المؤلفون: Nickles, Dorothee, Chen, Hsuan P, Li, Michael M, Khankhanian, Pouya, Madireddy, Lohith, Caillier, Stacy J, Santaniello, Adam, Cree, Bruce AC, Pelletier, Daniel, Hauser, Stephen L, Oksenberg, Jorge R, Baranzini, Sergio E

المصدر: Human Molecular Genetics. 22(20)

مصطلحات موضوعية: Human Genome, Clinical Research, Genetics, Autoimmune Disease, Neurosciences, Multiple Sclerosis, Biotechnology, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aged, Case-Control Studies, Female, Gene Expression Profiling, Gene Expression Regulation, Humans, Interferons, Longitudinal Studies, Male, Middle Aged, Proteasome Endopeptidase Complex, Quantitative Trait Loci, RNA, Transcriptome, Wnt Signaling Pathway, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

الوصول الحر: https://escholarship.org/uc/item/2p2057wpTest

المؤلفون: Birnbaum, Ramon Y, Everman, David B, Murphy, Karl K, Gurrieri, Fiorella, Schwartz, Charles E, Ahituv, Nadav

المصدر: Human Molecular Genetics. 21(22)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Human Genome, Congenital Structural Anomalies, Biotechnology, Neurosciences, Congenital, Animals, Comparative Genomic Hybridization, Enhancer Elements, Genetic, Gene Expression Profiling, Gene Expression Regulation, Developmental, Gene Order, Genetic Loci, Homeodomain Proteins, Humans, Mice, Organ Specificity, Proteasome Endopeptidase Complex, Transcription Factors, Zebrafish, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6fj4c0cwTest

المؤلفون: Svetlana Fischer, Ronak Patel, Jacqueline Welday, Lisa M. Sharkey, Nathaniel Safren, Alexandra K Windle, Julia E. Gerson, Sami J. Barmada, Emily V. Crowley, Henry L. Paulson

المصدر: Hum Mol Genet

مصطلحات موضوعية: Proteasome Endopeptidase Complex, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Mutant, Autophagy-Related Proteins, Context (language use), Biology, Genetic Heterogeneity, Mice, 03 medical and health sciences, Ubiquilin-2, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Ataxin-3, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, 030304 developmental biology, Neurons, Huntingtin Protein, 0303 health sciences, Exons, Machado-Joseph Disease, General Medicine, medicine.disease, Cell biology, Disease Models, Animal, Cell nucleus, Huntington Disease, 1 General Article - US Office, medicine.anatomical_structure, Proteostasis, Spinocerebellar ataxia, Peptides, Machado–Joseph disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::456a19bd360a8628c3144f91cf434728Test
https://doi.org/10.1093/hmg/ddaa152Test

المؤلفون: Makoto Asahina, Sayuri Nakamura, Ryuichi Tozawa, Reiko Fujinawa, Kotaro Yokoyama, Tadashi Suzuki

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Central Nervous System, Proteasome Endopeptidase Complex, Pathology, medicine.medical_specialty, Glycosylation, Movement disorders, Central nervous system, Biology, Somatosensory system, Microgliosis, Alacrima, Ventral lateral nucleus, Gene Knockout Techniques, 03 medical and health sciences, Congenital Disorders of Glycosylation, 0302 clinical medicine, Intellectual Disability, Peripheral Nervous System, Genetics, medicine, Animals, Humans, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Movement Disorders, Lacrimal Apparatus Diseases, Eye Diseases, Hereditary, Endoplasmic Reticulum-Associated Degradation, General Medicine, medicine.disease, Rats, Astrogliosis, Disease Models, Animal, Phenotype, medicine.anatomical_structure, Ventral posterior nucleus, Mutation, General Article, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd6e761d515e038126454ed5aa2ab2eTest
https://doi.org/10.1093/hmg/ddaa059Test

المؤلفون: Ruiling Wang, Yuchen Li, Susumu Mori, Athanasios S. Alexandris, Qianwei Ren, Mali Jiang, Qi Peng, Juan C. Troncoso, Fanghan Yang, Jen Li Dong, Hao Gu, Janghoo Lim, Jared Lebron, Emma Whela, Zhipeng Hou, Hongshuai Liu, Ronald Wang, Xiaoyan Zhang, Christopher A. Ross, Nicolas Arbez, Tamara Ratovitski, Wenzhen Duan

المصدر: Hum Mol Genet

مصطلحات موضوعية: Dopamine and cAMP-Regulated Phosphoprotein 32, Proteasome Endopeptidase Complex, Huntingtin, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Serine, Mice, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Ubiquitin, Genetics, Huntingtin Protein, medicine, Animals, Humans, Phosphorylation, Molecular Biology, Genetics (clinical), 030304 developmental biology, Neurons, 0303 health sciences, Mutation, Kinase, Brain, General Medicine, medicine.disease, Corpus Striatum, Cell biology, Neostriatum, Disease Models, Animal, Huntington Disease, biology.protein, General Article, Atrophy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c113292cf81a94cdb254844b76fd7fTest
https://doi.org/10.1093/hmg/ddaa061Test

المؤلفون: Jawad Ahmed, Federico Santoni, Hayriye Özkoç, Ruxandra Bachmann-Gagescu, Muhammad Ansar, Matthias Gesemann, Muhammad T. Sarwar, Vincent Zoete, Stylianos E. Antonarakis, Justyna Iwaszkiewicz, Frédéric Ebstein, Elke Krüger, Emmanuelle Ranza, Sohail A. Paracha

