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: Showalter, Megan R, Berg, Anastasia L, Nagourney, Alexander, Heil, Hailey, Carraway, Kermit L, Fiehn, Oliver

المصدر: International Journal of Molecular Sciences. 21(21)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Brain Disorders, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Humans, Lysophospholipids, Lysosomal Storage Diseases, Lysosomes, Monoglycerides, bis(monoacylglycero)phosphate, lysobisphophatidic acid, lysosome, lipidomics, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics, Biochemistry and cell biology, Microbiology, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7j45s3hnTest

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: Murphy, John T.¹, Liu, Haiyan^1,2, Ma, Xiucui^1,2, Shaver, Alex¹, Egan, Brian M.^1,3, Oh, Clara¹, Boyko, Alexander¹, Mazer, Travis¹, Ang, Samuel¹, Khopkar, Rohan¹, Javaheri, Ali¹, Kumar, Sandeep³, Jiang, Xuntian¹, Ory, Daniel¹, Mani, Kartik^1,2, Matkovich, Scot J.¹, Kornfeld, Kerry³, Diwan, Abhinav^1,2,4 adiwan@wustl.edu

المصدر: PLoS Biology. 5/14/2019, Vol. 17 Issue 5, p1-42. 42p. 1 Color Photograph, 1 Diagram, 6 Graphs.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ORGANELLES, *ORIGIN of life, *LIPASES, *LIPID metabolism

المؤلفون: Kishnani, Priya S, Dickson, Patricia I, Muldowney, Laurie, Lee, Jessica J, Rosenberg, Amy, Abichandani, Rekha, Bluestone, Jeffrey A, Burton, Barbara K, Dewey, Maureen, Freitas, Alexandra, Gavin, Derek, Griebel, Donna, Hogan, Melissa, Holland, Stephen, Tanpaiboon, Pranoot, Turka, Laurence A, Utz, Jeanine J, Wang, Yow-Ming, Whitley, Chester B, Kazi, Zoheb B, Pariser, Anne R

المصدر: Molecular Genetics and Metabolism. 117(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Orphan Drug, Rare Diseases, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Inflammatory and immune system, Animals, Enzyme Replacement Therapy, Humans, Hydrolases, Immune Tolerance, Lysosomal Storage Diseases, Recombinant Proteins, Immune tolerance, Lysosomal storage diseases, Enzyme replacement therapy, Inborn errors of metabolism, Neutralizing antibodies, Orphan drugs, Rare diseases, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59n944htTest

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: Shin, TH, Lee, G

المساهمون: 104466, Lee, G

مصطلحات موضوعية: Amyloid beta-Peptides, Amyloidosis, Animals, Citrates, Lysosomal Storage Diseases, Lysosomes, Magnetite Nanoparticles, Mice, Microglia, Reactive Oxygen Species, Silicon Dioxide, Alzheimer’s disease, Amyloid beta, Integrated omics, Machine learning, Nanotoxicity, Silica-coated magnetic nanoparticles

العلاقة: J003405761; http://repository.ajou.ac.kr/handle/201003/32177Test; Archives of toxicology, 98(1). : 121-134, 2024

الإتاحة: https://doi.org/10.1007/s00204-023-03612-2Test
http://repository.ajou.ac.kr/handle/201003/32177Test

المؤلفون: Berdowski, Woutje M, van der Linde, Herma C, Breur, Marjolein, Oosterhof, Nynke, Beerepoot, Shanice, Sanderson, Leslie, Wijnands, Lieve I, de Jong, Patrick, Tsai-Meu-Chong, Elisa, de Valk, Walter, de Witte, Moniek, van IJcken, Wilfred F J, Demmers, Jeroen, van der Knaap, Marjo S, Bugiani, Marianna, Wolf, Nicole I, van Ham, Tjakko J

المساهمون: CTI De Witte, MS Hematologie, Infection & Immunity, Regenerative Medicine and Stem Cells, Cancer

مصطلحات موضوعية: Adult, Animals, Astrocytes/pathology, Demyelinating Diseases/pathology, Humans, Leukoencephalopathies/genetics, Lysosomal Storage Diseases/metabolism, Microglia/pathology, Neurodegenerative Diseases/pathology, Phenotype, Receptor Protein-Tyrosine Kinases/genetics, Zebrafish, Zebrafish Proteins/metabolism, CSF1R, Astrocytes, Leukodystrophy, Microglia, ALSP, Zebrafish models, Clinical Neurology, Cellular and Molecular Neuroscience, Pathology and Forensic Medicine, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/447505Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/447505Test

المؤلفون: López Fabuel, Irene, García Macia, Marina, Buondelmonte, Costantina, Burmistrova, Olga, Bonora, Nicoló, Alonso-Batán, Paula, Morant Ferrando, Brenda, Vicente Gutiérrez, Carlos, Jiménez Blasco, Daniel, Quintana Cabrera, Rubén, Fernández Sánchez, Emilio, Llop, Jordi, Ramos-Cabrer, Pedro, Sharaireh, Aseel, Guevara-Ferrer, Marta, Fitzpatrick, Lorna, Thompton, Christopher D, McKay, Tristan R, Storch, Stephan, Medina, Diego L, Mole, Sara E, Fedichev, Peter O, Almeida Parra, María Ángeles, Bolaños Hernández, Juan Pedro

مصطلحات موضوعية: Glycolytic enzyme PFKFB3, CLN7 neuronal ceroid lipofuscinosis, Membrane Transport Proteins, Neurons, Mitochondria, Neuronal Ceroid-Lipofuscinoses, Phosphofructokinase-2, Animals, Humans, Up-Regulation, Lysosomal Storage Diseases, Autophagy, Lysosomes, Mice, lipofuscinosis ceroide neuronal, fosfofructocinasa 2, mitocondrias, animales, humanos, enfermedades por almacenamiento lisosómico, ratones, neuronas, regulación positiva, autofagia, proteínas de transporte de membrana, lisosomas

العلاقة: https://www.nature.com/articles/s41467-022-28191-1Test; PID2019-105699RB-I00; Lopez-Fabuel, I., Garcia-Macia, M., Buondelmonte, C., Burmistrova, O., Bonora, N., Alonso-Batan, P., . & Bolaños, J. P. (2022). Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications, 13(1), 536.; http://hdl.handle.net/10366/154930Test

الإتاحة: https://doi.org/10.1038/s41467-022-28191-1Test
http://hdl.handle.net/10366/154930Test

المؤلفون: Jolly, RD, Dittmer, KE, Jones, BR, Worth, AJ, Thompson, KG, Johnstone, AC, Palmer, DN, Van de Water, NS, Hemsley, KM, Garrick, DJ, Winchester, BG, Walkley, SU

المصدر: New Zealand Veterinary Journal; Sep2021, Vol. 69 Issue 5, p255-266, 12p

مصطلحات موضوعية: MEDICAL genetics, GENETIC disorders, ANIMAL genetics, ANIMAL diseases, VETERINARY medicine, LYSOSOMAL storage diseases

مصطلحات جغرافية: PALMERSTON North (N.Z.)

الشركة/الكيان: MASSEY University