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1دورية أكاديمية
المؤلفون: Ehud Goldin, Wei Zheng, Omid Motabar, Noel Southall, Jae Hyuk Choi, Juan Marugan, Christopher P Austin, Ellen Sidransky
المصدر: PLoS ONE, Vol 7, Iss 1, p e29861 (2012)
وصف الملف: electronic resource
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المؤلفون: Wei Zheng, Wendy Westbroek, Noel Southall, Ehud Goldin, Juan J. Marugan, Ellen Sidransky, Jae H. Choi, Samarjit Patnaik, Omid Motabar, William Leister, Arash Velayati, Wendy A. Lea
المصدر: Journal of Medicinal Chemistry. 55:5734-5748
مصطلحات موضوعية: Chemistry, Drug discovery, High-throughput screening, Small Molecule Libraries, Small molecule, Glucosylceramidase, medicine.anatomical_structure, Biochemistry, Lysosome, Drug Discovery, medicine, Molecular Medicine, Structure–activity relationship, Glucocerebrosidase
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المؤلفون: Ehud Goldin, Juan J. Marugan, Ellen Sidransky, Jingbo Xiao, Noel Southall, Wei Zheng, Samarjit Patnaik, Wendy A. Lea, Anton Simeonov, Omid Motabar, Maria DeBernardi, Wenwei Huang, Wendy Westbroek
المصدر: Med. Chem. Commun.. 3:56-60
مصطلحات موضوعية: Pharmacology, biology, business.industry, Organic Chemistry, Iminosugar, Pharmaceutical Science, Lysosomal storage disorders, Bioinformatics, Biochemistry, Small molecule, Article, Cell activity, Chaperone (protein), Drug Discovery, biology.protein, Molecular Medicine, Medicine, business, Glucocerebrosidase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975a987811e608de710184d7c7aff0b0
https://doi.org/10.1039/c1md00200g -
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المؤلفون: Ellen Sidransky, Ehud Goldin, Kazuyo Wakabayashi, Ann Marie Gustafson
المصدر: Molecular Genetics and Metabolism. 104:206-213
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Encephalopathy, Disease, Biology, Eye, Bioinformatics, Nervous System, Biochemistry, Article, Diagnosis, Differential, Mice, Transient Receptor Potential Channels, Endocrinology, Mucolipidoses, Molecular genetics, Gastrins, Genetics, medicine, Animals, Humans, Caenorhabditis elegans, Molecular Biology, MCOLN1, Inclusion Bodies, medicine.disease, Drosophila melanogaster, Jews, Models, Animal, Mucolipidosis type IV, Differential diagnosis, Rare disease
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المؤلفون: Ehud Goldin, Thai Leong Yap, Wendy Westbroek, James M. Gruschus, Arash Velayati, Jennifer C. Lee, Nima Moaven, Ellen Sidransky
المصدر: Journal of Biological Chemistry. 286:28080-28088
مصطلحات موضوعية: Mutant, Mutation, Missense, Biology, medicine.disease_cause, Biochemistry, Protein–protein interaction, chemistry.chemical_compound, Cell Line, Tumor, Lysosome, medicine, Humans, Enzyme Inhibitors, Molecular Biology, Alpha-synuclein, Mutation, Gaucher Disease, Wild type, Parkinson Disease, Cell Biology, Hydrogen-Ion Concentration, medicine.anatomical_structure, Amino Acid Substitution, chemistry, Multiprotein Complexes, Protein Structure and Folding, alpha-Synuclein, Synuclein, Glucosylceramidase, Lysosomes, Glucocerebrosidase, Inositol
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0350a2691fa4076c8d990987dea235
https://doi.org/10.1074/jbc.m111.237859 -
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المؤلفون: Ehud Goldin
المصدر: Molecular Genetics and Metabolism. 101:307-310
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Disease, Biology, medicine.disease_cause, Biochemistry, Article, chemistry.chemical_compound, Endocrinology, Parkinsonian Disorders, Genetics, medicine, Animals, Humans, Direct pathway of movement, Molecular Biology, Alpha-synuclein, Mutation, Gaucher Disease, Mechanism (biology), Parkinsonism, medicine.disease, Glucosylceramidase, chemistry, Glucocerebrosidase
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7
المؤلفون: Ehud Goldin, Ellen Sidransky, Wei Zheng, Omid Motabar
المصدر: Current Chemical Genomics
مصطلحات موضوعية: High-throughput screening, Bioinformatics, Biochemistry, Article, Enzyme activator, Lysosomal Storage Disorders, Genetics, Medicine, Molecular Biology, Alpha-Galactosidase, Chaperone Therapy, Alpha-galactosidase, biology, business.industry, Drug discovery, Drug Development, Enzyme replacement therapy, medicine.disease, High Throughput Screening, Fabry disease, Small molecule, Drug development, biology.protein, Fabry Disease, Molecular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81be2396e0e507e7eda33a7ae06665a3
https://doi.org/10.2174/1875397301004010050 -
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المؤلفون: Joseph S. Geer, Kenton R. Holden, Steve A. Skinner, Ehud Goldin
المصدر: Pediatric Neurology. 42:223-226
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Eye disease, DNA Mutational Analysis, Population, Mutation, Missense, TRPM Cation Channels, Gene mutation, Polymerase Chain Reaction, White People, Article, Transient Receptor Potential Channels, Developmental Neuroscience, Mucolipidoses, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, education, DNA Primers, Genetic testing, MCOLN1, education.field_of_study, medicine.diagnostic_test, business.industry, Haplotype, Brain, Membrane Proteins, Neurodegenerative Diseases, Exons, medicine.disease, Magnetic Resonance Imaging, Haplotypes, Neurology, Child, Preschool, Jews, Pediatrics, Perinatology and Child Health, CpG Islands, Female, Neurology (clinical), Mucolipidosis type IV, business
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المؤلفون: Ellen Sidransky, Ehud Goldin
المصدر: Blood Cells, Molecules, and Diseases. 68:3
مصطلحات موضوعية: Molecular Medicine, Cell Biology, Hematology, Molecular Biology
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المؤلفون: Ehud Goldin, Baris Korkmaz, Cengiz Yalcinkaya, Beyhan Tüysüz, Baris Metin
المصدر: Brain and Development. 31:702-705
مصطلحات موضوعية: Male, Clinodactyly, Turkey, Micrognathism, TRPM Cation Channels, First year of life, Biology, medicine.disease_cause, Corpus Callosum, Transient Receptor Potential Channels, Developmental Neuroscience, Internal Capsule, Mucolipidoses, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, splice, Child, Gene, MCOLN1, Genetics, Mutation, General Medicine, medicine.disease, Magnetic Resonance Imaging, Ashkenazi jews, Phenotype, Pediatrics, Perinatology and Child Health, Neurology (clinical), Mucolipidosis type IV, medicine.symptom