نتائج البحث - "Mitochondrial medicine [IGMD 8]"

1

Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95

مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test

2

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

المؤلفون: Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg

المصدر: Gene, 516, 162-7
Gene, 516, 1, pp. 162-7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9Test
https://doi.org/10.1016/j.gene.2012.12.024Test

3

The metagenome of the marine anammox bacterium 'Candidatus Scalindua profunda' illustrates the versatility of this globally important nitrogen cycle bacterium

المصدر: Environmental Microbiology, 15, 5, pp. 1275-89
Environmental Microbiology, 15, 5, pp. 1275-1289
Environmental Microbiology
Environmental Microbiology, 15, 1275-1289
Environmental Microbiology, 15 (5), 2013
Environmental Microbiology, 5, 15, 1275-1289
Environmental Microbiology, 15, 1275-89

مصطلحات موضوعية: Aquatic Organisms, Nitrite Reductases, Oceans and Seas, Biomedical Innovation, Oligopeptide transport, Biology, Microbiology, Enrichment culture, 03 medical and health sciences, Life, RNA, Ribosomal, 16S, 14. Life underwater, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Research Articles, 030304 developmental biology, 0303 health sciences, 030306 microbiology, Nitrogen Cycle, biology.organism_classification, Nitrite reductase, Quaternary Ammonium Compounds, Anammoxosome, Planctomycetales, MSB - Microbiology and Systems Biology, Mitochondrial medicine [IGMD 8], Biochemistry, Metagenomics, Anammox, Ecological Microbiology, Candidatus, Scalindua, Metagenome, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], EELS - Earth, Environmental and Life Sciences, Water Microbiology, Oxidation-Reduction, Healthy Living, Genome, Bacterial

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2e949f6d17e2185371ff449954535aTest
https://hdl.handle.net/2066/117292Test

4

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

المؤلفون: Nicole I. Wolf, Richard J. Rodenburg, Patrick Ferreira, Peter Heutink, Truus E.M. Abbink, Leo G.J. Nijtmans, Dietz Rating, Adeline Vanderver, Roelineke J. Lunsing, Hugo A. Arroyo, Sietske H. Kevelam, Anne Mitchell, Marjo S. van der Knaap, Carola G.M. van Berkel

المساهمون: Other departments, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Faculteit Medische Wetenschappen/UMCG, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: ResearcherID
Neurology, 80(17), 1577-1583. Lippincott Williams and Wilkins
Neurology, 80, 17, pp. 1577-83
Kevelam, S H G, Rodenburg, R J, Wolf, N I, Ferreira, P, Lunsing, R J, Nijtmans, L G, Mitchell, A, Arroyo, H A, Rating, D, Vanderver, A, van Berkel, C G M, Abbink, G E M, Heutink, P & van der Knaap, M S 2013, ' NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern ', Neurology, vol. 80, no. 17, pp. 1577-1583 . https://doi.org/10.1212/WNL.0b013e31828f1914Test
Neurology, 80, 1577-83
Neurology, 80(17), 1577-1583. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 80(17), 1577-1583. American Academy of Neurology

مصطلحات موضوعية: INVOLVEMENT, Pathology, medicine.medical_specialty, DISORDERS, DNA Mutational Analysis, LEUKOENCEPHALOPATHY, Biology, Corpus callosum, medicine.disease_cause, DIAGNOSIS, BRAIN-STEM, Article, DISEASE, White matter, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Mutant protein, Leukoencephalopathies, medicine, Humans, Gene, Exome sequencing, Genetics, Mutation, Electron Transport Complex I, medicine.diagnostic_test, MEMBRANE-PROTEIN, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Magnetic resonance imaging, Magnetic Resonance Imaging, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Cerebellar cortex, Neurology (clinical), WHITE-MATTER

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618906801e837b2f28574d6f16d7f930Test
https://doi.org/10.1212/wnl.0b013e31828f1914Test

5

Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration

المؤلفون: Henricus A. M. Mutsaers, Jitske Jansen, L.P.W.J. van den Heuvel, Raymond Vanholder, Martijn J. Wilmer, Eva Schepers, Marleen Forkink, P.H.H. van den Broek, Griet Glorieux, Rosalinde Masereeuw, Joost G. J. Hoenderop, Dorien Reijnders

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 1, pp. 142-50
Mutsaers, H A M, Wilmer, M J G, Reijnders, D, Jansen, J, van den Broek, P H H, Forkink, M, Schepers, E, Glorieux, G, Vanholder, R, van den Heuvel, L P, Hoenderop, J G & Masereeuw, R 2013, ' Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration ', Biochimica et Biophysica Acta-Molecular Basis of Disease, vol. 1832, no. 1, pp. 142-150 . https://doi.org/10.1016/j.bbadis.2012.09.006Test
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 142-50

