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المؤلفون: Wyatt W. Yue, Julie Soblet, Serge Goldman, Guillaume Smits, Alec Aeby, Lionel Paternoster, Sandra Coppens, Xavier De Tiège, Catheline Vilain, Nicolas Deconinck
المصدر: American journal of medical genetics. Part A, 182 (11
مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Cerebellum, Cerebellar ataxia, business.industry, Sciences bio-médicales et agricoles, 030105 genetics & heredity, Phenotype, Temporal lobe, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Genetics, Brain positron emission tomography, Medicine, Ataxic Gait, medicine.symptom, business, Exome, Genetics (clinical)
وصف الملف: 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba80b5033a6456fe2ad34a7d28ad329Test
https://doi.org/10.1002/ajmg.a.61805Test -
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المؤلفون: Tetsushi Kataura, Elsje G Otten, Yoana Rabanal‐Ruiz, Elias Adriaenssens, Francesca Urselli, Filippo Scialo, Lanyu Fan, Graham R Smith, William M Dawson, Xingxiang Chen, Wyatt W Yue, Agnieszka K Bronowska, Bernadette Carroll, Sascha Martens, Michael Lazarou, Viktor I Korolchuk
المساهمون: Kataura, T., Otten, E. G., Rabanal-Ruiz, Y., Adriaenssens, E., Urselli, F., Scialo, F., Fan, L., Smith, G. R., Dawson, W. M., Chen, X., Yue, W. W., Bronowska, A. K., Carroll, B., Martens, S., Lazarou, M., Korolchuk, V. I.
مصطلحات موضوعية: autophagy, mitophagy, General Immunology and Microbiology, General Neuroscience, redox, p62, NDP52, Molecular Biology, General Biochemistry, Genetics and Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56ceed8916832358c51cd75384593b4Test
https://hdl.handle.net/11591/485468Test -
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المؤلفون: Sabrina R. Mackinnon, Gustavo A. Bezerra, Tobias Krojer, Tamas Szommer, Frank von Delft, Paul E. Brennan, Wyatt W. Yue
المصدر: Frontiers in chemistry. 10
مصطلحات موضوعية: General Chemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf9b1a061354edcffe29b0b42653014Test
https://pubmed.ncbi.nlm.nih.gov/35601556Test -
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المؤلفون: I. M. Ferreira, Wyatt W. Yue, D. S. Froese, L. Shrestha, T. J. McCorvie, M. Tu, Seungil Han, Paula M. Loria, A. P. Berg
مصطلحات موضوعية: Conformational change, chemistry.chemical_compound, Glycogenin, Glucose 6-phosphate, chemistry, Biochemistry, Glycogen, biology, Phosphatase, Allosteric regulation, biology.protein, Phosphorylation, Glycogen synthase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59da5a15b680c88b18b55d4f27839ec4Test
https://doi.org/10.1101/2021.11.12.468446Test -
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المؤلفون: Wyatt W. Yue, Thomas J. McCorvie, Bianca Dimitrov, Henry J. Bailey, Kevin G. Hicks, Stefan Kölker, Sven W. Sauer, Gustavo Arruda Bezerra, Juergen G. Okun, W. Foster, Jared Rutter
المصدر: IUCrJ, Vol 7, Iss 4, Pp 693-706 (2020)
IUCrJمصطلحات موضوعية: Cryo-electron microscopy, 2-oxoadipate, Lysine, Oxidative phosphorylation, Mitochondrion, Biochemistry, thiamine diphosphate, 03 medical and health sciences, enzyme mechanisms, 0302 clinical medicine, multi-protein complexes, thiamine diphosphate, DHTKD1, General Materials Science, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Crystallography, biology, 2-oxoacid dehydrogenase, Active site, Substrate (chemistry), General Chemistry, Condensed Matter Physics, Research Papers, 2-oxoacid dehydrogenase, 3. Good health, Enzyme, chemistry, QD901-999, human dhtkd1, biology.protein, Biophysics, cryo-em, lysine catabolism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6477f2f702f20628cd60b07635802f1Test
https://doi.org/10.1107/s205225252000696xTest -
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المؤلفون: Catherine Tham, Jesse Coker, William Foster, Tobias Krojer, Lizbe Koekomer, Yuko Ohara-Nemoto, Takayuki K. Nemoto, Wyatt W. Yue, Frank von Delft, Gustavo Arruda Bezerra
مصطلحات موضوعية: Protein, Drug Discovery, Target, Periodontitis, Inflammation, Alzheimer's disease, Type 2 diabetes, Porphyromonas gingivalis
العلاقة: info:eu-repo/grantAgreement/WT/Molecular Basis of Cell Function/106169/; https://zenodo.org/record/6282253Test; https://doi.org/10.5281/zenodo.6282253Test; oai:zenodo.org:6282253
الإتاحة: https://doi.org/10.5281/zenodo.6282253Test
https://doi.org/10.5281/zenodo.6281991Test
https://zenodo.org/record/6282253Test -
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المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s002Test
https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276Test -
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المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s003Test
https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279Test -
29صورة
المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s001Test
https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273Test -
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المؤلفون: Sabrina R. Mackinnon, Gustavo A. Bezerra, Tobias Krojer, Tamas Szommer, Frank von Delft, Paul E. Brennan, Wyatt W. Yue
مصطلحات موضوعية: Biochemistry, Environmental Chemistry, Geochemistry, Organic Chemistry, Inorganic Chemistry, Nuclear Chemistry, Medical Biochemistry: Proteins and Peptides (incl. Medical Proteomics), Medical Biochemistry and Metabolomics not elsewhere classified, Food Chemistry and Molecular Gastronomy (excl. Wine), Analytical Biochemistry, Cell Neurochemistry, Enzymes, Electroanalytical Chemistry, Analytical Chemistry not elsewhere classified, Organic Green Chemistry, Physical Organic Chemistry, Catalysis and Mechanisms of Reactions, Environmental Chemistry (incl. Atmospheric Chemistry), glycolate oxidase, glyoxylate metabolism, primary hyperoxaluria, fragment-based drug discovery, substrate reduction therapy
الإتاحة: https://doi.org/10.3389/fchem.2022.844598.s006Test
https://figshare.com/articles/dataset/DataSheet6_Novel_Starting_Points_for_Human_Glycolate_Oxidase_Inhibitors_Revealed_by_Crystallography-Based_Fragment_Screening_ZIP/19702288Test