المؤلفون: Katharina Herzog, Lodewijk IJlst, Arno G. van Cruchten, Carlo W.T. van Roermund, Wim Kulik, Ronald J. A. Wanders, Hans R. Waterham

المصدر: Metabolites; Volume 9; Issue 3; Pages: 45

مصطلحات موضوعية: oxidative stress, glutathione, cultured cells, yeast, mass spectrometry

وصف الملف: application/pdf

Relation: Metabolomic Profiling Technology; https://dx.doi.org/10.3390/metabo9030045

الاتاحة: https://doi.org/10.3390/metabo9030045

المؤلفون: Marcelo Correia, Ana Rita Ferreira, Valdemar Máximo, Isabel Valença, Daniela Ribeiro, Hans R. Waterham, Carlo W.T. van Roermund, Markus Islinger, Sandra Kühl

المساهمون: Instituto de Investigação e Inovação em Saúde, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Cancers
Volume 12
Issue 11
Cancers, 12(11):3152, 1-15. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers, Vol 12, Iss 3152, p 3152 (2020)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, MCT2, lcsh:RC254-282, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Peroxisomes, Beta oxidation, Fatty acid synthesis, Monocarboxylate transporter, chemistry.chemical_classification, Prostate cancer, biology, Fatty acid, Lipid metabolism, Peroxisome, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Subcellular localization, Cell biology, 030104 developmental biology, Oncology, chemistry, 030220 oncology & carcinogenesis, Cancer cell, biology.protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7287445d88a6b39a86cdb08b5c81a53f
https://doi.org/10.3390/cancers12113152

المؤلفون: Eden Yifrach, Duncan Holbrook-Smith, Jérôme Bürgi, Alaa Othman, Miriam Eisenstein, Carlo W.T Van Roermund, Wouter Visser, Asa Tirosh, Chen Bibi, Shahar Galor, Uri Weil, Amir Fadel, Yoav Peleg, Hans R Waterham, Ronald J A Wanders, Matthias Wilmanns, Nicola Zamboni, Maya Schuldiner, Einat Zalckvar

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef40b286f58ee226045e293ed4a9cd4b
https://doi.org/10.1101/2021.12.08.471723

المؤلفون: Sacha Ferdinandusse, Simone Denis, Carlo W.T. van Roermund, Ronald J.A. Wanders, Georges Dacremont

المصدر: Journal of Lipid Research, Vol 45, Iss 6, Pp 1104-1111 (2004)

مصطلحات موضوعية: straight-chain acyl-CoA oxidase, l-bifunctional protein, d-bifunctional protein, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520318083; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/6919400862cf4d6aa6b5a2363584241b

المؤلفون: Alison Baker, Carlo W.T. van Roermund, Freddie L. Theodoulou, Lodewijk IJlst, Ronald J.A. Wanders, Hans R. Waterham

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory for General Clinical Chemistry, ARD - Amsterdam Reproduction and Development

المصدر: FEBS letters, 595(6), 763-772. Wiley-Blackwell

مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Subfamily, Coenzyme A, Saccharomyces cerevisiae, Biophysics, Biological Transport, Active, ATP-binding cassette transporter, coenzyme homeostasis, coenzyme A, Biochemistry, 03 medical and health sciences, Acyl-CoA, chemistry.chemical_compound, Thioesterase, Structural Biology, Peroxisomes, Genetics, peroxisome, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, 030302 biochemistry & molecular biology, Transporter, Cell Biology, acyl-CoA, Peroxisome, biology.organism_classification, chemistry, ATP-Binding Cassette Transporters, ABC transporter, Acyl Coenzyme A, thioesterase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712cf91c5d214011d9dfabeb98e56f0a

المؤلفون: Carlo W.T. van Roermund, Lodewijk IJlst, Hans R. Waterham, Ronald J.A. Wanders, Serhii Chornyi

المصدر: Front Cell Dev Biol
Frontiers in Cell and Developmental Biology, Vol 8 (2021)
Frontiers in Cell and Developmental Biology

