المؤلفون: Kara R. Vogel, Garrett R. Ainslie, Brian Phillips, Erland Arning, Teodoro Bottiglieri, Danny D. Shen, K. Michael Gibson

المصدر: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 80-87 (2015)

مصطلحات موضوعية: Phenylketonuria, Large neutral amino acids, Phenylalanine, LAT-1 transporter, Aminoisobutyric acid, Methylaminoisobutyric acid, Pharmacokinetics, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300021; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/2fea2a9538be48c7add04a8da12ef8c3

المؤلفون: Ronak Lakhani, Kara R Vogel, Andreas Till, Jingjing Liu, Sarah F Burnett, K Michael Gibson, Suresh Subramani

المصدر: EMBO Molecular Medicine, Vol 6, Iss 4, Pp 551-566 (2014)

مصطلحات موضوعية: autophagy, GABA, mTOR, rapamycin, SSADH deficiency, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/9bc787eb979e42b383255daf169c9e72

المؤلفون: Chelsea L Mitchell, Catrina E Latuszek, Kara R Vogel, Ian M Greenlund, Rebecca E Hobmeier, Olivia K Ingram, Shannon R Dufek, Jared L Pecore, Felicia R Nip, Zachary J Johnson, Xiaohui Ji, Hairong Wei, Oliver Gailing, Thomas Werner

المصدر: PLoS ONE, Vol 12, Iss 2, p e0173162 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5328632?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d01af1bdd14c416da12b7d6f21ca3393

المؤلفون: Kara R Vogel, Garrett R Ainslie, Erwin E Jansen, Gajja S Salomons, Jean-Baptiste Roullet, K Michael Gibson

المصدر: PLoS ONE, Vol 12, Iss 10, p e0186919 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5650182?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/18afb8dafe4843518b2deb6208f3428f

المؤلفون: Chelsea L Mitchell, Roger D Yeager, Zachary J Johnson, Stephanie E D'Annunzio, Kara R Vogel, Thomas Werner

المصدر: PLoS ONE, Vol 10, Iss 5, p e0127569 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4433104?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f734408f78bc40c5a86c8de1e9281186

المؤلفون: Kara R. Vogel

مصطلحات موضوعية: chemistry.chemical_classification, Biochemistry, chemistry, Biology, Amino acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d47b81203e47cdef019948bad9cbfd39
https://doi.org/10.37099/mtu.dc.etds/193

المؤلفون: Jeremy Williams, Bikash R. Pattnaik, Erwin E.W. Jansen, K. Michael Gibson, Julie A. Kiland, James N. Ver Hoeve, Kara R. Vogel, Brad Wahlgren, Gajja S. Salomons, Gillian J. McLellan, Shawna Gloe, Jean Baptiste Roullet, Brenna Wetherbee, Kore Chan, Dana C. Walters, Mrinalini Hoon

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Clinical chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: Investigative Ophthalmology & Visual Science
Chan, K, Hoon, M, Pattnaik, B R, Ver Hoeve, J N, Wahlgren, B, Gloe, S, Williams, J, Wetherbee, B, Kiland, J A, Vogel, K R, Jansen, E, Salomons, G, Walters, D, Roullet, J B, Gibson, K M & McLellan, G J 2020, ' Vigabatrin-induced retinal functional alterations and second-order neuron plasticity in C57BL/6J mice ', Investigative Ophthalmology and Visual Science, vol. 61, no. 2, 17 . https://doi.org/10.1167/iovs.61.2.17
Investigative ophthalmology & visual science, 61(2):17. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 61(2):17

مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, GABA Agents, Vigabatrin, Retina, 03 medical and health sciences, chemistry.chemical_compound, GABA transaminase, GABA, Random Allocation, 0302 clinical medicine, Retinal Diseases, Ophthalmology, medicine, Animals, Retinal thinning, mouse, Neuronal Plasticity, medicine.diagnostic_test, Chemistry, Retinal, eye diseases, Mice, Inbred C57BL, medicine.anatomical_structure, Oculomotor Muscles, 030221 ophthalmology & optometry, Optomotor response, Anticonvulsants, sense organs, Visual Fields, Erg, 030217 neurology & neurosurgery, Tomography, Optical Coherence, medicine.drug, Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb09d6c2a609256061fb1ebdb99748dc
http://europepmc.org/articles/PMC7326505

المؤلفون: K. M. Gibson, Garrett R. Ainslie, Kara R. Vogel, Phillip L. Pearl

المصدر: Clinical Pharmacology & Therapeutics. 101:458-461

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, Vision Disorders, Pharmacology, Biology, Vigabatrin, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Autophagy, medicine, Humans, Pharmacology (medical), Adverse effect, gamma-Aminobutyric Acid, Mtor signaling, TOR Serine-Threonine Kinases, Infant, Newborn, Infant, medicine.disease, Ocular toxicity, 030104 developmental biology, Evoked Potentials, Visual, Anticonvulsants, Signal transduction, Spasms, Infantile, Adjuvant, 030217 neurology & neurosurgery, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b776a895609bd8a668d057be15a3d5
https://doi.org/10.1002/cpt.581

