Статті в журналах з теми "Lysosomal storage diseases"
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Xu, Miao, Ke Liu, Manju Swaroop, Wei Sun, Seameen J. Dehdashti, John C. McKew, and Wei Zheng. "A Phenotypic Compound Screening Assay for Lysosomal Storage Diseases." Journal of Biomolecular Screening 19, no. 1 (August 27, 2013): 168–75. http://dx.doi.org/10.1177/1087057113501197.
Schulze, M., S. Groeschel, J. Gburek-Augustat, T. Nägele, and M. Horger. "Lysosomal Storage Diseases – Lysosomale Speichererkrankungen." RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren 187, no. 12 (November 26, 2015): 1057–60. http://dx.doi.org/10.1055/s-0035-1552368.
Simonaro, Calogera M. "Lysosomes, Lysosomal Storage Diseases, and Inflammation." Journal of Inborn Errors of Metabolism and Screening 4 (May 14, 2016): 232640981665046. http://dx.doi.org/10.1177/2326409816650465.
Breiden, Bernadette, and Konrad Sandhoff. "Lysosomal Glycosphingolipid Storage Diseases." Annual Review of Biochemistry 88, no. 1 (June 20, 2019): 461–85. http://dx.doi.org/10.1146/annurev-biochem-013118-111518.
Ferreira, Carlos R., and William A. Gahl. "Lysosomal storage diseases." Translational Science of Rare Diseases 2, no. 1-2 (May 25, 2017): 1–71. http://dx.doi.org/10.3233/trd-160005.
Rose Georgy, Smitha. "Lysosomal storage diseases." Journal of Veterinary and Animal Sciences 52, no. 1 (January 1, 2021): 1–6. http://dx.doi.org/10.51966/jvas.2021.52.1.1-6.
Neufeld, Elizabeth F. "Lysosomal Storage Diseases." Annual Review of Biochemistry 60, no. 1 (June 1991): 257–80. http://dx.doi.org/10.1146/annurev.bi.60.070191.001353.
Alroy, Joseph, and Jeremiah A. Lyons. "Lysosomal Storage Diseases." Journal of Inborn Errors of Metabolism and Screening 2 (March 7, 2014): 232640981351766. http://dx.doi.org/10.1177/2326409813517663.
Richtsfeld, Martina, and Kumar G. Belani. "Lysosomal Storage Diseases." Anesthesia & Analgesia 125, no. 3 (September 2017): 716–18. http://dx.doi.org/10.1213/ane.0000000000001887.
Gieselmann, Volkmar. "Lysosomal storage diseases." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1270, no. 2-3 (April 1995): 103–36. http://dx.doi.org/10.1016/0925-4439(94)00075-2.
Kaye, Edward M. "Lysosomal storage diseases." Current Treatment Options in Neurology 3, no. 3 (May 2001): 249–56. http://dx.doi.org/10.1007/s11940-001-0006-9.
Gorbunova, Victoria N. "Congenital metabolic diseases. Lysosomal storage diseases." Pediatrician (St. Petersburg) 12, no. 2 (August 11, 2021): 73–83. http://dx.doi.org/10.17816/ped12273-83.
Onyenwoke, Rob U., and Jay E. Brenman. "Lysosomal Storage Diseases-Regulating Neurodegeneration." Journal of Experimental Neuroscience 9s2 (January 2015): JEN.S25475. http://dx.doi.org/10.4137/jen.s25475.
Zeng, Wenping, Canjun Li, Ruikun Wu, Xingguo Yang, Qingyan Wang, Bingqian Lin, Yanan Wei, et al. "Optogenetic manipulation of lysosomal physiology and autophagy-dependent clearance of amyloid beta." PLOS Biology 22, no. 4 (April 23, 2024): e3002591. http://dx.doi.org/10.1371/journal.pbio.3002591.
Vogler, Carole, and Harvey S. Rosenberg. "Electron Microscopy in the diagnosis of lysosomal storage diseases." Proceedings, annual meeting, Electron Microscopy Society of America 47 (August 6, 1989): 866–67. http://dx.doi.org/10.1017/s0424820100156316.
Heard, Jean Michel, Julie Bruyère, Elise Roy, Stéphanie Bigou, Jérôme Ausseil, and Sandrine Vitry. "Storage problems in lysosomal diseases." Biochemical Society Transactions 38, no. 6 (November 24, 2010): 1442–47. http://dx.doi.org/10.1042/bst0381442.