مصطلحات موضوعية: biology, Chemistry, peroxisomes, membrane contact sites, cofactor, Review, Cell Biology, Peroxisome, exchanger, Peroxisomal transport, Membrane contact site, Cofactor, Transport protein, Cell and Developmental Biology, Metabolic pathway, carrier, lcsh:Biology (General), Cofactor transport, Biochemistry, transporter, biology.protein, NAD+ kinase, metabolism, lcsh:QH301-705.5, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d332a8709074c02855875d54738ba280

المؤلفون: Janet Koster, Merel S. Ebberink, Hans R. Waterham, Simone Denis, Carlo W.T. van Roermund, Ronald J.A. Wanders, Sacha Ferdinandusse, Mary Anne Preece

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Other departments, APH - Methodology

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1864(3), 952-958. Elsevier

مصطلحات موضوعية: 0301 basic medicine, Pristanic acid, Substrate Specificity, Bile Acids and Salts, 03 medical and health sciences, chemistry.chemical_compound, Consanguinity, Acyl-CoA oxidase, Humans, Pakistan, Molecular Biology, Oxidase test, Messenger RNA, Chemistry, Infant, Newborn, Metabolism, Peroxisome, 030104 developmental biology, Biochemistry, Liver, Molecular Medicine, ACOX1, Female, Acyl-CoA Oxidase, Oxidoreductases, ACOX3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca3b82bdcf5733c58f3e6606b7ebfa87
https://doi.org/10.1016/j.bbadis.2017.12.032

المؤلفون: Yiran Li, Vaishnavi Raja, Smiti V. Gupta, Pablo Lazcano, Amit S. Joshi, Miriam L. Greenberg, Michael W. Schmidtke, Michael Salsaa, Ronald J.A. Wanders, Nadia Saadat, Carlo W.T. van Roermund, Maik Hüttemann

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1864(8)

مصطلحات موضوعية: 0301 basic medicine, Mating type, Cell, Cell Biology, Yeast strain, Cell biology, Citric acid cycle, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, chemistry, Mole, medicine, Cardiolipin, Molecular Biology, 030217 neurology & neurosurgery, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb457987b296c9cc0605f5e543bda3ed
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85064994195&origin=inward

المؤلفون: David J. Carrier, Frederica L. Theodoulou, Ronald J.A. Wanders, Hans R. Waterham, Alison Baker, Carlo W.T. van Roermund, Theresia A. Schaedler, Hong Lin Rong, Lodewijk IJlst, Stephen A. Baldwin

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, APH - Methodology, Amsterdam Reproduction & Development (AR&D)

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific reports, 9(1):10502. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Protein Conformation, ATPase, Arabidopsis, Mutation, Missense, lcsh:Medicine, ATP-binding cassette transporter, Saccharomyces cerevisiae, Spodoptera, Article, Cell Line, 03 medical and health sciences, Structure-Activity Relationship, 0302 clinical medicine, Adenosine Triphosphate, Thioesterase, Catalytic Domain, Catalytic triad, Membrane proteins, Peroxisomes, Animals, Plant transporters, lcsh:Science, Adenosine Triphosphatases, Multidisciplinary, biology, Chemistry, Arabidopsis Proteins, lcsh:R, Mutagenesis, Walker motifs, Wild type, Recombinant Proteins, Transmembrane domain, 030104 developmental biology, Biochemistry, Enzyme mechanisms, biology.protein, Mutagenesis, Site-Directed, lcsh:Q, ATP-Binding Cassette Transporters, Thiolester Hydrolases, Fatty Acid Synthases, Hydrophobic and Hydrophilic Interactions, Oxidation-Reduction, 030217 neurology & neurosurgery, Oleic Acid, Protein Binding

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e806d60c455ee6ef0d26c3422c51b8
http://europepmc.org/articles/PMC6642094

المؤلفون: Sander M. Houten, Nihad Achetib, Myriam Baes, Tetyana Dodatko, Carmen Argmann, Sara Violante, Chunli Yu, Frédéric M. Vaz, Hongjie Chen, Carlo W.T. van Roermund, Jacob Hagen, Hans R. Waterham

