المؤلفون: Morad Khayat, Alessandra Torraco, M. Eileen McCormick, Klaas J. Wierenga, Holger Hengel, Rosalba Carrozzo, Stavit A. Shalev, Camilla Ceccatelli Berti, Muhammad Mahajnah, Paola Goffrini, Amit Kessel, Rajech Sharkia, Ronen Spiegel, Ludger Schöls, Andrea Klein, Abdussalam Azem, Barbara Plecko, Lucia Abela, Enrico Bertini

المصدر: Journal of inherited metabolic disease 42(2), 264-275 (2019). doi:10.1002/jimd.12022

مصطلحات موضوعية: Male, Retinal degeneration, Microcephaly, Pathology, Internationality, Compound heterozygosity, genetics [Optic Atrophy], Cerebellum, pathology [Cerebellum], genetics [Exome], Missense mutation, Exome, 610 Medicine & health, Child, Genetics (clinical), Aconitate Hydratase, 0303 health sciences, Homozygote, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, ACO2, Syndrome, genetics [Ataxia], Magnetic Resonance Imaging, genetics [Retinal Dystrophies], Child, Preschool, Female, diagnosis [Retinal Dystrophies], medicine.medical_specialty, Adolescent, genetics [Aconitate Hydratase], Citric Acid Cycle, diagnosis [Neurodegenerative Diseases], Mutation, Missense, Aconitase, Young Adult, 03 medical and health sciences, Atrophy, genetics [Microcephaly], Retinal Dystrophies, Genetics, medicine, Humans, ddc:610, 030304 developmental biology, business.industry, diagnosis [Optic Atrophy], medicine.disease, Optic Atrophy, genetics [Neurodegenerative Diseases], deficiency [Aconitate Hydratase], Ataxia, business, Truncal ataxia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10635375098a53dd82a5972086f8668Test
https://doi.org/10.1002/jimd.12022Test

المؤلفون: Dana Dayan, Dajana Grossmann, Jill Bohler, Simone Schimpf-Linzenbold, Sylvie Delcambre, Bernd Wissinger, Rejko Krüger, François Massart, Anne Grünewald, Amit Kessel, Katarina Stingl, Jenny Ghelfi, Ludger Schöls, Reut Ben-Menachem, Abdussalam Azem, Tim M. Strom, Ophry Pines, Marie Anne-Catherine Neumann

المصدر: Scientific reports 10(1), 16736 (2020). doi:10.1038/s41598-020-73557-4
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Sci. Rep. 10:16736 (2020)
Scientific Reports
info:eu-repo/grantAgreement/EC/H2020/692320

مصطلحات موضوعية: 0301 basic medicine, Male, pathology [Optic Atrophy], lcsh:Medicine, Haploinsufficiency, Biochemistry, biophysics & molecular biology [F05] [Life sciences], medicine.disease_cause, pathology [Mitochondria], genetics [Optic Atrophy], 0302 clinical medicine, metabolism [Aconitate Hydratase], Exome, Biochimie, biophysique & biologie moléculaire [F05] [Sciences du vivant], lcsh:Science, Sequence Deletion, Aconitate Hydratase, Multidisciplinary, ACO2, Hypotonia, Mitochondria, Neurology, Cerebellar atrophy, Female, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Mitochondrial DNA, Programmed cell death, genetics [Aconitate Hydratase], Biology, DNA, Mitochondrial, Article, 03 medical and health sciences, Atrophy, Genetics, medicine, Humans, lcsh:R, Optic Nerve, Fibroblasts, medicine.disease, metabolism [Mitochondria], Molecular biology, Optic Atrophy, 030104 developmental biology, metabolism [Optic Atrophy], lcsh:Q, genetics [Mitochondria], pathology [Optic Nerve], ddc:600, 030217 neurology & neurosurgery, Oxidative stress, Neuroscience, metabolism [Optic Nerve]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac65a56ebb9891b00c0f4e96fae0214Test

