المؤلفون: Victor Faundez, Christoph J. Fahrni, Gabriele Meloni, Daisy Bourassa, Shefali Harankhedkar, Stephanie A. Zlatic, Jenifer S. Calvo, M. Thomas Morgan, Adam M. McCallum

المصدر: Proceedings of the National Academy of Sciences. 116:12167-12172

مصطلحات موضوعية: Phosphines, Mutant, chemistry.chemical_element, Buffers, Ligands, chemistry.chemical_compound, medicine, Menkes Kinky Hair Syndrome, Fluorescent Dyes, Multidisciplinary, Ligand, Glutathione, Fibroblasts, medicine.disease, Copper, Dissociation constant, Cytosol, Microscopy, Fluorescence, Multiphoton, chemistry, Mutation, Physical Sciences, Biophysics, Menkes disease, Intracellular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8998ba44c9a655c8f3b74610b0d44d80Test
https://doi.org/10.1073/pnas.1900172116Test

المؤلفون: Olga Krabbe, Max W. Shen, Jonathan Y. Hsu, Richard I. Sherwood, Sannie J. Culbertson, Christopher A. Cassa, Daniel Worstell, Mandana Arbab, David K. Gifford, David R. Liu

المصدر: Nature. 563:646-651

مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA repair, MEDLINE, Computational biology, Biology, Article, Oracle, Substrate Specificity, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Genome editing, CRISPR-Associated Protein 9, Genotype, Genetics, Humans, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Guide RNA, Menkes Kinky Hair Syndrome, Molecular Biology, Gene, Alleles, Genetics (clinical), 030304 developmental biology, Gene Editing, 0303 health sciences, Multidisciplinary, Base Sequence, Cas9, Reproducibility of Results, RNA, Templates, Genetic, Fibroblasts, HCT116 Cells, HEK293 Cells, 030104 developmental biology, Hermanski-Pudlak Syndrome, Human genome, CRISPR-Cas Systems, K562 Cells, 030217 neurology & neurosurgery, RNA, Guide, Kinetoplastida

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cbbe9474f24c435818742b1bbea5af6Test
https://doi.org/10.1038/s41586-018-0686-xTest

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

المؤلفون: Goka, Thomas J., Stevenson, Roger E., Hefferan, Patrick M., Howell, R. Rodney

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1976 Feb 01. 73(2), 604-606.

الوصول الحر: https://www.jstor.org/stable/65158Test

المؤلفون: Pontus Gourdon, Per Amstrup Pedersen, Lisbeth Birk Møller, Tina Skjørringe, Poul Nissen, Sidsel Salling Thorborg

المصدر: Skjørringe, T, Pedersen, P A, Thorborg, S S, Nissen, P, Gourdon, P E & Møller, L B 2017, ' Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease ', Scientific Reports, vol. 7, 757 . https://doi.org/10.1038/s41598-017-00618-6Test
Skjørringe, T, Pedersen, P A, Thorborg, S S, Nissen, P, Gourdon, P & Møller, L B 2017, ' Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease ', Scientific Reports, vol. 7, no. 1, 757 . https://doi.org/10.1038/s41598-017-00618-6Test
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-18 (2017)

مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Science, ATPase, ATP7A, Intracellular Space, Mutation, Missense, Fluorescent Antibody Technique, macromolecular substances, Biology, medicine.disease_cause, Models, Biological, Severity of Illness Index, Article, Dephosphorylation, 03 medical and health sciences, medicine, Humans, Phosphorylation, Menkes Kinky Hair Syndrome, Alleles, Cellular localization, Mutation, Multidisciplinary, Fibroblasts, medicine.disease, Molecular biology, Transport protein, Alternative Splicing, Protein Transport, Phenotype, 030104 developmental biology, Amino Acid Substitution, Copper-Transporting ATPases, Proteolysis, biology.protein, Medicine, Menkes disease, Biomarkers, Copper

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5727c3323fc7b95dd399d98061308406Test
https://curis.ku.dk/portal/da/publications/characterization-of-atp7a-missense-mutants-suggests-a-correlation-between-intracellular-trafficking-and-severity-ofTest-menkes-disease(1e2115a9-bcf6-48c8-88d2-af2c8f46c075).html

المؤلفون: Lian Li, Avanti Gokhale, Elizabeth M. Scott, Victor Faundez, Samantha Rudin-Rush, Morgan McCall, Alysia D. Vrailas-Mortimer, John Bowen Davis, Erica Werner, Reid Burch, Cortnie Hartwig, Michael J. Petris, Lucas J. Carey, Stephanie A. Zlatic

