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Taliglucerase Alfa Reduces Amyloid-β Burden by Restoring Autophagic Pathways in a Neuronal Model of Alzheimer's Disease. [PDF]
Neurochem ResÖzkurt Ç +4 more
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A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]
Orphanet J Rare DisVaishnaw MS, Richesson R.
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Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]
Yonago Acta MedTsuchie H +4 more
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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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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
Karageorgos, L. +6 more
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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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Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2014
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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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
+5 more sources
2021
Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun +3 more
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Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun +3 more
openaire +2 more sources