مصطلحات موضوعية: 0301 basic medicine, Life Sciences & Biomedicine - Other Topics, PHYTANIC ACID, CARNITINE PALMITOYLTRANSFERASE, Palmitic Acid, ATP-binding cassette transporter, Mitochondrion, Biochemistry, PALMITOYLTRANSFERASE-II DEFICIENCY, MITOCHONDRIAL, Palmitic acid, Mice, chemistry.chemical_compound, 0302 clinical medicine, Peroxisomal Multifunctional Protein-2, Beta oxidation, fatty acid oxidation, Mice, Knockout, biology, Fatty Acids, Lauric Acids, Peroxisome, Recombinant Proteins, Mitochondria, mitochondria, MALONYL-COA, MOUSE-LIVER, BETA-OXIDATION, Oxidation-Reduction, Life Sciences & Biomedicine, Biotechnology, medicine.drug, organellar crosstalk, Biochemistry & Molecular Biology, Peroxisomal Bifunctional Enzyme, PRISTANIC ACID, acylcarnitine, 03 medical and health sciences, ABCD3, Carnitine, Peroxisomes, Genetics, medicine, Animals, Humans, ACETYL MOIETY, Molecular Biology, Biology, Science & Technology, MOLECULAR-CLONING, Carnitine O-Palmitoyltransferase, Research, Membrane Proteins, Cell Biology, Metabolic pathway, HEK293 Cells, 030104 developmental biology, chemistry, biology.protein, ATP-Binding Cassette Transporters, CPT2 deficiency, CRISPR-Cas Systems, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9257e5d9c1e5b6cd676d0b77300cc2a8
https://lirias.kuleuven.be/handle/123456789/640719

المؤلفون: Arno van Cruchten, L IJlst, Hans R. Waterham, Carlo W.T. van Roermund, Katharina Herzog, Ronald J.A. Wanders, Wim Kulik

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, APH - Methodology, ARD - Amsterdam Reproduction and Development

المصدر: Metabolites, Vol 9, Iss 3, p 45 (2019)
Metabolites
Metabolites, 9(3):45. Multidisciplinary Digital Publishing Institute

مصطلحات موضوعية: Antioxidant, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Cell, lcsh:QR1-502, yeast, medicine.disease_cause, 01 natural sciences, Biochemistry, High-performance liquid chromatography, lcsh:Microbiology, 03 medical and health sciences, chemistry.chemical_compound, medicine, Protocol, oxidative stress, glutathione, Molecular Biology, 030304 developmental biology, mass spectrometry, chemistry.chemical_classification, 0303 health sciences, Reactive oxygen species, Chemistry, 010401 analytical chemistry, cultured cells, Glutathione, Yeast, 0104 chemical sciences, 3. Good health, medicine.anatomical_structure, Ageing, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27e8865542eb75601c40bf93430c1fb9
http://www.mdpi.com/2218-1989/9/3/45

المؤلفون: Nicole Link, Carlo W.T. van Roermund, Hans R. Waterham, Lennart Charton, Martin G. Schroers, Jan Wiese, Fabio Facchinelli, Sabrina Wilkinson, Ronald Ja Wanders, Samantha Kurz, Andreas P.M. Weber

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Plant physiology, 171(3), 2127-2139. American Society of Plant Biologists

مصطلحات موضوعية: 0301 basic medicine, biology, Physiology, Coenzyme A, Saccharomyces cerevisiae, Plant Science, Peroxisome, biology.organism_classification, Peroxisomal transport, Cofactor, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, Glycerol-3-phosphate dehydrogenase, Biochemistry, chemistry, Arabidopsis, Genetics, biology.protein, NAD+ kinase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f276f8bae14cdce3f1712a0d70c0342b
https://doi.org/10.1104/pp.16.00540

المؤلفون: Julie Meurisse, Ramona Schuster, Chen Bibi, Lodewijk IJlst, Nadav Shai, Nir Cohen, Muriel Mari, Einat Zalckvar, Mafalda Escobar-Henriques, Hans R. Waterham, Adam Hughes, Laetitia Cavellini, Eden Yifrach, Mickael M. Cohen, Maya Schuldiner, Carlo W.T. van Roermund, Ronald J.A. Wanders, Lior Zada, Fulvio Reggiori