المصدر: Cell Systems. 6:368-380.e6

مصطلحات موضوعية: Male, Proteomics, 0301 basic medicine, Histology, ATP7A, Locus (genetics), Disease, Biology, Article, Pathology and Forensic Medicine, Mice, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, medicine, Animals, Homeostasis, Humans, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Adenosine Triphosphatases, Genetics, Computational Biology, Cell Biology, Fibroblasts, medicine.disease, Phenotype, Mitochondria, Pedigree, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Copper-Transporting ATPases, Mutation, Proteome, Drosophila, Female, Menkes disease, Ubiquitin Thiolesterase, Copper, 030217 neurology & neurosurgery, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812b163771cebfe37406768afb36cf5Test
https://doi.org/10.1016/j.cels.2018.01.008Test

المؤلفون: Phillip J. Stone, Paul Toselli, Yinzhi Zhao, Iih-Nan Chou, Denise K. Chou, Wande Li, Song Gao

المصدر: Toxicological Sciences. 99:267-276

مصطلحات موضوعية: Glutamate-Cysteine Ligase, ATPase, ATP7A, Down-Regulation, Lysyl oxidase, Toxicology, Cell Line, Protein-Lysine 6-Oxidase, Rats, Sprague-Dawley, symbols.namesake, Superoxide Dismutase-1, medicine, Animals, Homeostasis, Metallothionein, Menkes Kinky Hair Syndrome, Fibroblast, Cation Transport Proteins, Lung, Adenosine Triphosphatases, Dose-Response Relationship, Drug, biology, Superoxide Dismutase, Endoplasmic reticulum, Drug Tolerance, Fibroblasts, Golgi apparatus, Molecular biology, Extracellular Matrix, Rats, Up-Regulation, medicine.anatomical_structure, Copper-Transporting ATPases, symbols, biology.protein, Environmental Pollutants, Biomarkers, Copper, Cadmium, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb170190883fae56d9ba02329167ce71Test
https://doi.org/10.1093/toxsci/kfm158Test

المؤلفون: Chris D. Vulpe, Mauricio González, Alexander V Loguinov, Angela D Armendariz

المصدر: PHYSIOLOGICAL GENOMICS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Amyloid, DNA, Complementary, Prions, Physiology, Down-Regulation, chemistry.chemical_element, Mice, Transgenic, Biology, Prion Proteins, Amyloid beta-Protein Precursor, Mice, Downregulation and upregulation, Genetic model, Genetics, medicine, Animals, Homeostasis, Protein Precursors, Menkes Kinky Hair Syndrome, Cytoskeleton, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Amyloid beta-Peptides, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Spectrophotometry, Atomic, Copper toxicity, Computational Biology, Fibroblasts, Blotting, Northern, medicine.disease, Copper, Molecular biology, Culture Media, Up-Regulation, Mice, Inbred C57BL, Gene expression profiling, Oxidative Stress, Gene Expression Regulation, chemistry, Cell culture, Mutation, RNA, Menkes disease, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c9026113dc07b15fa9e58887713c9fTest
https://doi.org/10.1152/physiolgenomics.00196.2003Test

المؤلفون: John W. Belmont, Katie Plunkett, Nina Horn, Zeynep Tümer, Lena Poulsen, Lisbeth Birk Møller

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, Recombinant Fusion Proteins, Genetic counseling, ATP7A, Biology, Germline mutation, medicine, Humans, Menkes Kinky Hair Syndrome, Allele, Cation Transport Proteins, Cells, Cultured, Germ-Line Mutation, Genetics (clinical), Southern blot, Adenosine Triphosphatases, Genetics, Mosaicism, Haplotype, Biological Transport, Fibroblasts, medicine.disease, Molecular biology, Pedigree, Haplotypes, Copper-Transporting ATPases, Female, Menkes disease, Copper, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc9ec2d85f3042d93614ec94a068b3bTest
https://doi.org/10.1089/gte.2004.8.286Test

المؤلفون: Masaki Takayanagi, Hiroshi Ushijima, Hiroko Kodama, Daishi Mochizuki, Kodo Sato, Yan-Hong Gu, Emi Sato, Cheng-Chun Lee, Atsushi Ogawa, Yukishige Yanagawa

المصدر: Brain and Development. 24:715-718

مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, DNA Mutational Analysis, ATP7A, Physiology, Prenatal diagnosis, Biology, medicine.disease_cause, Polymerase Chain Reaction, Central nervous system disease, Developmental Neuroscience, Pregnancy, Prenatal Diagnosis, Internal medicine, medicine, Humans, Amnion, Menkes Kinky Hair Syndrome, Cells, Cultured, Mutation, Fetus, Chorion, General Medicine, Fibroblasts, medicine.disease, Pedigree, Fetal Diseases, Endocrinology, Chorionic Villi Sampling, Pediatrics, Perinatology and Child Health, Amniocentesis, Female, Menkes disease, Neurology (clinical), Menkes' syndrome, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157d243bf21f825730c456ecb4c3d4bbTest
https://doi.org/10.1016/s0387-7604Test(02)00093-1