المؤلفون: Amelie S. Lotz-Havla, Mathias Woidy, Philipp Guder, Jessica Schmiesing, Ralf Erdmann, Hans R. Waterham, Ania C. Muntau, Søren W. Gersting

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: network medicine, edgetic perturbations, PEX26, BRET, peroxisome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.726174/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1d918e65f1b043d5b0911c91c23a0f2f

المؤلفون: Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke

المصدر: Cell Reports, Vol 24, Iss 11, Pp 2946-2956 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124718312683; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/b3476a6f49174f2f967f25a8a25f0543

المؤلفون: Jessica Schmiesing, Hartmut Schlüter, Kurt Ullrich, Thomas Braulke, Chris Mühlhausen

المصدر: PLoS ONE, Vol 9, Iss 2, p e87715 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3912011?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/01dca39dbad44c5dbf3c64e0c76b6761

المؤلفون: Bianca Dimitrov, Monique Williams, Femke Molema, Anke Schumann, Jessica Schmiesing, Stefan Kölker, Matthias R. Baumgartner, Chris Mühlhausen

المساهمون: University of Zurich, Kölker, Stefan, Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 44(1), 9-21. Springer Netherlands

مصطلحات موضوعية: 2716 Genetics (clinical), 610 Medicine & health, Glutaric aciduria type 1, Mitochondrion, Bioinformatics, Neonatal Screening, 1311 Genetics, Intensive care, Genetics, medicine, Animals, Humans, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Newborn screening, business.industry, Mechanism (biology), Organ dysfunction, Autophagy, Infant, Newborn, Brain, Brain Diseases, Metabolic, Inborn, medicine.disease, Methylmalonic aciduria, 10036 Medical Clinic, medicine.symptom, business, Energy Metabolism, Methylmalonic Acid

وصف الملف: ZORA195364.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7046ed8623825145714fddb54ff17b79
http://www.scopus.com/inward/record.url?scp=85085468356&partnerID=8YFLogxK

المؤلفون: Gabor A, Dunay, Madalena, Barroso, Mathias, Woidy, Marta K, Danecka, Geraldine, Engels, Katharina, Hermann, Friederike S, Neumann, Kevin, Paul, Jan, Beime, Gabriele, Escherich, Kristin, Fehse, Lev, Grinstein, Franziska, Haniel, Luka J, Haupt, Laura, Hecher, Torben, Kehl, Christoph, Kemen, Markus J, Kemper, Robin, Kobbe, Aloisa, Kohl, Thomas, Klokow, Dominik, Nörz, Jakob, Olfe, Friderike, Schlenker, Jessica, Schmiesing, Johanna, Schrum, Freya, Sibbertsen, Philippe, Stock, Stephan, Tiede, Eik, Vettorazzi, Dimitra E, Zazara, Antonia, Zapf, Marc, Lütgehetmann, Jun, Oh, Thomas S, Mir, Ania C, Muntau, Søren W, Gersting, Christian, Drosten

المصدر: Journal of clinical immunology.

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061bb78fbed3aac81928fd00d28748ee
https://pubmed.ncbi.nlm.nih.gov/36121535

المؤلفون: Amelie S. Lotz-Havla (2141563), Mathias Woidy (2141566), Philipp Guder (10828189), Jessica Schmiesing (518764), Ralf Erdmann (170790), Hans R. Waterham (9554777), Ania C. Muntau (549316), Søren W. Gersting (549315)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, network medicine, edgetic perturbations, PEX26, BRET, peroxisome

Relation: https://figshare.com/articles/dataset/DataSheet1_Edgetic_Perturbations_Contribute_to_Phenotypic_Variability_in_PEX26_Deficiency_pdf/16927825

الاتاحة: https://doi.org/10.3389/fgene.2021.726174.s001

المؤلفون: Hong-Phuc, Cudré-Cung, Noémie, Remacle, Sonia, do Vale-Pereira, Mary, Gonzalez, Hugues, Henry, Julijana, Ivanisevic, Jessica, Schmiesing, Chris, Mühlhausen, Olivier, Braissant, Diana, Ballhausen

المصدر: Molecular genetics and metabolism. 126(4)

