المؤلفون: Muenzer, Joseph¹ (AUTHOR) muenzer@med.unc.edu, Burton, Barbara K.² (AUTHOR), Amartino, Hernan M.³ (AUTHOR), Harmatz, Paul R.⁴ (AUTHOR), Gutiérrez-Solana, Luis González⁵ (AUTHOR), Ruiz-Garcia, Matilde⁶ (AUTHOR), Wu, Yuna⁷ (AUTHOR), Merberg, David⁸ (AUTHOR), Alexanderian, David^7,9 (AUTHOR), Jones, Simon A.¹⁰ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 11/16/2023, Vol. 18 Issue 1, p1-19. 19p.

مصطلحات موضوعية: *CHILD patients, *LYSOSOMAL storage diseases, *MUCOPOLYSACCHARIDOSIS, *NEURAL development, *CENTRAL nervous system

المؤلفون: Cen, Jianke, Hu, Nan, Shen, Jiawen, Gao, Yongjing, Lu, Huanjun

المصدر: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 12, p6565, 22p

مصطلحات موضوعية: ION channels, CENTRAL nervous system, LYSOSOMAL storage diseases, DRUG target, GENETIC variation, NEURODEGENERATION

المؤلفون: Bellamy, Kim K. L., Skedsmo, Fredrik S., Hultman, Josefin, Jansen, Johan Høgset, Lingaas, Frode

المصدر: Animal Genetics; Aug2024, Vol. 55 Issue 4, p612-620, 9p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, MISSENSE mutation, DOGS, LYSOSOMAL storage diseases, WHOLE genome sequencing, CENTRAL nervous system, DYSPLASIA

مصطلحات جغرافية: SUDAN

المؤلفون: Gregorio, Ilaria, Russo, Loris, Torretta, Enrica, Barbacini, Pietro, Contarini, Gabriella, Pacinelli, Giada, Bizzotto, Dario, Moriggi, Manuela, Braghetta, Paola, Papaleo, Francesco, Gelfi, Cecilia, Moro, Enrico, Cescon, Matilde

المصدر: Molecular Neurodegeneration; 3/7/2024, Vol. 19 Issue 1, p1-25, 25p

مصطلحات موضوعية: OLIGODENDROGLIA, MYELINATION, CENTRAL nervous system, HOMEOSTASIS, LYSOSOMAL storage diseases, PARKINSON'S disease, WESTERN immunoblotting

المؤلفون: Prat Castro, Sandra¹ (AUTHOR), Kudrina, Veronika¹ (AUTHOR), Jaślan, Dawid¹ (AUTHOR), Böck, Julia¹ (AUTHOR), Scotto Rosato, Anna¹ (AUTHOR) a.scottorosato@lrz.uni-muenchen.de, Grimm, Christian¹ (AUTHOR) a.scottorosato@lrz.uni-muenchen.de

المصدر: Cells (2073-4409). Sep2022, Vol. 11 Issue 18, pN.PAG-N.PAG. 11p.

مصطلحات موضوعية: *ION channels, *LYSOSOMAL storage diseases, *SMALL molecules, *CENTRAL nervous system, *EARLY death, *DRUG target

المؤلفون: Weesner, Jason Andrew^1,2 (AUTHOR), Annunziata, Ida^1,3 (AUTHOR), Yang, Tianhong⁴ (AUTHOR), Acosta, Walter⁴ (AUTHOR), Gomero, Elida¹ (AUTHOR), Hu, Huimin¹ (AUTHOR), van de Vlekkert, Diantha¹ (AUTHOR), Ayala, Jorge⁴ (AUTHOR), Qiu, Xiaohui¹ (AUTHOR), Fremuth, Leigh Ellen¹ (AUTHOR), Radin, David N.⁴ (AUTHOR), Cramer, Carole L.⁴ (AUTHOR) cramer@biostrategies-lc.com, d'Azzo, Alessandra^1,2 (AUTHOR) cramer@biostrategies-lc.com

المصدر: Cells (2073-4409). Aug2022, Vol. 11 Issue 16, p2579. 20p.

مصطلحات موضوعية: *ENZYME replacement therapy, *LYSOSOMAL storage diseases, *RICIN, *PLANT lectins, *GALACTOSIDASES, *CENTRAL nervous system, *NERVE tissue, *TREATMENT effectiveness

المؤلفون: Sato, Yuji¹ (AUTHOR) sato-yuji@jcrpharm.co.jp, Minami, Kohtaro¹ (AUTHOR), Hirato, Toru¹ (AUTHOR), Tanizawa, Kazunori¹ (AUTHOR), Sonoda, Hiroyuki¹ (AUTHOR), Schmidt, Mathias¹ (AUTHOR)

المصدر: Metabolic Brain Disease. Aug2022, Vol. 37 Issue 6, p1745-1756. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BLOOD-brain barrier, *CEREBROSPINAL fluid, *CENTRAL nervous system, *ENZYME replacement therapy, *DRUGS

المؤلفون: Vyas, Meera, Deschenes, Natalie M., Osmon, Karlaina J. L., Chen, Zhilin, Ahmad, Imtiaz, Kot, Shalini, Thompson, Patrick, Richmond, Chris, Gray, Steven J., Walia, Jagdeep S.

المصدر: International Journal of Molecular Sciences; Oct2023, Vol. 24 Issue 19, p14611, 15p

مصطلحات موضوعية: GENE therapy, GENETIC vectors, ADENOVIRUSES, FOOT & mouth disease, ADENO-associated virus, CENTRAL nervous system, LYSOSOMAL storage diseases, GANGLIOSIDES, LABORATORY mice

المؤلفون: Sangster, Madison, Shahriar, Sanjid, Niziolek, Zachary, Carisi, Maria Carla, Lewandowski, Michael, Budnik, Bogdan, Grishchuk, Yulia

المصدر: Frontiers in Molecular Neuroscience; 2023, p1-17, 17p

مصطلحات موضوعية: NEURAL stem cells, CENTRAL nervous system, PROTEOMICS, CELL populations, LYSOSOMAL storage diseases, LIPID metabolism, YOUNG adults

المؤلفون: Fujii, Takahiro¹ (AUTHOR), Tanaka, Yuta^1,2 (AUTHOR) yuta.tanaka@takeda.com, Oki, Hideyuki³ (AUTHOR), Sato, Sho⁴ (AUTHOR), Shibata, Sachio³ (AUTHOR), Maru, Takamitsu³ (AUTHOR), Tanaka, Maiko¹ (AUTHOR), Onishi, Tomohiro¹ (AUTHOR) tomohiro.onishi@takeda.com

المصدر: Journal of Neurochemistry. Nov2021, Vol. 159 Issue 3, p543-553. 11p.

مصطلحات موضوعية: *GAUCHER'S disease, *LYSOSOMAL storage diseases, *LABORATORY mice, *CENTRAL nervous system, *THERAPEUTICS