المساهمون: Weizmann Institute of Science [Rehovot, Israël], University of Amsterdam [Amsterdam] (UvA), Laboratoire de Biologie Moléculaire et Cellulaire des Eucaryotes (LBMCE), Institut de biologie physico-chimique (IBPC (FR_550)), Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Cologne, University Medical Center Groningen [Groningen] (UMCG), University of Utah School of Medicine [Salt Lake City], Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, APH - Methodology, Microbes in Health and Disease (MHD), Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9, pp.1761. ⟨10.1038/s41467-018-03957-8⟩
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature communications, 9(1):1761. Nature Publishing Group
Shai, N, Yifrach, E, van Roermund, C W T, Cohen, N, Bibi, C, IJlst, L, Cavellini, L, Meurisse, J, Schuster, R, Zada, L, Mari, M C, Reggiori, F M, Hughes, A L, Escobar-Henriques, M, Cohen, M M, Waterham, H R, Wanders, R J A, Schuldiner, M & Zalckvar, E 2018, ' Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact ', Nature Communications, vol. 9, no. 1, pp. 1761 . https://doi.org/10.1038/s41467-018-03957-8
Nature Communications, 9(1):1761. Nature Publishing Group

مصطلحات موضوعية: Intracellular Membranes/metabolism, 0301 basic medicine, Cytoplasm, General Physics and Astronomy, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Mitochondrion, GTP Phosphohydrolases, Peroxins, SACCHAROMYCES-CEREVISIAE, Bimolecular fluorescence complementation, PROTEIN-PROTEIN INTERACTIONS, Saccharomyces cerevisiae/metabolism, 0302 clinical medicine, FUSION, Protein Interaction Mapping, lcsh:Science, Multidisciplinary, Chemistry, Tethering, High-throughput screening, Peroxins/metabolism, Peroxisome, Saccharomyces cerevisiae Proteins/metabolism, Cytoplasm/metabolism, 3. Good health, Mitochondria, Systematic mapping, Protein Binding, Mitochondrial Proteins/metabolism, Saccharomyces cerevisiae Proteins, Science, MITOFUSIN, SIGNAL PEPTIDE PREDICTION, Saccharomyces cerevisiae, General Biochemistry, Genetics and Molecular Biology, Article, Protein–protein interaction, Mitochondrial Proteins, 03 medical and health sciences, Mitochondria/metabolism, Peroxisomes, YEAST LIBRARIES, Organelles, Binding Sites, BIMOLECULAR FLUORESCENCE COMPLEMENTATION, Peroxisomes/metabolism, Membrane Proteins, General Chemistry, Intracellular Membranes, COMBINED TRANSMEMBRANE TOPOLOGY, 030104 developmental biology, ER, PLASMA-MEMBRANE, Biophysics, Proximity detection, lcsh:Q, Membrane Proteins/metabolism, GTP Phosphohydrolases/metabolism, 030217 neurology & neurosurgery, Function (biology)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e072777b98620ce047b021657bd05d
https://doi.org/10.1038/s41467-018-03957-8

المؤلفون: Alison Baker, Hans R. Waterham, Theresia A. Schaedler, Carlo W.T. van Roermund, Frederica L. Theodoulou, David J. Carrier

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Biochemical Society Transactions
Biochemical Society transactions, 43(5), 959-965. Portland Press Ltd.

مصطلحات موضوعية: Models, Molecular, Subfamily, Saccharomyces cerevisiae Proteins, Protein Conformation, Saccharomyces cerevisiae, ATP-binding cassette transporter, Biology, Biochemistry, S2, ATP-binding cassette (ABC) transporter, Arabidopsis, Organelle, Coenzyme A Ligases, Peroxisomes, Humans, peroxisome, ATP binding cassette transporters: from mechanism to organism, Peroxisomal targeting signal, Arabidopsis Proteins, Fatty Acids, Transporter, Peroxisome, acyl-CoA, biology.organism_classification, β-oxidation, ATP-Binding Cassette Transporters, thioesterase, Biochemical Society Focused Meetings, Oxidation-Reduction, asymmetry