المؤلفون: K. M. Gibson, Gajja S. Salomons, Erwin E.W. Jansen, Kara R. Vogel, Garrett R. Ainslie

المساهمون: Laboratory Medicine, Amsterdam Reproduction & Development (AR&D), AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Biochimica et Biophysica Acta-Molecular Basis of Disease, 1863(1), 33-42. Elsevier
Vogel, K R, Ainslie, G R, Jansen, E E W, Salomons, G S & Gibson, K M 2017, ' Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism ', Biochimica et Biophysica Acta-Molecular Basis of Disease, vol. 1863, no. 1, pp. 33-42 . https://doi.org/10.1016/j.bbadis.2016.10.009

مصطلحات موضوعية: Male, 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Developmental Disabilities, Peroxiredoxin 1, medicine.disease_cause, Article, Succinic semialdehyde, Superoxide dismutase, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Naphthyridines, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Mechanistic target of rapamycin, gamma-Aminobutyric Acid, PI3K/AKT/mTOR pathway, biology, TOR Serine-Threonine Kinases, Glutathione, medicine.disease, Molecular biology, Mice, Inbred C57BL, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, chemistry, biology.protein, Molecular Medicine, Female, Succinate-Semialdehyde Dehydrogenase, Transcriptome, Gene Deletion, 030217 neurology & neurosurgery, Oxidative stress, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb21caaf75b341363543e3fe6ae920a3
http://www.scopus.com/inward/record.url?scp=84994323204&partnerID=8YFLogxK

المؤلفون: Jean Baptiste Roullet, Phillip L. Pearl, Erwin E.W. Jansen, Kara R. Vogel, K. M. Gibson, G. S. Salomons

المساهمون: Clinical chemistry, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Jansen, E E, Vogel, K R, Salomons, G S, Pearl, P L, Roullet, J B & Gibson, K M 2016, ' Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism ', Journal of Inherited Metabolic Disease, vol. 39, no. 6, pp. 795-800 . https://doi.org/10.1007/s10545-016-9980-7
Journal of Inherited Metabolic Disease, 39(6), 795-800. Springer Netherlands

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, medicine.medical_specialty, Adolescent, Developmental Disabilities, Hydroxybutyrates, Biology, Neurotransmission, Synaptic Transmission, Article, gamma-Aminobutyric acid, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Young adult, Child, Amino Acid Metabolism, Inborn Errors, gamma-Aminobutyric Acid, Genetics (clinical), medicine.disease, Succinate-semialdehyde dehydrogenase, 030104 developmental biology, Endocrinology, Child, Preschool, Biomarker (medicine), Female, Steady state (chemistry), Succinate-Semialdehyde Dehydrogenase, Biomarkers, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bfbea066d0335ac27f4205c9a1669b2
https://doi.org/10.1007/s10545-016-9980-7

المؤلفون: Garrett R. Ainslie, K. Michael Gibson, Kara R. Vogel

المصدر: Journal of Inherited Metabolic Disease. 39:877-886

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Transcription, Genetic, Developmental Disabilities, Morpholines, Glutamic Acid, Pharmacology, Synaptic Transmission, Article, gamma-Aminobutyric acid, Mice, 03 medical and health sciences, 0302 clinical medicine, Quinoxalines, Genetics, medicine, Animals, Amino Acid Metabolism, Inborn Errors, Mechanistic target of rapamycin, gamma-Aminobutyric Acid, Genetics (clinical), PI3K/AKT/mTOR pathway, Neurons, Sirolimus, Sulfonamides, biology, TOR Serine-Threonine Kinases, RPTOR, Glutamate receptor, medicine.disease, Disease Models, Animal, Pyrimidines, 030104 developmental biology, biology.protein, Premature Birth, GABAergic, Succinate-Semialdehyde Dehydrogenase, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3ad2ea0a452a0433b69b96a31ad0c1
https://doi.org/10.1007/s10545-016-9959-4

المؤلفون: Jean-Baptiste Roullet, K. Michael Gibson, Dana C. Walters, Madalyn Brown, Kara R. Vogel, Xutong Shi

المصدر: Epilepsy Res

مصطلحات موضوعية: Male, 0301 basic medicine, Nerve fiber layer, Pharmacology, Biology, Article, Retina, Vigabatrin, Transcriptome, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Gene expression, medicine, Animals, Visual Pathways, KEGG, Gene, Sequence Analysis, RNA, Gene Expression Profiling, Retinal, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Neurology, chemistry, Anticonvulsants, Neurology (clinical), Nerve Net, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c9e81a8a24c7a7bceef4692451dfe4
https://doi.org/10.1016/j.eplepsyres.2020.106395

