نتائج البحث - "Menkes Kinky Hair Syndrome"

المساهمون: Gualandi F., Sette E., Fortunato F., Bigoni S., De Grandis D., Scotton C., Selvatici R., Neri M., Incensi A., Liguori R., Storbeck M., Karakaya M., Simioni V., Squarzoni S., Timmerman V., Wirth B., Donadio V., Tugnoli V., Ferlini A.

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Retrograde ejaculation, Pathology, medicine.medical_specialty, Peripheral neuropathy, ATP7A, Occipital horn syndrome, Socio-culturale, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, ATP7A mutation, Motor Neuron Disease, Menkes Kinky Hair Syndrome, Genetic Association Studies, Genetics (clinical), Aged, Adenosine Triphosphatases, Mutation, business.industry, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Menkes disease, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a3fd435375c5c8fdc015839378ff6bTest
https://doi.org/10.1016/j.nmd.2019.08.008Test

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دورية أكاديمية

Conserved Residues Modulate Copper Release in Human Copper Chaperone Atox1

المؤلفون: Hussain, Faiza, Olson, John S., Wittung-Stafshede, Pernilla

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2008 Aug 01. 105(32), 11158-11163.

الوصول الحر: https://www.jstor.org/stable/25463309Test

النص الكامل

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دورية أكاديمية

The Menkes/Wilson Disease Gene Homologue in Yeast Provides Copper to a Ceruloplasmin-Like Oxidase Required for Iron Uptake

المؤلفون: Yuan, Daniel S., Stearman, Robert, Dancis, Andrew, Dunn, Teresa, Beeler, Troy, Klausner, Richard D.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1995 Mar . 92(7), 2632-2636.

الوصول الحر: https://www.jstor.org/stable/2367174Test

النص الكامل

8

دورية أكاديمية

P-Type ATPase from the Cyanobacterium Synechococcus 7942 Related to the Human Menkes and Wilson Disease Gene Products

المؤلفون: Phung, Le T., Ajlani, Ghada, Haselkorn, Robert

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1994 Sep . 91(20), 9651-9654.

الوصول الحر: https://www.jstor.org/stable/2365895Test

النص الكامل

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The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria

المؤلفون: Ling Yi, Haojun Yang, Lelita T. Braiterman, Martina Ralle, Stephen G. Kaler, Michael P. Murphy, Ashima Bhattacharjee, Tony R. Capps, Ya-Wen Lu, Arianrhod Conrad-Antoville, Emily Robinson, Megan Duffy, Svetlana Lutsenko, Michael J. Wolfgang

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, ATP7A, Biological Transport, Active, Mitochondrion, Biology, biosensor, Biochemistry, Redox, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 3T3-L1 Cells, medicine, Animals, Humans, Menkes Kinky Hair Syndrome, neurological disease, glutathione, Cation Transport Proteins, Molecular Biology, Cell Line, Transformed, Adenosine Triphosphatases, MitoQ, Molecular Bases of Disease, Hydrogen Peroxide, Menkes disease, Cell Biology, Glutathione, Fibroblasts, medicine.disease, Mitochondria, Cell biology, Cytosol, 030104 developmental biology, chemistry, Copper-Transporting ATPases, copper transport, oxidation-reduction (redox), Oxidation-Reduction, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf003c64fd498347cd062dd5033e553Test
https://doi.org/10.1074/jbc.m116.727248Test

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The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers

المساهمون: LS Interne geneeskunde, Spoedkliniek Gezelschapsdieren Midden-NL, Onderzoek, Universitair Veterinair Diagnostisch Lab, dCSCA RMSC-1, dCSCA AVR, Center for Liver, Digestive and Metabolic Diseases (CLDM), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE)

المصدر: Disease Models & Mechanisms, 9(1), 25. Company of Biologists Ltd
Disease Models & Mechanisms
Disease Models & Mechanisms, 9, 25. Company of Biologists Ltd
Disease Models & Mechanisms, Vol 9, Iss 1, Pp 25-38 (2016)
Disease models & mechanisms, 9(1), 25-38. COMPANY OF BIOLOGISTS LTD

مصطلحات موضوعية: 0301 basic medicine, Male, Medicine (miscellaneous), lcsh:Medicine, PROTEIN, medicine.disease_cause, Endoplasmic Reticulum, 0403 veterinary science, Immunology and Microbiology (miscellaneous), Hepatolenticular Degeneration, Dog, Missense mutation, Menkes Kinky Hair Syndrome, Non-U.S. Gov't, Cation Transport Proteins, POPULATION, Genetics, Adenosine Triphosphatases, education.field_of_study, Mutation, Research Support, Non-U.S. Gov't, POLARIZED HEPATIC CELLS, MURINE MODEL, 04 agricultural and veterinary sciences, Hep G2 Cells, ASSOCIATION, Phenotype, Liver, Female, lcsh:RB1-214, Research Article, STORAGE, Genotype, 040301 veterinary sciences, Population, ATP7A, Molecular Sequence Data, Neuroscience (miscellaneous), Mutation, Missense, chemistry.chemical_element, Biology, Research Support, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Dogs, ATP7B, medicine, lcsh:Pathology, Journal Article, Animals, Humans, TRAFFICKING, Amino Acid Sequence, education, Sequence Homology, Amino Acid, MUTATIONS, lcsh:R, Genetic Variation, Sequence Analysis, DNA, medicine.disease, Copper, Protein Structure, Tertiary, Disease Models, Animal, 030104 developmental biology, chemistry, Copper-Transporting ATPases, ATPASE, Menkes disease, Copper deficiency, Genome-Wide Association Study

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d50870833b89d395c2eaa5fbc7f318Test
https://research.rug.nl/en/publications/e0cf5b7e-dca2-46bb-85e7-1aa57477db95Test

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