المؤلفون: Chao Wang, William E. Balch, Samantha M. Scott, Jason E. Gestwicki, Pei Zhao, Hao Shao, Darren M. Hutt, Shuhong Sun

المصدر: Hum Mol Genet
Human molecular genetics, vol 29, iss 1

مصطلحات موضوعية: Endosome, Population, Endosomes, Endoplasmic Reticulum, Type C, Medical and Health Sciences, Article, 03 medical and health sciences, Cytosol, 0302 clinical medicine, Allosteric Regulation, Niemann-Pick C1 Protein, Niemann-Pick Disease, hemic and lymphatic diseases, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, HSP70 Heat-Shock Proteins, Aetiology, education, Molecular Biology, Genetics (clinical), 030304 developmental biology, Genetics & Heredity, 0303 health sciences, education.field_of_study, biology, Endoplasmic reticulum, Neurodegeneration, Genetic Variation, Niemann-Pick Disease, Type C, General Medicine, Biological Sciences, medicine.disease, Transmembrane protein, Cell biology, Cholesterol, Proteostasis, Chaperone (protein), biology.protein, NPC1, Lysosomes, 030217 neurology & neurosurgery, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3485d026aad5866014bcd48830c392f
https://doi.org/10.1093/hmg/ddz215

المؤلفون: Sarah Rixham, Francesca Oltrabella, Tobias Starborg, Martin Lowe, Guanhua Yan, Anthony Jackson-Crawford

المصدر: Human molecular genetics. 31(8)

مصطلحات موضوعية: Male, Endosome, Inositol Phosphates, Endocytic cycle, Endosomes, urologic and male genital diseases, Endocytosis, Kidney Tubules, Proximal, Tubulopathy, Genetics, medicine, Animals, Humans, Molecular Biology, Zebrafish, Genetics (clinical), biology, Proteins, General Medicine, Zebrafish Proteins, Cubilin, biology.organism_classification, medicine.disease, Phosphoric Monoester Hydrolases, Cell biology, Low Density Lipoprotein Receptor-Related Protein-2, Tubule, Oculocerebrorenal Syndrome, OCRL, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4919b120ab24e19b42a4a8d71a5829ae
https://pubmed.ncbi.nlm.nih.gov/34673953

المؤلفون: Laura Fort-Aznar, Chris Ugbode, Sean T. Sweeney

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Nervous system, AcademicSubjects/SCI01140, amyotrophic lateral sclerosis, Vesicular Transport Proteins, Repressor, Endosomes, frontotemporal dementia, 03 medical and health sciences, 0302 clinical medicine, Retrovirus, mental disorders, Genetics, medicine, Dementia, Animals, Drosophila Proteins, Humans, Amyotrophic lateral sclerosis, Molecular Biology, Genetics (clinical), Neurons, biology, Endosomal Sorting Complexes Required for Transport, gypsy, General Medicine, biology.organism_classification, medicine.disease, Phenotype, Introns, Rats, DNA-Binding Proteins, retrovirus, Disease Models, Animal, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Drosophila melanogaster, Retroviridae, Gene Expression Regulation, Mutation, RNA, Drosophila, General Article, 030217 neurology & neurosurgery, Genetic screen, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d8ca108912d91d9a1a0619bbfa42a2
https://pubmed.ncbi.nlm.nih.gov/32628265

المؤلفون: Yi Chun Yeh, Holger Kramer, Yu-Ping Lin, Anant B. Parekh

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, ORAI1 Protein, Endosome, Endosomes, Biology, Polymorphism, Single Nucleotide, Exocytosis, Dermatitis, Atopic, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, Extracellular, Humans, Calcium Signaling, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, ORAI1, Cell Membrane, Wild type, Protein turnover, Membrane Proteins, rab7 GTP-Binding Proteins, General Medicine, Cell biology, HEK293 Cells, Gene Expression Regulation, rab GTP-Binding Proteins, Proteolysis, Calcium, Rab, General Article, Lysosomes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9916f00302fcec5de53b751876aefb81
http://ora.ox.ac.uk/objects/uuid:

المؤلفون: Kiyotoshi Sekiguchi, Michinori Ezura, Naoto Sugeno, Akemi Ido-Fujibayashi, Mitsunori Fukuda, Mari Suzuki, Takafumi Hasegawa, Masashi Aoki, Toru Baba, Atsushi Takeda, Yoshitaka Nagai, Morio Ueyama, Akio Kikuchi, Junpei Kobayashi, Hideki Mochizuki, Shun Yoshida

المصدر: Human Molecular Genetics. 27:823-836

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, Endosome, Transgene, Mutant, Endosomes, Biology, Eye, Animals, Genetically Modified, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Intermediate Filament Proteins, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Alpha-synuclein, Dopaminergic Neurons, Neurodegeneration, Neurotoxicity, Biological Transport, Parkinson Disease, General Medicine, medicine.disease, Phenotype, Actins, Cell biology, 030104 developmental biology, chemistry, COS Cells, Mutation, Drosophila, Neurotoxicity Syndromes, Locomotion, 030217 neurology & neurosurgery, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4c5fd4432008446fe6620b801d36d9
https://doi.org/10.1093/hmg/ddy003

المؤلفون: Yu Young Jeong, Daniyal Aikal, Prasad Tammineni, Qian Cai, Tuancheng Feng

المصدر: Human Molecular Genetics. 26:4352-4366

مصطلحات موضوعية: 0301 basic medicine, Retromer, Endosome, Vesicular Transport Proteins, Golgi Apparatus, Cellular homeostasis, Mice, Transgenic, Endosomes, Biology, Axonal Transport, Amyloid beta-Protein Precursor, Mice, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Lysosome, Genetics, medicine, Amyloid precursor protein, Animals, Humans, Axon, Molecular Biology, Genetics (clinical), Neurons, Articles, General Medicine, Axons, Cell biology, Retromer complex, 030104 developmental biology, medicine.anatomical_structure, nervous system, Proteolysis, Axoplasmic transport, biology.protein, Amyloid Precursor Protein Secretases, Lysosomes, 030217 neurology & neurosurgery, trans-Golgi Network

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413d82d7a5af954b5f204de9e80d2c0f
https://doi.org/10.1093/hmg/ddx321

المؤلفون: Yuka Hosaka, Takako Morimoto, Yujiro Umezaki, Taku Arano, Hongrui Meng, Tsuyoshi Inoshita, Yuzuru Imai, Hui-Yun Chang, Nobutaka Hattori, Sakiko Kosugi, Masato Koike

المصدر: Human Molecular Genetics. 26:2933-2948

مصطلحات موضوعية: 0301 basic medicine, Retromer, Endosome, Dopamine, Vesicular Transport Proteins, Endosomes, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Synaptic Transmission, Synaptic vesicle, Bulk endocytosis, Animals, Genetically Modified, 03 medical and health sciences, VPS35, 0302 clinical medicine, Genetics, Animals, Drosophila Proteins, Humans, Synaptic vesicle recycling, Molecular Biology, Genetics (clinical), Synaptic vesicle endocytosis, Dopaminergic Neurons, Parkinson Disease, General Medicine, LRRK2, Endocytosis, nervous system diseases, Cell biology, 030104 developmental biology, Mutation, Drosophila, Synaptic Vesicles, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7fc43f2d07da134f23160eb0df425e9
https://doi.org/10.1093/hmg/ddx179

المؤلفون: Alessandro Luciani, Marijana Samardzija, Leopoldo Staiano, Alkaly Gassama, Marine Berquez, Hesham M. Ismail, Christian Grimm, Robert L. Nussbaum, Maria Antonietta De Matteis, Olivier Devuyst, Beatrice Paola Festa, Irmgard Amrein, Olivier M. Dorchies, David P. Wolfer, Leonardo Scapozza

المساهمون: Festa, Beatrice Paola, Berquez, Marine, Gassama, Alkaly, Amrein, Irmgard, Ismail, Hesham M, Samardzija, Marijana, Staiano, Leopoldo, Luciani, Alessandro, Grimm, Christian, Nussbaum, Robert L, De Matteis, Maria Antonietta, Dorchies, Olivier M, Scapozza, Leonardo, Wolfer, David Paul, Devuyst, Olivier, University of Zurich