Platt, Frances M., Barry Boland, and Aarnoud C. van der Spoel. "Lysosomal storage disorders: The cellular impact of lysosomal dysfunction." Journal of Cell Biology 199, no. 5 (November 26, 2012): 723–34. http://dx.doi.org/10.1083/jcb.201208152.
Schulze, H., and K. Sandhoff. "Lysosomal Lipid Storage Diseases." Cold Spring Harbor Perspectives in Biology 3, no. 6 (April 18, 2011): a004804. http://dx.doi.org/10.1101/cshperspect.a004804.
Schultz, Mark L., Luis Tecedor, Michael Chang, and Beverly L. Davidson. "Clarifying lysosomal storage diseases." Trends in Neurosciences 34, no. 8 (August 2011): 401–10. http://dx.doi.org/10.1016/j.tins.2011.05.006.
Martina, José A., Nina Raben, and Rosa Puertollano. "SnapShot: Lysosomal Storage Diseases." Cell 180, no. 3 (February 2020): 602–602. http://dx.doi.org/10.1016/j.cell.2020.01.017.
Werber, Yaron. "Lysosomal storage diseases market." Nature Reviews Drug Discovery 3, no. 1 (January 2004): 9–10. http://dx.doi.org/10.1038/nrd1286.
Morand, Olivier, and Hélène Peyro-Saint-Paul. "Lysosomal storage diseases market." Nature Reviews Drug Discovery 3, no. 1 (January 2004): 98. http://dx.doi.org/10.1038/nrd1286-c2.
Maegawa, Gustavo H. B. "Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities." Journal of Child Neurology 34, no. 6 (February 13, 2019): 339–58. http://dx.doi.org/10.1177/0883073819828587.
Winchester, B., A. Vellodi, and E. Young. "The molecular basis of lysosomal storage diseases and their treatment." Biochemical Society Transactions 28, no. 2 (February 1, 2000): 150–54. http://dx.doi.org/10.1042/bst0280150.
De Pasquale, Valeria, Melania Scarcella, and Luigi Michele Pavone. "Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies." Biomedicines 10, no. 4 (April 17, 2022): 922. http://dx.doi.org/10.3390/biomedicines10040922.
Seranova, Elena, Kyle J. Connolly, Malgorzata Zatyka, Tatiana R. Rosenstock, Timothy Barrett, Richard I. Tuxworth, and Sovan Sarkar. "Dysregulation of autophagy as a common mechanism in lysosomal storage diseases." Essays in Biochemistry 61, no. 6 (December 12, 2017): 733–49. http://dx.doi.org/10.1042/ebc20170055.
Tikkanen, Ritva. "A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders." Cells 11, no. 1 (December 23, 2021): 36. http://dx.doi.org/10.3390/cells11010036.
Gorbunova, Viktoria N., Natalia V. Buchinskaia, Lidia V. Liazina, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Sphingolipidoses — gangliosidoses." Pediatrician (St. Petersburg) 14, no. 4 (November 23, 2023): 93–111. http://dx.doi.org/10.17816/ped14493-111.
Bobillo Lobato, Joaquin, Maria Jiménez Hidalgo, and Luis Jiménez Jiménez. "Biomarkers in Lysosomal Storage Diseases." Diseases 4, no. 4 (December 17, 2016): 40. http://dx.doi.org/10.3390/diseases4040040.
Scarpa, Maurizio, and Yoshikatsu Eto. "Lysosomal storage diseases: new challenges." Acta Paediatrica 97, s457 (April 2008): 5–6. http://dx.doi.org/10.1111/j.1651-2227.2008.00645.x.
Rapola, J. "Lysosomal Storage Diseases in Adults." Pathology - Research and Practice 190, no. 8 (September 1994): 759–66. http://dx.doi.org/10.1016/s0344-0338(11)80422-x.
Rama Rao, K. V., and T. Kielian. "Astrocytes and lysosomal storage diseases." Neuroscience 323 (May 2016): 195–206. http://dx.doi.org/10.1016/j.neuroscience.2015.05.061.
Jolly, Robert D. "Lysosomal Storage Diseases in Livestock." Veterinary Clinics of North America: Food Animal Practice 9, no. 1 (March 1993): 41–53. http://dx.doi.org/10.1016/s0749-0720(15)30670-8.
Gorbunova, Victoria N., Natalia V. Buchinskaia, Anastasia O. Vechkasova, and Varvara S. Kruglova. "Lysosomal storage diseases. Sphingolipidoses – leukodystrophy." Pediatrician (St. Petersburg) 14, no. 6 (May 7, 2024): 89–112. http://dx.doi.org/10.17816/ped626382.