مصطلحات موضوعية: Mice, Knockout, Glutaryl-CoA Dehydrogenase, Tissue Scaffolds, Brain Diseases, Metabolic, Lysine, Cell Culture Techniques, Brain, Culture Media, Mice, Inbred C57BL, Mice, Ammonium Compounds, Animals, Chemokines, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::509b461b5f69a402488c69cafec7a481
https://pubmed.ncbi.nlm.nih.gov/30686684

المؤلفون: Marc Sylvester, Jessica Schmiesing, Abdul Waheed, Friedrich Koch-Nolte, William S. Sly, Volkmar Gieselmann, Michaela Schweizer, Stephan Storch, Georgia Makrypidi-Fraune, Chris Mühlhausen, Catherine Meyer-Schwesinger, Thomas Braulke, Ann-Cathrin Dörfler, Melanie Thelen, Henning Tidow

المصدر: Cell Reports, Vol 24, Iss 11, Pp 2946-2956 (2018)

مصطلحات موضوعية: 0301 basic medicine, Lysine, Dehydrogenase, Glutaryl-CoA dehydrogenase, Mitochondrion, General Biochemistry, Genetics and Molecular Biology, Protein–protein interaction, Mitochondrial Proteins, 03 medical and health sciences, Mice, 0302 clinical medicine, Carbonic anhydrase, Animals, lcsh:QH301-705.5, Amino Acid Metabolism, Inborn Errors, Mice, Knockout, biology, Glutaryl-CoA Dehydrogenase, Catabolism, Chemistry, Brain Diseases, Metabolic, Glutamate dehydrogenase, Brain, Cell biology, Mitochondria, Microscopy, Electron, 030104 developmental biology, lcsh:Biology (General), biology.protein, Acyl Coenzyme A, Protein Processing, Post-Translational, 030217 neurology & neurosurgery, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ac23e9823c88b72458bb461f2aefec
https://pubmed.ncbi.nlm.nih.gov/30208319

المؤلفون: Jennifer Ro, Michael J. Muehlbauer, Scott D. Pletcher, Minjia Tan, Chao Peng, Lunzhi Dai, Donald S. Backos, Yue Chen, Thomas Braulke, Andreas Stahl Madsen, Chris Mühlhausen, Brett S. Peterson, Yi Zhang, Guofeng Xu, Matthew D. Hirschey, Gregory R. Wagner, Michelle F. Green, Christian A. Olsen, Jessica Schmiesing, Peter Chhoy, Kristin A. Anderson, Yingming Zhao, Olga Ilkayeva, David B. Lombard, Peter J. McGuire, He Huang, Jeongsoon Park, Zhongyu Xie

المصدر: Cell metabolism. 19(4)

مصطلحات موضوعية: Proteomics, SIRT5, Physiology, Lysine, Immunoblotting, Carbamoyl-Phosphate Synthase (Ammonia), Biology, Glutaric acid, Models, Biological, Mass Spectrometry, Article, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Animals, Sirtuins, Molecular Biology, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Molecular Structure, Cell Biology, Molecular biology, Enzyme, chemistry, Biochemistry, 030220 oncology & carcinogenesis, Urea cycle, Sirtuin, biology.protein, Posttranslational modification, Acyl Coenzyme A, Protein Processing, Post-Translational

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18783ae374ee117a52564cbe34b0a229
https://pubmed.ncbi.nlm.nih.gov/24703693

المؤلفون: Thomas Braulke, Chris Mühlhausen, Jessica Schmiesing, Henning Tidow, Benjamin Lohmöller, Søren W. Gersting, Ania C. Muntau, Michaela Schweizer

المصدر: Human Molecular Genetics. :ddw411

مصطلحات موضوعية: 0301 basic medicine, Protein Conformation, Mutation, Missense, Glutaryl-CoA dehydrogenase, Mitochondrion, Biology, medicine.disease_cause, Mitochondrial Dynamics, Gene Expression Regulation, Enzymologic, 03 medical and health sciences, 0302 clinical medicine, Enzyme Stability, Genetics, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Genetics (clinical), chemistry.chemical_classification, Alanine, Mutation, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, General Medicine, Molecular biology, Mitochondria, Amino acid, 030104 developmental biology, Amino Acid Substitution, chemistry, mitochondrial fusion, Biochemistry, Mitochondrial matrix, Protein Multimerization, Leucine, 030217 neurology & neurosurgery, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c66fca9dc19425e8ffeab034e3eef5
https://doi.org/10.1093/hmg/ddw411