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc64e9364b9b758e8e5535719a270d9
http://europepmc.org/articles/PMC4652930

المؤلفون: Ewald H. Hettema, Lakhan Ekal, Ronald J.A. Wanders, Murtakab Y. Al-Hejjaj, Georgia E. Hulmes, Chantell Payton, Carlo W.T. van Roermund, Nadal Al-Saryi

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Paediatric Metabolic Diseases

المصدر: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific reports, 7(1). Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Saccharomyces cerevisiae Proteins, lcsh:Medicine, Dehydrogenase, Saccharomyces cerevisiae, Biology, Malate dehydrogenase, Article, 03 medical and health sciences, chemistry.chemical_compound, Malate Dehydrogenase, Peroxisomes, lcsh:Science, Saccharopine dehydrogenase activity, Glycerol-3-Phosphate Dehydrogenase (NAD+), Multidisciplinary, 030102 biochemistry & molecular biology, lcsh:R, C130 Cell Biology, Saccharopine dehydrogenase, Peroxisome, NAD, 030104 developmental biology, Glycerol-3-phosphate dehydrogenase, chemistry, Biochemistry, Saccharopine, lcsh:Q, NAD+ kinase, Oxidation-Reduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097efbb1211383028fdd2283e328eb3d
http://europepmc.org/articles/PMC5605654

المؤلفون: Ann B. Moser, Gerardo Jimenez-Sanchez, Wouter F. Visser, Ozlem Durmaz, David Valle, Mübeccel Demirkol, Simone Denis, Carlo W.T. van Roermund, Mine Gulluoglu, Ronald J.A. Wanders, Janet Koster, Hans R. Waterham, Sacha Ferdinandusse, Gülden Gökçay, Irma Silva-Zolezzi

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Human molecular genetics, 24(2), 361-370. Oxford University Press

مصطلحات موضوعية: Male, Pristanic acid, Phytanic acid, medicine.drug_class, Biology, Bile Acids and Salts, Mice, Phytol, chemistry.chemical_compound, ABCD3, Peroxisomes, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Mice, Knockout, chemistry.chemical_classification, Bile acid, Liver Diseases, Fatty Acids, General Medicine, Peroxisome, Amino acid, Transplantation, chemistry, Biochemistry, biology.protein, ATP-Binding Cassette Transporters, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5ff88b739874afecc37330deb6c7fd
https://doi.org/10.1093/hmg/ddu448

المؤلفون: Guillermina M. Mendiondo, Luke Ramsay, Michael J. Holdsworth, Jean Devonshire, Robbie Waugh, Hans R. Waterham, Jose Fernandez, Xuebin Zhang, Duncan Scholefield, Frederica L. Theodoulou, Barry Axcell, Carlo W.T. van Roermund, Anne Medhurst

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Journal of Experimental Botany
Journal of experimental botany, 65(17), 4833-4847. Oxford University Press

مصطلحات موضوعية: Physiology, Aleurone, Saccharomyces cerevisiae, Mutant, oil body, seed size, Arabidopsis, ATP-binding cassette transporter, Plant Science, chemistry.chemical_compound, Biosynthesis, Peroxisomes, Jasmonate, Organisms, Genetically Modified, biology, Arabidopsis Proteins, fungi, gene duplication, food and beverages, Hordeum, Peroxisome, Plants, Genetically Modified, biology.organism_classification, indole butyric acid, germination, Biochemistry, chemistry, ATP-Binding Cassette Transporters, RNA Interference, Oxidation-Reduction, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab6171c8daf62e3c4021ca99c33d912
https://doi.org/10.1093/jxb/eru243

المؤلفون: Ronald J.A. Wanders, Lodewijk IJlst, Tom Wagemans, Carlo W.T. van Roermund, Hans R. Waterham

