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: 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