المؤلفون: Petrova, Ralitsa, Patil, Abhijeet R., Trinh, Vivian, McElroy, Kathryn E., Bhakta, Minoti, Tien, Jason, Wilson, David S., Warren, Liling, Stratton, Jennifer R.

المصدر: Scientific Reports; 11/20/2023, Vol. 13 Issue 1, p1-18, 18p

مصطلحات موضوعية: PATHOLOGY, LABORATORY mice, ANIMAL disease models, MUCOPOLYSACCHARIDOSIS, BIOMARKERS, LYSOSOMAL storage diseases, MICE

المؤلفون: Zhu, Wei, Ou, Li, Zhang, Lin, Clark, Isaac H., Zhang, Ying, Zhu, Xiao-Hong, Whitley, Chester B., Hackett, Perry B., Low, Walter C., Chen, Wei

المصدر: Scientific Reports; 8/5/2023, Vol. 13 Issue 1, p1-11, 11p

مصطلحات موضوعية: LARGE-scale brain networks, GENE therapy, BRAIN mapping, MICE, LYSOSOMAL storage diseases, ADENO-associated virus

المؤلفون: Xiaojing Song¹, Jian Li², Miao Tian³, Huaiyi Zhu⁴, Xiaohui Hu¹, Yuting Zhang¹, Yanru Cao³, Heyang Ye², McCormick, Peter J.⁵, Bo Zeng⁶, Yang Fu³ fuy@sustech.edu.cn, Jingjing Duan⁴ duan.jingjing@ncu.edu.cn, Jin Zhang¹ zhangxiaokong@hotmail.com

المصدر: Journal of Biological Chemistry. Feb2022, Vol. 298 Issue 2, p1-11. 11p.

مصطلحات موضوعية: *ION channels, *LYSOSOMAL storage diseases, *LIPIDS, *MICE, *METABOLIC disorders, *MAMMALS

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: Rabinovich-Nikitin, Inna¹, Kirshenbaum, Lorrie A.^1,2 lkirshenbaum@sbrc.ca

المصدر: Journal of Clinical Investigation. Mar2021, Vol. 131 Issue 5, p1-3. 4p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HYPERTROPHIC cardiomyopathy, *CELL death, *HYPERTROPHIC scars, *GENETIC disorders, *ENZYME deficiency, *PROTEINS, *RESEARCH, *LYSOSOMES, *CARDIAC hypertrophy, *ANIMAL experimentation, *AUTOPHAGY, *RESEARCH methodology, *MEDICAL cooperation, *EVALUATION research, *COMPARATIVE studies, *RESEARCH funding, *MICE

المؤلفون: Shohei Ikeda^1,2, Jihoon Nah¹, Akihiro Shirakabe¹, Peiyong Zhai¹, Shin-ichi Oka¹, Sciarretta, Sebastiano^1,3,4, Kun-Liang Guan⁵, Hiroaki Shimokawa², Junichi Sadoshima¹ sadoshju@njms.rutgers.edu, Ikeda, Shohei^1,2 (AUTHOR), Nah, Jihoon¹ (AUTHOR), Shirakabe, Akihiro¹ (AUTHOR), Zhai, Peiyong¹ (AUTHOR), Oka, Shin-Ichi¹ (AUTHOR), Guan, Kun-Liang⁵ (AUTHOR), Shimokawa, Hiroaki² (AUTHOR), Sadoshima, Junichi¹ (AUTHOR)

المصدر: Journal of Clinical Investigation. Mar2021, Vol. 131 Issue 5, p1-14. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ORGANELLES, *CARDIOMYOPATHIES, *CARDIAC hypertrophy, *AUTOPHAGY, *PROTEIN metabolism, *PROTEINS, *RESEARCH, *LYSOSOMES, *LEFT ventricular dysfunction, *ANIMAL experimentation, *RESEARCH methodology, *SIGNAL peptides, *MEDICAL cooperation, *EVALUATION research, *CELLULAR signal transduction, *RATS, *COMPARATIVE studies, *TRANSFERASES, *RESEARCH funding, *TRANSCRIPTION factors, *CARRIER proteins, *MICE

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: Brudvig, Jon J, Swier, Vicki J, Johnson, Tyler B, Cain, Jacob C, Pratt, Melissa, Rechtzigel, Mitch, Leppert, Hannah, Dang Do, An N, Porter, Forbes D, Weimer, Jill M

المصدر: Biomarker Insights; 6/19/2022, Vol. 17, p1-8, 8p

مصطلحات موضوعية: CEREBROSPINAL fluid examination, BLOOD sampling, RECEIVER operating characteristic curves, CEREBROSPINAL fluid, MICE, NATURAL history, LYSOSOMAL storage diseases, NEURODEGENERATION

المؤلفون: Puissant, Emeline, Gilis, Florentine, Tevel, Virginie, Vandeweerd, Jean-Michel, Flamion, Bruno, Jadot, Michel, Boonen, Marielle

المصدر: Scientific Reports; 6/16/2022, Vol. 12 Issue 1, p1-13, 13p

مصطلحات موضوعية: MICE, KNOCKOUT mice, HYALURONIDASES, BONE remodeling, HYALURONIC acid, LYSOSOMAL storage diseases, BONE marrow

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