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 1841(4), 563-568. Elsevier

مصطلحات موضوعية: ATP-binding cassette transporter, Saccharomyces cerevisiae, Biology, ATP Binding Cassette Transporter, Subfamily D, ATP Binding Cassette Transporter, Subfamily D, Member 1, Substrate Specificity, chemistry.chemical_compound, Peroxisomes, Humans, Dicarboxylic Acids, Molecular Biology, Beta oxidation, chemistry.chemical_classification, Fatty Acids, Fatty acid, Cell Biology, Peroxisome, Lipid Metabolism, Oleic acid, Dicarboxylic acid, chemistry, Biochemistry, Free fatty acid receptor, ATP-Binding Cassette Transporters, Oxidation-Reduction, Polyunsaturated fatty acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26f0c7ae81bd5418f30117634c69c66
https://doi.org/10.1016/j.bbalip.2013.12.001

المؤلفون: Jacek Majewski, Nanda M. Verhoeven-Duif, Wyeth W. Wasserman, Ido P. Kema, Yoko Ito, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, Megan T. Cho, Izabella A. Pena, Tuan Bui, Clara D.M. van Karnebeek, Scott Demarest, Ron A. Wevers, Amna Al Futaisi, Matthew A. Lines, Colin J. D. Ross, Ronald J.A. Wanders, Sander M. Houten, M. Rebecca Heiner-Fokkema, Sara Violante, Nicole I. Wolf, Jan M. Friedman, Heather E. Olson, Kevin Ban, Hilal H. Al-Shekaili, Autumn S Ivy, David A. Koolen, Judith J.M. Jans, Elise Brimble, Kristin D. Kernohan, Erik-Jan Kamsteeg, Carlo W.T. van Roermund, Skye McBride, Kym M. Boycott, Devon L. Johnstone, Sandra Noble, Rana Abdelrahim, Yann Roussel, Roshan Koul, Britt I. Drögemöller, Nathalie Lepage, Maartje Boon, Marjolein Bosma, Amber Begtrup, Khalid Al-Thihli, Jolita Ciapaite, Ceres Kosuta, Maja Tarailo-Graovac, Martijn van Faassen, Charlotte A. Haaxma, Marc Ekker, David A. Dyment

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Lifestyle Medicine (LM)

المصدر: Brain, 142, 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559

مصطلحات موضوعية: Male, 0301 basic medicine, PLPBP, Encephalopathy, Disease, Status epilepticus, Mitochondrion, Biology, Bioinformatics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], PROSC, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Journal Article, Animals, Humans, Zebrafish, Loss function, pyridoxine, Proteins, Original Articles, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, biology.organism_classification, Phenotype, Vitamin B 6, 3. Good health, Disease Models, Animal, HEK293 Cells, 030104 developmental biology, vitamin B6-responsive epilepsy, Pyridoxal Phosphate, epilepsy, Female, Neurology (clinical), medicine.symptom, Vitamin B 6 Deficiency, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1e89237bed452c221234d6971486ad
https://hdl.handle.net/1874/378867

المؤلفون: Adeline Vanderver, Richard Jones, Janet Koster, Kim D. Falkenberg, Michael Schrader, Ronald J.A. Wanders, Carlo W.T. van Roermund, Hans R. Waterham, Petra A. W. Mooyer, Sacha Ferdinandusse, Amy Pizzino

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Graduate School

المصدر: Journal of medical genetics, 54(5), 330-337. BMJ Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Ataxia, DNA, Complementary, Very long chain fatty acid, Cell, Biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Peroxisomal disorder, Genetics, medicine, Autophagy, Peroxisomes, Humans, Genetics (clinical), Adaptor Proteins, Signal Transducing, Skin, Fatty Acids, Genetic Complementation Test, Infant, Membrane Proteins, Peroxisome, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Cytosol, 030104 developmental biology, medicine.anatomical_structure, chemistry, Biochemistry, Child, Preschool, Female, Acyl Coenzyme A, medicine.symptom, 030217 neurology & neurosurgery, Intracellular, Binding domain, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e1bbbac070a39c3e45db355c6070a6
https://pure.amc.nl/en/publications/acbd5-deficiency-causes-a-defect-in-peroxisomal-very-longchain-fatty-acid-metabolism(38be9095-32c9-4909-9242-79c7d6390689).html