نتائج البحث - "Cristina Cerqua"

المساهمون: University of Padova [Padova, Italy], Istituto di Ricerca Pediatrica Città della Speranza, Génomique et Évolution des Microorganismes (TIMC-IMAG-GEM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Padova University School of Medicine [Padova, Italy], Dpt. of Pediatrics, Universita degli Studi di Padova

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-43014-y⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial Diseases, Ubiquinone, Respiratory chain, lcsh:Medicine, Mitochondrion, Article, Cofactor, Electron Transport, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, COQ6, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, lcsh:Science, Coenzyme Q10, Muscle Weakness, Multidisciplinary, Molecular medicine, ATP synthase, biology, lcsh:R, Vitamin K 2, Mitochondria, 3. Good health, Drosophila melanogaster, 030104 developmental biology, Mitochondrial respiratory chain, chemistry, Biochemistry, Coenzyme Q – cytochrome c reductase, Enzyme mechanisms, Mutation, biology.protein, Ataxia, lcsh:Q, 030217 neurology & neurosurgery, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e813743d842acbf104bd8389e05b484b
http://hdl.handle.net/11577/3303578

Find this article in full text from ProQuest

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Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

المؤلفون: Eva Trevisson, Plácido Navas, Friedhelm Hildebrandt, Manuel Jesús Acosta, Maria Andrea Desbats, Cristina Calderan, Cristina Cerqua, Leonardo Salviati, Geppo Sartori, Shazia Ashraf, Matteo Cassina, Luis Vazquez Fonseca, Mara Doimo

المساهمون: Fondazione Cariparo, Istituto di Ricerca Pediatrica Città della Speranza, Ministero della Salute, Università degli Studi di Padova

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Human Mutation

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Nephrotic Syndrome, Drug Resistance, yeast, chemistry.chemical_compound, Enzyme Stability, mitochondrial phropathy, Child, Research Articles, Genetics (clinical), food and beverages, steroid‐resistant nephrotic syndrome, coenzyme Q deficiency, COQ8B, mitochondrial nephropathy, steroid-resistant nephrotic syndrome, Genetics, Child, Preschool, Mitochondrial Membranes, Medical genetics, Steroids, Medical Genetics, Research Article, Adult, medicine.medical_specialty, Adolescent, Saccharomyces cerevisiae, Biology, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Biosynthesis, Internal medicine, medicine, Humans, In patient, Coenzyme Q deficiency, Medicinsk genetik, Steroid-resistant nephrotic syndrome, Polymorphism, Genetic, Genetic Complementation Test, Infant, medicine.disease, Yeast, 030104 developmental biology, Endocrinology, chemistry, Coenzyme Q – cytochrome c reductase, Mutation, Mitochondrial nephropathy, Nephrotic syndrome, Protein Kinases, Function (biology)