المؤلفون: Volker F. Wendisch, Andreas Krug, Michael Bott

المصدر: The journal of biological chemistry 585-595 (2005). doi:10.1074/jbc.M408271200

مصطلحات موضوعية: Transcriptional Activation, acetate metabolism, metabolism [Bacterial Proteins], genetics [Aconitate Hydratase], Molecular Sequence Data, Repressor, binding protein, posttranscriptional regulation, Biology, Biochemistry, Aconitase, nucleotide-sequence, Corynebacterium glutamicum, chemistry.chemical_compound, Species Specificity, Bacterial Proteins, ddc:570, RNA polymerase, Genes, Regulator, Transcriptional regulation, molecular analysis, TetR, Amino Acid Sequence, Molecular Biology, Gene, metabolism [Repressor Proteins], DNA microarray analyses, Aconitate Hydratase, enzymology [Corynebacterium glutamicum], respiratory-chain, genetics [Corynebacterium glutamicum], antagonists & inhibitors [Aconitate Hydratase], Gene Expression Regulation, Bacterial, Cell Biology, gel-electrophoresis, Molecular biology, Repressor Proteins, Citric acid cycle, genetics [Repressor Proteins], escherichia-coli aconitases, chemistry, Genes, Bacterial, bacillus-subtilis aconitase, Sequence Alignment, genetics [Bacterial Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826b681b2a8d90478580768226c7a189Test
https://doi.org/10.1074/jbc.m408271200Test

المؤلفون: Andreas Krug, Michael Bott, Meike Baumgart, Nurije Mustafi

المصدر: Journal of bacteriology 193, 6864-6873 (2011). doi:10.1128/JB.05465-11

مصطلحات موضوعية: metabolism [Bacterial Proteins], genetics [Aconitate Hydratase], Physiology and Metabolism, Mutant, Citrate (si)-Synthase, medicine.disease_cause, Microbiology, Aconitase, Corynebacterium glutamicum, Bacterial Proteins, ddc:570, medicine, Citrate synthase, Gene Silencing, Molecular Biology, Gene, genetics [Citrate (si)-Synthase], Aconitate Hydratase, Mutation, biology, enzymology [Corynebacterium glutamicum], Point mutation, genetics [Corynebacterium glutamicum], Gene Expression Regulation, Bacterial, Molecular biology, metabolism [Citrate (si)-Synthase], Biochemistry, biology.protein, Gene Deletion, genetics [Bacterial Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5d39cda0ace073e34fa0df5130402eTest
https://europepmc.org/articles/PMC3232852Test/

المؤلفون: Andreas Krug, Julia Wennerhold, Michael Bott

المصدر: The journal of biological chemistry 280, 40500-40508 (2005). doi:10.1074/jbc.M508693200

مصطلحات موضوعية: pharmacology [Bacterial Proteins], Operon, genetics [Aconitate Hydratase], Iron, Mutant, AraC Transcription Factor, DtxR protein, Corynebacterium diphtheriae, Repressor, drug effects [Gene Expression Regulation], Biology, Nitrate reductase, Biochemistry, Aconitase, Nonheme Iron Proteins, Corynebacterium glutamicum, analysis [RNA, Messenger], Bacterial Proteins, ddc:570, pharmacology [AraC Transcription Factor], pharmacology [DNA-Binding Proteins], metabolism [Aconitate Hydratase], Escherichia coli, RNA, Messenger, Promoter Regions, Genetic, Molecular Biology, Aconitate Hydratase, Binding Sites, enzymology [Corynebacterium glutamicum], Wild type, Cell Biology, genetics [Catalase], DNA, genetics [AraC Transcription Factor], Catalase, Molecular biology, pharmacology [Iron], Recombinant Proteins, DNA-Binding Proteins, Gene Expression Regulation, Dehydratase, genetics [Promoter Regions, Genetic], chemistry [Corynebacterium glutamicum], Mutation, metabolism [DNA], genetics [Nonheme Iron Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb629e479dd2cb71f77fd64d6582286Test
https://juser.fz-juelich.de/record/48587Test