المؤلفون: Logan, Todd, Simon, Matthew J, Rana, Anil, Cherf, Gerald M, Srivastava, Ankita, Davis, Sonnet S, Low, Ray Lieh Yoon, Chiu, Chi-Lu, Fang, Meng, Huang, Fen, Bhalla, Akhil, Llapashtica, Ceyda, Prorok, Rachel, Pizzo, Michelle E, Calvert, Meredith EK, Sun, Elizabeth W, Hsiao-Nakamoto, Jennifer, Rajendra, Yashas, Lexa, Katrina W, Srivastava, Devendra B, van Lengerich, Bettina, Wang, Junhua, Robles-Colmenares, Yaneth, Kim, Do Jin, Duque, Joseph, Lenser, Melina, Earr, Timothy K, Nguyen, Hoang, Chau, Roni, Tsogtbaatar, Buyankhishig, Ravi, Ritesh, Skuja, Lukas L, Solanoy, Hilda, Rosen, Howard J, Boeve, Bradley F, Boxer, Adam L, Heuer, Hilary W, Dennis, Mark S, Kariolis, Mihalis S, Monroe, Kathryn M, Przybyla, Laralynne, Sanchez, Pascal E, Meisner, Rene, Diaz, Dolores, Henne, Kirk R, Watts, Ryan J, Henry, Anastasia G, Gunasekaran, Kannan, Astarita, Giuseppe, Suh, Jung H, Lewcock, Joseph W, DeVos, Sarah L, Di Paolo, Gilbert

المصدر: Cell. 184(18)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Rare Diseases, Alzheimer's Disease Related Dementias (ADRD), Frontotemporal Dementia (FTD), Neurodegenerative, Dementia, Acquired Cognitive Impairment, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Biological Products, Bone Morphogenetic Proteins, Brain, Endosomes, Female, Frontotemporal Dementia, Gliosis, Humans, Induced Pluripotent Stem Cells, Inflammation, Lipid Metabolism, Lipofuscin, Lysosomal Storage Diseases, Lysosomes, Macrophages, Male, Membrane Glycoproteins, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microglia, Nerve Degeneration, Phenotype, Progranulins, Receptors, Immunologic, Receptors, Transferrin, Tissue Distribution, GBA, LBPA, galectin-3, lipidomics, lipids, lipofuscin, lysobisphosphatidic acid, lysosome, metabolomics, neurodegenerative disease, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5d1190fpTest

المؤلفون: Nicoli, Elena-Raluca, Weston, Mary, Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih, Baker, Peter, Burke, John, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David, Zerfas, Patricia, Chen, Dong, Markello, Thomas, Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa, Tifft, Cynthia, Gahl, William, Day-Salvatore, Debra, Mindell, Joseph, Malicdan, May

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xp9k0xsTest

المؤلفون: Duleh, Steve, Wang, Xianhong, Komirenko, Allison, Margeta, Marta

المصدر: Acta Neuropathologica Communications. 4(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Clinical Research, Adult, Aged, Aged, 80 and over, Animals, Autophagy, Cell Line, Cohort Studies, Female, Humans, Kelch-Like ECH-Associated Protein 1, Lysosomal Storage Diseases, Male, Mice, Middle Aged, Muscle, Skeletal, Muscular Diseases, Myositis, Inclusion Body, NF-E2-Related Factor 2, Protein Aggregation, Pathological, Sequestosome-1 Protein, Signal Transduction, Young Adult, Stress response signaling, Keap1, Nrf2, Hydroxychloroquine, Colchicine, Toxic myopathy, Vacuolar myopathy, Inclusion body myositis, Clinical Sciences, Neurosciences, Biochemistry and cell biology

الوصول الحر: https://escholarship.org/uc/item/69f0n56qTest

المؤلفون: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

المصدر: Journal of Medical Genetics. 53(6)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2g54h4x6Test

المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

المصدر: Nature Genetics. 47(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/57n4q5z6Test

المؤلفون: Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños

المساهمون: European Commission, Agencia Estatal de Investigación (España), Instituto de Salud Carlos III, Junta de Castilla y León, Fundación BBVA, Fundación Ramón Areces, Lopez-Fabuel, I., Garcia-Macia, M., Buondelmonte, C., Burmistrova, O., Bonora, N., Alonso-Batan, P., Morant-Ferrando, B., Vicente-Gutierrez, C., Jimenez-Blasco, D., Quintana-Cabrera, R., Fernandez, E., Llop, J., Ramos-Cabrer, P., Sharaireh, A., Guevara-Ferrer, M., Fitzpatrick, L., Thompton, C. D., Mckay, T. R., Storch, S., MEDINA SANABRIA, Diego Lui, Mole, S. E., Fedichev, P. O., Almeida, A., Bolanos, J. P.

