Kazuyuki Hashimoto
Zenichiro Kato
Naomi Kondo
Research01 Aug 2005
Pediatric Research

Volume: 58, P: 263-269
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Janina Hantke
David Chandler
Luba Kalaydjieva
Research17 Jun 2009
European Journal of Human Genetics

Volume: 17, P: 1606-1614
Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae

Nadal A. Al-Saryi
Murtakab Y Al-Hejjaj
Ewald H. Hettema
ResearchOpen Access19 Sept 2017
Scientific Reports

Volume: 7, P: 1-9
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467
Functional significance of the two ACOX1 isoforms and their crosstalks with PPARα and RXRα

Aurore Vluggens
Pierre Andreoletti
Mustapha Cherkaoui-Malki
Research01 Mar 2010
Laboratory Investigation

Volume: 90, P: 696-708

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