المصدر: Human Molecular Genetics. 29:1132-1143

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Proteasome Endopeptidase Complex, Microcephaly, Developmental Disabilities, Dwarfism, Consanguinity, Microphthalmia, PSMA5, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Genetics, medicine, Animals, Humans, Child, Molecular Biology, Zebrafish, Alleles, Genetics (clinical), biology, PSMB1, Homozygote, General Medicine, medicine.disease, biology.organism_classification, Pedigree, Phenotype, 030104 developmental biology, Proteasome, 030220 oncology & carcinogenesis, Proteasome assembly, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5173e93a082ed4ec615b4c918e0926e5Test
https://doi.org/10.1093/hmg/ddaa032Test

المؤلفون: Anna Maria Lena, E. Logli, Cristina Has, Marco D'Agostino, May El Hachem, Angelo Giuseppe Condorelli, Giovanna Zambruno, Alessandra Magenta, Eleonora Candi, Andrea Diociaiuti, Libenzio Adrian Conti, Elisa Marzuolo, Elena Dellambra, Valentina Cianfanelli

المساهمون: Logli, Elena, Marzuolo, Elisa, D'Agostino, Marco, Conti, Libenzio Adrian, Lena, Anna Maria, Diociaiuti, Andrea, Dellambra, Elena, Has, Cristina, Cianfanelli, Valentina, Zambruno, Giovanna, El Hachem, May, Magenta, Alessandra, Candi, Eleonora, Condorelli, Angelo Giuseppe

المصدر: Human molecular genetics. 31(8)

مصطلحات موضوعية: Senescence, Keratinocytes, Proteasome Endopeptidase Complex, Keratin 14, Mutant, Biology, Epidermolysis bullosa simplex, Pregnancy, Keratin, Genetics, medicine, Humans, Molecular Biology, Genetics (clinical), Cardiomyopathie, chemistry.chemical_classification, integumentary system, Epidermis (botany), General Medicine, Repressor Protein, medicine.disease, Cell biology, Repressor Proteins, medicine.anatomical_structure, chemistry, Proteasome, Epidermolysis Bullosa Simplex, Mutation, Skin Abnormalities, Keratins, Female, Keratinocyte, Cardiomyopathies, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5932fbfad65d950c805b4dbe83292dc9Test
https://pubmed.ncbi.nlm.nih.gov/34740256Test

المؤلفون: Katie G Owings, Matthew Might, Yiling Bi, Joshua B. Lowry, Clement Y. Chow

المصدر: Human Molecular Genetics. 27:1055-1066

مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Glycosylation, Developmental Disabilities, Biology, Endoplasmic-reticulum-associated protein degradation, Endoplasmic Reticulum, Acetylglucosamine, Transcriptome, 03 medical and health sciences, Congenital Disorders of Glycosylation, Downregulation and upregulation, Seizures, Genetics, Animals, Drosophila Proteins, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, NRF1, Heat shock, NGLY1, Molecular Biology, Genetics (clinical), Sequence Analysis, RNA, Endoplasmic Reticulum-Associated Degradation, Articles, General Medicine, Cell biology, Disease Models, Animal, Drosophila melanogaster, 030104 developmental biology, Proteasome, Unfolded protein response

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373bcd9658beaad9c0fadda84c6fcef3Test
https://doi.org/10.1093/hmg/ddy026Test

المؤلفون: Hongmin Wang, Alan Ross, Fangfang Qiao, Patricia C. Leiferman, Evelyn H. Schlenker, Yanying Liu

المصدر: Human Molecular Genetics. 26:4416-4428

مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Induced Pluripotent Stem Cells, Cell Cycle Proteins, FOXO1, Biology, Cell Line, 03 medical and health sciences, Neural Stem Cells, Huntington's disease, Genetics, medicine, Humans, Induced pluripotent stem cell, Molecular Biology, Protein kinase B, Genetics (clinical), Neurons, Huntingtin Protein, Forkhead Box Protein O1, Cell Differentiation, Forkhead Transcription Factors, Articles, General Medicine, medicine.disease, Neural stem cell, Cell biology, Huntington Disease, 030104 developmental biology, Proteasome, FOXO4, Stem cell, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26b31beff83d8fe2e86a74ac7da4ee73Test
https://doi.org/10.1093/hmg/ddx327Test

المؤلفون: Gloria M. Palomo, Suzanne R. Burstein, Amanjot Kaur Riar, Doris Germain, Andrea J. Arreguin, Giovanni Manfredi

المصدر: Human Molecular Genetics. 26:1318-1327

مصطلحات موضوعية: Male, 0301 basic medicine, Proteasome Endopeptidase Complex, Mitochondrial intermembrane space, animal diseases, SOD1, Biology, Mitochondrion, Mitochondrial Proteins, Mice, 03 medical and health sciences, 0302 clinical medicine, ATP-Dependent Proteases, Heat shock protein, Mitochondrial unfolded protein response, Genetics, Animals, Humans, Molecular Biology, Heat-Shock Proteins, Genetics (clinical), Sex Characteristics, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Serine Endopeptidases, Estrogen Receptor alpha, nutritional and metabolic diseases, Articles, General Medicine, High-Temperature Requirement A Serine Peptidase 2, Molecular biology, Mitochondria, nervous system diseases, Disease Models, Animal, 030104 developmental biology, Proteostasis, Proteasome, Unfolded Protein Response, Female, Estrogen receptor alpha, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9cd7ef795152a5d25f9e8ebf4da8a6Test
https://doi.org/10.1093/hmg/ddx049Test