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications

مصطلحات موضوعية: Male, Phosphofructokinase-2, Science, General Physics and Astronomy, Membrane Transport Protein, Lysosome-Associated Membrane Glycoprotein, Molecular neuroscience, General Biochemistry, Genetics and Molecular Biology, Article, Mice, Lysosomal Storage Disease, Neuronal Ceroid-Lipofuscinoses, Autophagy, Animals, Humans, Neurons, Multidisciplinary, Animal, Lysosome-Associated Membrane Glycoproteins, Membrane Transport Proteins, General Chemistry, Neuron, Lysosome, Mitochondria, Up-Regulation, Lysosomal Storage Diseases, Mice, Inbred C57BL, Disease Models, Animal, Mechanisms of disease, Child, Preschool, Female, Neuronal Ceroid-Lipofuscinose, Lysosomes, Neurological disorders, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c646c3f91c4f2ae3f22b4ced9e7be27Test
https://doaj.org/article/3a651b3190b84e729467d309cc661713Test

المؤلفون: Malte Lenders, Eva Brand

المصدر: Drugs

مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cardiomyopathy, Globotriaosylceramide, Review Article, chemistry.chemical_compound, Pharmacotherapy, Risk Factors, Internal medicine, medicine, Humans, Pharmacology (medical), Clinical significance, Enzyme Replacement Therapy, chemistry.chemical_classification, biology, business.industry, Trihexosylceramides, Cardiac arrhythmia, nutritional and metabolic diseases, medicine.disease, Fabry disease, Antibodies, Neutralizing, Recombinant Proteins, Injection Site Reaction, Isoenzymes, Lysosomal Storage Diseases, Enzyme, chemistry, alpha-Galactosidase, Antibody Formation, biology.protein, Fabry Disease, Antibody, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c352c03593c70b37556dbc3d2076c00Test
http://europepmc.org/articles/PMC8602155Test

المؤلفون: Norio Sakai, Yoko Lee, Kazuya Tsuboi, Junko Matsuda, Naoko Kakee, Koji Kato, Yoshikatsu Eto, Nobuyuki Shimozawa, Ritei Uehara, Yuta Koto, Yoshikazu Nakamura, Torayuki Okuyama, Kimitoshi Nakamura, Hiroshi Kobayashi, Aya Narita

المصدر: Molecular Genetics and Metabolism. 133:277-288

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Biochemistry, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Japan, Surveys and Questionnaires, Peroxisomal disorder, Mucopolysaccharidosis I, Prevalence, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Medical history, Child, Molecular Biology, Aged, Aged, 80 and over, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Metachromatic leukodystrophy, Child, Preschool, Epidemiological Monitoring, Female, Adrenoleukodystrophy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ef9b80e1feb822e36d89cba3ee6eccTest
https://doi.org/10.1016/j.ymgme.2021.05.004Test

المؤلفون: Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı

المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:539-545

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Dose, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Cost of Illness, Surveys and Questionnaires, Pandemic, Epidemiology, medicine, Humans, Enzyme Replacement Therapy, Young adult, Child, SARS-CoV-2, business.industry, COVID-19, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22b7a1245eb644c4bba199de77e5f49Test
https://doi.org/10.1515/jpem-2021-0067Test

المؤلفون: Patricia N. Sidharta, Martine Gehin, Jasper Dingemanse, Meggane Melchior, Richard W. D. Welford

المصدر: Clinical and Translational Science, Vol 14, Iss 2, Pp 558-567 (2021)
Clinical and Translational Science

مصطلحات موضوعية: Adult, Male, Iminosugar, Globotriaosylceramide, Administration, Oral, Pharmacology, General Biochemistry, Genetics and Molecular Biology, Article, Placebos, Lactosylceramide, chemistry.chemical_compound, Young Adult, Pharmacokinetics, Double-Blind Method, Piperidines, Medicine, Potency, Humans, Dosing, General Pharmacology, Toxicology and Pharmaceutics, music, music.instrument, Dose-Response Relationship, Drug, business.industry, General Neuroscience, Research, lcsh:Public aspects of medicine, lcsh:RM1-950, lcsh:RA1-1270, General Medicine, Articles, Middle Aged, Healthy Volunteers, Imino Sugars, Lysosomal Storage Diseases, lcsh:Therapeutics. Pharmacology, chemistry, Tolerability, Glucosyltransferases, Pharmacodynamics, Glucosylceramidase, Female, business, Half-Life

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b962fcb71eb0ac11aa47a8c3cb84bd22Test
https://doaj.org/article/ed04fd0658df4e82b8e0c214c3adc261Test