مصطلحات موضوعية: medicine.medical_specialty, Glucuronosyltransferase, Organic anion transporter 1, Drug-Related Side Effects and Adverse Reactions, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Glucuronidation, Uremic toxins, Oxidative phosphorylation, Kidney, Renal disorder Energy and redox metabolism [IGMD 9], Cell Line, Electron Transport, Cresols, Internal medicine, Chronic kidney disease, medicine, Humans, Umbelliferones, Molecular Biology, Uremia, Renal disorder [IGMD 9], Drug metabolism, biology, Cardiovascular diseases [NCEBP 14], Chemistry, Kidney metabolism, Mitochondrial medicine Energy and redox metabolism [IGMD 8], medicine.disease, Mitochondria, Succinate Dehydrogenase, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Pharmaceutical Preparations, biology.protein, Molecular Medicine, UDP-glucuronosyltransferases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8c1c4d480cac224ea4af124b773414Test

6

Complexome Profiling Identifies TMEM126B as a Component of the Mitochondrial Complex I Assembly Complex

المؤلفون: Stefan Dröse, Andreas S. Reichert, Ulrich Brandt, Jörg Ackermann, Heinrich Heide, Bettina Schwamb, Martin Zörnig, Mirco Steger, Ilka Wittig, Ina Koch, Lea Bleier

المصدر: Cell Metabolism, 16, 4, pp. 538-49
Cell Metabolism, 16, 538-49

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d536902e6079b1ac583f53d295e1752Test

7

Protein S-nitrosylation and denitrosylation in the mouse spinal cord upon injury of the sciatic nerve

المؤلفون: Ilka Wittig, Ulrich Brandt, Reynir Scheving, Irmgard Tegeder, Heinrich Heide, Mirco Steger, Boris Albuquerque

المصدر: Journal of Proteomics, 75, 3987-4004
Journal of Proteomics, 75, 13, pp. 3987-4004

مصطلحات موضوعية: Proteomics, Protein Disulfide-Isomerases, Biophysics, Biochemistry, Glutathione Synthase, Nitric oxide, Two-Dimensional Difference Gel Electrophoresis, Mice, chemistry.chemical_compound, medicine, Animals, Protein disulfide-isomerase, Aconitate Hydratase, S-Nitrosothiols, biology, Mitochondrial medicine Energy and redox metabolism [IGMD 8], S-Nitrosylation, Anatomy, Sciatic nerve injury, Nerve injury, medicine.disease, Sciatic Nerve, Cell biology, Nitric oxide synthase, Mitochondrial medicine [IGMD 8], NG-Nitroarginine Methyl Ester, Spinal Cord, chemistry, biology.protein, Synaptic signaling, Sciatic nerve, Nitric Oxide Synthase, medicine.symptom, Oxidation-Reduction, Peroxiredoxin VI, Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7192fd2203d808c540596767369e4ed1Test
https://doi.org/10.1016/j.jprot.2012.05.006Test

8

Clinical and laboratory evaluation of a real-time PCR for Clostridium difficile toxin A and B genes

المؤلفون: C. van der Rijt-van den Biggelaar, C. J. M. Bartels, Willem J. G. Melchers, A. S. de Jong, E. de Jong, Patrick D. J. Sturm

المصدر: European Journal of Clinical Microbiology & Infectious Diseases
European Journal of Clinical Microbiology and Infectious Diseases, 31, 9, pp. 2219-25
European Journal of Clinical Microbiology and Infectious Diseases, 31, 2219-25

مصطلحات موضوعية: Microbiology (medical), Adult, Male, medicine.medical_specialty, medicine.drug_class, Antibiotics, Bacterial Toxins, Clostridium difficile toxin A, Clostridium difficile toxin B, Biology, Invasive mycoses and compromised host Infection and autoimmunity [N4i 2], Real-Time Polymerase Chain Reaction, Asymptomatic, Sensitivity and Specificity, Article, law.invention, Microbiology, Enterotoxins, Young Adult, Medical microbiology, Bacterial Proteins, law, medicine, Humans, Prospective Studies, Polymerase chain reaction, Aged, Aged, 80 and over, Clostridioides difficile, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], General Medicine, Clostridium difficile, Middle Aged, Mitochondrial medicine [IGMD 8], Infectious Diseases, Real-time polymerase chain reaction, Molecular Diagnostic Techniques, Clostridium Infections, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380557e70e243ee65876315fe2bf9914Test
http://europepmc.org/articles/PMC3418502Test

9

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

مصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test

10

Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond

المؤلفون: Federica Valsecchi, Jan A.M. Smeitink, Peggy Roestenberg, Werner J.H. Koopman, Ganesh R. Manjeri, Peter H.G.M. Willems

المصدر: Mitochondrion, 12, 57-65
Mitochondrion, 12, 1, pp. 57-65

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fe4e55389f91cbfd0378a67cb72193Test
https://hdl.handle.net/2066/109038Test

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