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Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
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Lysosomal Storage Disorders

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

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, Irene J. Chang, Christina Lam, Gerard T. Berry   +3 more
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Lysosomal Biogenesis in Lysosomal Storage Disorders

Experimental Cell Research, 1997
Lysosomal 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., Isaac, E., Brooks, D., Ravenscroft, E., Davey, R., Hopwood, J., Meikle, P.   +6 more
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Sphingolipid lysosomal storage disorders

Nature, 2014
Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is the accumulation, or storage, of macromolecules in the late endocytic system. They are monogenic disorders that occur at a collective frequency of 1 in 5,000 live births and are caused by inherited defects in genes that mainly encode lysosomal proteins, most commonly ...
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Treatment for Lysosomal Storage Disorders

Current Pharmaceutical Design, 2020
Lysosomal 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 storage disorders

2015
The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
BARONE, RITA MARIA ELISA, PARINI R.
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Treating lysosomal storage disorders: What have we learnt?

Journal of Inherited Metabolic Disease, 2020
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease.
R. Lachmann
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Autophagy and Lysosome Storage Disorders

2020
Lysosomal 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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