-
1Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains
المؤلفون: Aaron Bender, Sander M. Houten, Chunli Yu, Tetyana Dodatko, Carmen Argmann, João Leandro
المصدر: Molecular genetics and metabolism. 132(2)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Metabolite, Mice, Inbred Strains, Glutaric aciduria type 1, Urine, 030105 genetics & heredity, Glutaric acid, Biology, Biochemistry, Excretion, Glutarates, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Transferases, Internal medicine, Genetics, medicine, Animals, Humans, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Kidney, Lysine, Glutaric aciduria, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, Phenotype, chemistry, Oxidoreductases, 030217 neurology & neurosurgery, Acyltransferases, Urine organic acids
-
2
المؤلفون: Michelle R. Arkin, João Leandro, Christopher G. Wilson, Sander M. Houten, Hui Wang, Michael B. Lazarus, Robert J. DeVita, Frank Jordan, Tetyana Dodatko, Brandon Stauffer, Roberto Sanchez, Natalia S. Nemeria, Chunli Yu, Chalada Suebsuwong, Susmita Khamrui, Moses Moustakim, Wang M, Cody Secor, Khoi Huynh
المصدر: ACS chemical biology, vol 15, iss 8
ACS Chem Biolمصطلحات موضوعية: 0301 basic medicine, Dimer, Lysine, Crystal structure, Crystallography, X-Ray, 01 natural sciences, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Charcot-Marie-Tooth Disease, 2.1 Biological and endogenous factors, Aetiology, chemistry.chemical_classification, 0303 health sciences, Crystallography, Molecular Structure, Chemistry, Circular Dichroism, General Medicine, Biological Sciences, Small molecule, 3. Good health, Molecular Medicine, High-throughput screening, Mutation, Missense, complex mixtures, Article, 2-oxoadipic aciduria, 03 medical and health sciences, Rare Diseases, Genetics, DHTKD1, Humans, Ketoglutarate Dehydrogenase Complex, Enzyme kinetics, 030304 developmental biology, Cofactor binding, 010405 organic chemistry, Catabolism, Organic Chemistry, Wild type, Tryptophan, Neurosciences, 0104 chemical sciences, 030104 developmental biology, Enzyme, Orphan Drug, Mutation, Chemical Sciences, X-Ray, bacteria, Dehydrogenase complex, Thiamine Pyrophosphate, Missense, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1ec499ee06b35d557c41e6c15f5e44
https://escholarship.org/uc/item/5dj5p5mg -
3
المؤلفون: Hélène C. F. Côté, Kathleen M. Powis, Elaine J. Abrams, Mitchell E. Geffner, Chunli Yu, Derek LeRoith, Rhoda S. Sperling, Jennifer Jao, Fanny Epie, Emmanuel Nshom, Brian Kirmse, Irwin J. Kurland
المصدر: AIDS. 31:2475-2481
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Nevirapine, Immunology, Physiology, HIV Infections, Biology, Mitochondrion, Real-Time Polymerase Chain Reaction, DNA, Mitochondrial, Article, 03 medical and health sciences, Zidovudine, Tandem Mass Spectrometry, Carnitine, medicine, Humans, Immunology and Allergy, Cameroon, Prospective cohort study, Confounding, Infant, 030112 virology, Mitochondria, Dried blood spot, 030104 developmental biology, Infectious Diseases, Real-time polymerase chain reaction, Anti-Retroviral Agents, Biochemistry, Energy Metabolism, Amino Acids, Branched-Chain, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16c888d49d7c9c53907deae8763a850f
https://doi.org/10.1097/qad.0000000000001647 -
4
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 -
5
المؤلفون: Evan G. Williams, Carmen Argmann, Sander M. Houten, Wei Zhang, Chunli Yu, Johan Auwerx, Alexis Maximilien Bachmann, João Leandro, Sara Violante, Aaron Bender, Jacob Hagen, Tetyana Dodatko
المصدر: Molecular genetics and metabolism. 126(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Mice, 129 Strain, Endocrinology, Diabetes and Metabolism, BCKDHB, Mice, Inbred Strains, 030105 genetics & heredity, Biology, Biochemistry, Article, 03 medical and health sciences, Exon, Mice, 0302 clinical medicine, Endocrinology, Genetics, DHTKD1, Animals, Metabolomics, Molecular Biology, Gene, Messenger RNA, Sequence Analysis, RNA, Intron, Ketone Oxidoreductases, Isovaleric Acidemia, Mice, Inbred C57BL, Phenotype, Mice, Inbred DBA, RNA splicing, DNA Transposable Elements, 030217 neurology & neurosurgery, Metabolism, Inborn Errors
-
6
المؤلفون: Lisa DiAntonio, Melissa P. Wasserstein, Xinying Hong, Sara Violante, Farideh Ghomashchi, Erin E. Hughes, Michele Caggana, Michael H. Gelb, Na Lin, Chunli Yu, Ruth Kornreich, Hui Zhou, Hsuan-Chieh Liao, Joseph J. Orsini, Arun Kumar, Jingyu Huang, Colleen F. Stevens
المصدر: Clinical chemistry. 63(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Lysis, Clinical Biochemistry, 030105 genetics & heredity, Tandem mass spectrometry, Article, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Liquid chromatography–mass spectrometry, Tandem Mass Spectrometry, Leukocytes, Acid α glucosidase, Humans, Child, Alleles, Newborn screening, Chromatography, biology, Chemistry, Glycogen Storage Disease Type II, Biochemistry (medical), Infant, Newborn, Treatment options, Infant, alpha-Glucosidases, Enzyme assay, Biochemistry, Child, Preschool, Pseudodeficiency alleles, biology.protein, 030217 neurology & neurosurgery, Chromatography, Liquid
-
7
المؤلفون: Colleen F. Stevens, Michele Caggana, Joseph J. Orsini, Beth Vogel, Lissette Estrella, Amy Yang, Natasha Zeid, Na Lin, Melissa P. Wasserstein, Chunli Yu, Sarah Bradley
المصدر: Molecular Genetics and Metabolism. 120:S142-S143
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Endocrinology, Genetics, medicine, Referral center, business, Molecular Biology, Uncertain significance