المؤلفون: Kara R. Vogel, Garrett R. Ainslie, K. Michael Gibson, Anders B. Klein, Madalyn Brown, Petrine Wellendorph, Dana C. Walters, Jean-Baptiste Roullet, Michelle A. Schmidt

المصدر: The FASEB Journal. 32

مصطلحات موضوعية: Succinic semialdehyde dehydrogenase deficiency, Biochemistry, GABA metabolism, Chemistry, Genetics, medicine, medicine.disease, Molecular Biology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10048802d2c1cd4aab7ada562ae3252c
https://doi.org/10.1096/fasebj.2018.32.1_supplement.818.18

المؤلفون: Kara R. Vogel, Erwin E.W. Jansen, Gajja S. Salomons, K. M. Gibson, Garrett R. Ainslie

المساهمون: Laboratory Medicine, NCA - Brain mechanisms in health and disease

المصدر: Annals of Clinical and Translational Neurology, 2(6), 699-706. John Wiley and Sons Ltd
Vogel, K R, Ainslie, G R, Jansen, E E W, Salomons, G & Gibson, K M 2015, ' Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse ', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 699-706 . https://doi.org/10.1002/acn3.200
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0303 health sciences, Programmed cell death, biology, business.industry, General Neuroscience, Endogeny, Pharmacology, Vigabatrin, 03 medical and health sciences, 0302 clinical medicine, Apoptosis, Mitophagy, medicine, biology.protein, Phosphorylation, Neurology (clinical), Brief Communications, business, Mechanistic target of rapamycin, 030217 neurology & neurosurgery, PI3K/AKT/mTOR pathway, 030304 developmental biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce611db8366382a4a6d6ee564155ba24
https://doi.org/10.1002/acn3.200

المؤلفون: Sameer C. Dhamne, Jean Baptiste Roullet, Alexander Rotenberg, Garrett R. Ainslie, Dana C. Walters, K. Michael Gibson, Alice McConnell, Kara R. Vogel

المصدر: Journal of inherited metabolic disease. 41(4)

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Developmental Disabilities, Aldehyde dehydrogenase, Pharmacology, Article, GABA Antagonists, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Enzyme Replacement Therapy, Receptor, Mechanistic target of rapamycin, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), PI3K/AKT/mTOR pathway, Chloride channel activity, Mice, Knockout, biology, GABAA receptor, Chemistry, TOR Serine-Threonine Kinases, GHB receptor, medicine.disease, Benzocycloheptenes, Disease Models, Animal, 030104 developmental biology, biology.protein, Succinate-Semialdehyde Dehydrogenase, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346ce7ddc7a66701db14a4c9f8f296c8
https://pubmed.ncbi.nlm.nih.gov/29460030

المؤلفون: Alice McConnell, Garrett R. Ainslie, Jean Baptiste Roullet, K. M. Gibson, Kara R. Vogel

مصطلحات موضوعية: 0301 basic medicine, Genotype, Cell Survival, Developmental Disabilities, NCS-382, Aldehyde dehydrogenase, Receptors, Cell Surface, Pharmacology, Toxicology, Article, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Neural Stem Cells, In vivo, Superoxides, Animals, Humans, Amino Acid Metabolism, Inborn Errors, Mice, Knockout, Neurons, biology, Superoxide, In vitro toxicology, GHB receptor, Epithelial Cells, General Medicine, Ligand (biochemistry), In vitro, Mitochondria, Benzocycloheptenes, 030104 developmental biology, chemistry, Gene Expression Regulation, biology.protein, Anticonvulsants, Succinate-Semialdehyde Dehydrogenase, Reactive Oxygen Species, 030217 neurology & neurosurgery, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511f158015e5c46df121146c1a932dbb
https://europepmc.org/articles/PMC5842807/

المؤلفون: Kara R. Vogel, Cédric Wernli, S Finochiaro, Erwin E.W. Jansen, Gajja S. Salomons, Daniel Gygax, A Buettler, H Andresen-Streichert, C Volken, K. M. Gibson, Garrett R. Ainslie

المساهمون: Amsterdam Reproduction & Development (AR&D), Clinical chemistry, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Molecular Genetics and Metabolism Reports, 11, 81-89. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 81-89 (2017)
Wernli, C, Finochiaro, S, Volken, C, Andresen-Streichert, H, Buettler, A, Gygax, D, Salomons, G S, Jansen, E E, Ainslie, G R, Vogel, K R & Gibson, K M 2017, ' Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids ', Molecular Genetics and Metabolism Reports, vol. 11, pp. 81-89 . https://doi.org/10.1016/j.ymgmr.2016.07.009