Fernández-Pereira, Carlos, Beatriz San Millán-Tejado, María Gallardo-Gómez, Tania Pérez-Márquez, Marta Alves-Villar, Cristina Melcón-Crespo, Julián Fernández-Martín, and Saida Ortolano. "Therapeutic Approaches in Lysosomal Storage Diseases." Biomolecules 11, no. 12 (November 26, 2021): 1775. http://dx.doi.org/10.3390/biom11121775.
Gorbunova, V. N., and N. V. Buchinskaya. "Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome." Pediatrician (St. Petersburg) 12, no. 4 (December 13, 2021): 69–81. http://dx.doi.org/10.17816/ped12469-81.
van Eijk, Marco, Maria J. Ferraz, Rolf G. Boot, and Johannes M. F. G. Aerts. "Lyso-glycosphingolipids: presence and consequences." Essays in Biochemistry 64, no. 3 (August 18, 2020): 565–78. http://dx.doi.org/10.1042/ebc20190090.
Jolly, R. D., and S. U. Walkley. "Lysosomal Storage Diseases of Animals: An Essay in Comparative Pathology." Veterinary Pathology 34, no. 6 (November 1997): 527–48. http://dx.doi.org/10.1177/030098589703400601.
Ivanova, Margarita. "Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases." Journal of Clinical Medicine 9, no. 4 (April 14, 2020): 1116. http://dx.doi.org/10.3390/jcm9041116.
Blumenreich, Shani, Or B. Barav, Bethan J. Jenkins, and Anthony H. Futerman. "Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease." International Journal of Molecular Sciences 21, no. 14 (July 14, 2020): 4966. http://dx.doi.org/10.3390/ijms21144966.
Gieselmann, Volkmar, Ulrich Matzner, Diana Klein, Jan Eric Mansson, Rudi D'Hooge, Peter D. DeDeyn, Renate Lüllmann Rauch, Dieter Hartmann, and Klaus Harzer. "Gene therapy: prospects for glycolipid storage diseases." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358, no. 1433 (May 29, 2003): 921–25. http://dx.doi.org/10.1098/rstb.2003.1277.
Gabig-Cimińska, M., J. Jakóbkiewicz-Banecka, M. Malinowska, A. Kloska, E. Piotrowska, I. Chmielarz, M. Moskot, A. Węgrzyn, and G. Węgrzyn. "Combined Therapies for Lysosomal Storage Diseases." Current Molecular Medicine 15, no. 8 (October 6, 2015): 746–71. http://dx.doi.org/10.2174/1566524015666150921105658.
Dawson, Glyn, Karl Johnson, Norah R. McCabe, and Larry W. Hancock. "Molecular heterogeneity in lysosomal storage diseases." Neurochemical Pathology 8, no. 3 (June 1988): 203–17. http://dx.doi.org/10.1007/bf03160147.
Mononen, I. "Laboratory Diagnostics of Lysosomal Storage Diseases." Scandinavian Journal of Clinical and Laboratory Investigation 48 (1988): 81–82. http://dx.doi.org/10.3109/00365518809168517.
Boudes, Pol F. "Clinical studies in lysosomal storage diseases." Rare Diseases 1, no. 1 (January 2013): e26690. http://dx.doi.org/10.4161/rdis.26690.
Gelb, Michael H., C. Ronald Scott, and Frantisek Turecek. "Newborn Screening for Lysosomal Storage Diseases." Clinical Chemistry 61, no. 2 (February 1, 2015): 335–46. http://dx.doi.org/10.1373/clinchem.2014.225771.
Alroy, J. "Secondary changes in lysosomal storage diseases." Acta Paediatrica 91 (January 2, 2007): 149. http://dx.doi.org/10.1111/j.1651-2227.2002.tb03181.x.
KOLODNY, EDWIN H. "Early Detection of Lysosomal Storage Diseases." Annals of the New York Academy of Sciences 477, no. 1 Mental Retard (December 1986): 312–20. http://dx.doi.org/10.1111/j.1749-6632.1986.tb40350.x.
Mononen, I. "Laboratory Diagnostics of Lysosomal Storage Diseases." Scandinavian Journal of Clinical and Laboratory Investigation 48, sup190 (January 1988): 81–82. http://dx.doi.org/10.1080/00365518809168517.
Kaye, Edward M. "Therapeutic approaches to lysosomal storage diseases." Journal of Pediatrics 7, no. 6 (1995): 650–54. http://dx.doi.org/10.1097/00008480-199512000-00004.