The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population [PDF]
Frontiers in Aging Neuroscience, 2021 Qian Xu, Jifeng Guo, Bin Li
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Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation [PDF]
International Journal of Neonatal Screening, 2023 Konstantinos Petritis +2 more
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Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal [PDF]
Molecular Therapy - Methods and Clinical Development, 2021 Xavier Leon +2 more
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Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder [PDF]
Journal of Radiology Case Reports, 2015 John Naheedy
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Treatment for Lysosomal Storage Disorders
Current Pharmaceutical Design, 2020Lysosomal storage disorders comprise a group of approximately 70 types of inherited diseases resulting due to lysosomal gene defects. The outcome of the defect is a deficiency in either of the three: namely, lysosomal enzymes, activator protein, or transmembrane protein, as a result of which there is an unwanted accumulation of biomolecules inside ...
Jayesh Sheth, Aadhira Nair
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A novel transgenic mouse model of lysosomal storage disorder
American Journal of Physiology - Renal Physiology, 2016 Ronald Gregg, , Scott Shaffer
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Drug induced phospholipidosis: An acquired lysosomal storage disorder [PDF]
Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2013 James Shayman
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Lysosomal Biogenesis in Lysosomal Storage Disorders
Experimental Cell Research, 1997Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome to form an integrated organelle and involves the synthesis, targeting, functional residence, and turnover of the proteins that comprise the lysosome. We have investigated lysosomal biogenesis during the formation and dissipation of storage vacuoles in two
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Autophagy and Lysosome Storage Disorders
2020Lysosomal storage disorders (LSDs) are one of the most common human genetic metabolic diseases caused by gene mutations. Up to now, more than 70 LSDs have been identified and mainly divided into five categories. LSDs are mainly caused by defects in the function of enzymes or lysosomal-related proteins in lysosomes, which causes progressive accumulation
Haigang, Ren, Guanghui, Wang
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Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention.
G.M. Pastores, D.A. Hughes
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