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, LLOQ, lower limit of quantification, Dehydrogenase, Urine, SSADHD, succinic semialdehyde dehydrogenase deficiency, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, γ-Hydroxybutyric acid, Succinic semialdehyde dehydrogenase, GHB, gamma-hydroxybutyrate (also γ-hydroxybutyric acid), Genetics, medicine, Screening method, Targeted screening, Enzymatic enzyme assay, lcsh:QH301-705.5, Molecular Biology, NADH, nicotinamide adenine dinucleotide, reduced form, chemistry.chemical_classification, lcsh:R5-920, LOD, limit of detection, IDM, isotope dilution method, Chemistry, CV, coefficient of variation, r, correlation coefficient (Pearson), GHBDH, GHB-dehydrogenase, medicine.disease, 030104 developmental biology, Enzyme, lcsh:Biology (General), Biochemistry, GABA, gamma-aminobutyric acid, GC-FID, gas chromatography-flame ionization detector, Gas chromatography, GC–MS, gas chromatography–mass spectrometry, lcsh:Medicine (General), γ-hydroxybutyric acid, 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7662bbdaa84d7143e4ba5e37cd2ce36
https://research.vumc.nl/en/publications/a8a717c5-c7b0-4311-8689-d498c8971277

المؤلفون: K. Michael Gibson, Kara R. Vogel, John M. Schreiber, William H. Theodore, Mahsa Parviz, Phillip L. Pearl

المصدر: Developmental Medicine & Child Neurology. 57:611-617

مصطلحات موضوعية: Mutation, Autophagy, Biology, medicine.disease, medicine.disease_cause, Phenotype, Hypotonia, Epilepsy, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Genetic model, medicine, Neurology (clinical), medicine.symptom, Neuroscience, Gene, PI3K/AKT/mTOR pathway

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::25de50d1de829ad736c8d59496c13ddb
https://doi.org/10.1111/dmcn.12668

المؤلفون: Andrew A. Kennedy, Luke A. Whitehouse, K. Michael Gibson, Kara R. Vogel

المصدر: Journal of Inherited Metabolic Disease. 37:165-176

مصطلحات موضوعية: medicine.medical_specialty, Orthotopic liver transplantation, Liver Diseases, Transplants, Economic shortage, Biology, medicine.disease, Article, Organ transplantation, Liver disease, Hepatocyte transplantation, Metabolic Diseases, Immunology, Hepatocytes, Genetics, medicine, Animals, Humans, Stem cell, Inherited metabolic disease, Intensive care medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6456a42c5fc1236fc6099b09ad8ee16
https://doi.org/10.1007/s10545-013-9656-5

المؤلفون: Catrina E. Latuszek, Felicia R. Nip, Jared L. Pecore, Olivia K. Ingram, Kara R. Vogel, Xiaohui Ji, Oliver Gailing, Chelsea L. Mitchell, Thomas Werner, Shannon R. Dufek, Ian M. Greenlund, Hairong Wei, Rebecca E. Hobmeier, Zachary J. Johnson

المصدر: PLoS ONE, Vol 12, Iss 2, p e0173162 (2017)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Life Cycles, Drug Resistance, lcsh:Medicine, Genome-wide association study, Toxicology, Pathology and Laboratory Medicine, Larvae, Melanogaster, Medicine and Health Sciences, Toxins, Drosophila Proteins, lcsh:Science, Alpha-Amanitin, Oligonucleotide Array Sequence Analysis, Genetics, Regulation of gene expression, Multidisciplinary, Secretory Pathway, biology, Cell Death, Drosophila Melanogaster, TOR Serine-Threonine Kinases, Genomics, Animal Models, Phenotype, Endocytosis, Insects, Low Density Lipoprotein Receptor-Related Protein-2, Experimental Organism Systems, Cell Processes, Larva, Drosophila, Drosophila melanogaster, Detoxification, Research Article, animal structures, Arthropoda, Autophagic Cell Death, Toxic Agents, Taiwan, Research and Analysis Methods, Microbiology, 03 medical and health sciences, Model Organisms, Microbial Control, Genome-Wide Association Studies, Animals, Pesticides, Crosses, Genetic, Genetic Association Studies, Pharmacology, Gene Expression Profiling, Autophagy, fungi, lcsh:R, Organisms, Biology and Life Sciences, Computational Biology, Genetic Variation, Human Genetics, Cell Biology, biology.organism_classification, Genome Analysis, Invertebrates, Gene expression profiling, 030104 developmental biology, Gene Expression Regulation, RNA, lcsh:Q, Antimicrobial Resistance, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00fbf113db0ac27f1d188d2cc3844037
http://europepmc.org/articles/PMC5328632?pdf=render