المصدر: Human Molecular Genetics, 28 (12)
Human Molecular Genetics
Hum Mol Genet

مصطلحات موضوعية: Phosphatidylinositol 4,5-Diphosphate, 0301 basic medicine, 10017 Institute of Anatomy, Endocytic cycle, 030232 urology & nephrology, Dent Disease, Kidney, 10052 Institute of Physiology, Kidney Tubules, Proximal, Mice, 0302 clinical medicine, Genetics(clinical), 10064 Neuroscience Center Zurich, Cells, Cultured, Genetics (clinical), Mice, Knockout, Dent's disease, General Medicine, LRP2, Endocytosis, Low Density Lipoprotein Receptor-Related Protein-2, medicine.anatomical_structure, 10076 Center for Integrative Human Physiology, General Article, Locomotion, 10018 Ophthalmology Clinic, 2716 Genetics (clinical), Oculocerebrorenal syndrome, 610 Medicine & health, Mice, Transgenic, Endosomes, Biology, 03 medical and health sciences, 1311 Genetics, Chloride Channels, 1312 Molecular Biology, Genetics, medicine, Animals, Humans, Molecular Biology, medicine.disease, Actins, Phosphoric Monoester Hydrolases, Disease Models, Animal, Oculocerebrorenal Syndrome, 030104 developmental biology, Mutation, Humanized mouse, Cancer research, 570 Life sciences, biology, OCRL, Lysosomes

وصف الملف: application/application/pdf; ddy449.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060c44697fc8db21e80ab8224002b3cd
https://doi.org/10.1093/hmg/ddy449

المؤلفون: Lei Pan, Koichiro Abe, Masayuki Yamamoto, Huifang Shang, Asako Otomo, Masashi Aoki, Mizuki Kubo, Kai Sato, Tetsuro Ishii, Xue Ping Chen, Suzuka Ono, Wakana Onodera, Eiji Warabi, Fumihito Yoshii, Yasuo Uchiyama, Toru Yanagawa, Shun Mitsui, Masato Koike, Shinji Hadano

المصدر: Human Molecular Genetics. 25:3321-3340

مصطلحات موضوعية: 0301 basic medicine, NF-E2-Related Factor 2, Transgene, SOD1, Mutation, Missense, Mice, Transgenic, Endosomes, Biology, medicine.disease_cause, Pathogenesis, Mice, 03 medical and health sciences, Superoxide Dismutase-1, 0302 clinical medicine, Sequestosome-1 Protein, Autophagy, Genetics, medicine, Animals, Guanine Nucleotide Exchange Factors, Humans, Amyotrophic lateral sclerosis, Molecular Biology, Genetics (clinical), Motor Neurons, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Brain, General Medicine, medicine.disease, NFE2L2, Cell biology, 030104 developmental biology, Proteostasis, Immunology, Lysosomes, 030217 neurology & neurosurgery, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c643aef21ae4d6a7db6860d48c2e404a
https://doi.org/10.1093/hmg/ddw180

المؤلفون: Maria Teresa Fiorenza, Enrico Moro, Robert P. Erickson

المصدر: Human molecular genetics. 27(R2)

مصطلحات موضوعية: 0301 basic medicine, Neuroimmunomodulation, mucopolysacchardosis type II, lysosomal stoarge disorders, Endosomes, Biology, pathogenesis, lysosomal stoarge disorders, signaling, Niemann-Pick C diseases, Pathogenesis, sonic hedgehog, 03 medical and health sciences, autophagy, mitophagy, 0302 clinical medicine, Mitophagy, Genetics, medicine, Autophagy, Animals, Homeostasis, Humans, Hedgehog Proteins, Mucopolysaccharidosis type II, Molecular Biology, Wnt Signaling Pathway, Genetics (clinical), Neuroinflammation, Glycosaminoglycans, Mucopolysaccharidosis II, Microglia, pathogenesis, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Endocytosis, Cell biology, Lysosomal Storage Diseases, 030104 developmental biology, medicine.anatomical_structure, Cholesterol, Niemann–Pick disease, signaling, Lysosomes, 030217 neurology & neurosurgery, Morphogen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dabf6f5aa0a5b2fa1cc2c669d7c622e
https://pubmed.ncbi.nlm.nih.gov/29718288