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Lysosomal storage diseases [PDF]

Journal of Veterinary and Animal Sciences, 2021
Lysosomes play a pivotal role in cellular processes through an active interplay of enzymes, lysosomal membrane proteins, and cytosolic proteins. Lysosomal storage diseases are a group of inherited and acquired disorders.
Smitha Rose Georgy
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Mannose-6-phosphate glycan for lysosomal targeting: various applications from enzyme replacement therapy to lysosome-targeting chimeras

Animal Cells and Systems, 2022
A lysosome, an acidic membrane-bound organelle, contains hydrolytic enzymes to digest macromolecules for recycling. Many lysosomal enzymes (LEs) traffic to the lysosome through the mannose-6-phosphate (M6P)-dependent pathway.
Jinho Seo, Doo-Byoung Oh
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Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation

Nature Communications, 2023
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments.
Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio   +21 more
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Supplementation with β-carotene aids minimize inflammation in monosodium urate crystal- induced gouty arthritis in Wistar albino rats

Brazilian Journal of Pharmaceutical Sciences, 2022
Gout is a form of metabolic arthritis originated on grounds of increased accumulation of monosodium urate (MSU) crystals in joints. Current study focuses on anti-arthritic activities of β-carotene on MSU crystal-induced gouty arthritis rats in comparison
Lavinya B Udhaya, Aline Ubrewe Rutera, K Ram Kumar, N Sangeetha, P Manisha, Sabina Evan Prince   +5 more
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Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]

BioImpacts, 2013
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger, Paola Luzi, Mohammad A. Rafi   +2 more
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A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution

Frontiers in Bioengineering and Biotechnology, 2023
Currently available enzyme replacement therapies for lysosomal storage diseases are limited in their effectiveness due in part to short circulation times and suboptimal biodistribution of the therapeutic enzymes.
Yen-Hsi Chen, Yen-Hsi Chen, Weihua Tian, Weihua Tian, Makiko Yasuda, Zilu Ye, Zilu Ye, Ming Song, Ulla Mandel, Claus Kristensen, Lorenzo Povolo, André R. A. Marques, Tomislav Čaval, Tomislav Čaval, Albert J. R. Heck, Julio Lopes Sampaio, Ludger Johannes, Takahiro Tsukimura, Takahiro Tsukimura, Robert Desnick, Sergey Y. Vakhrushev, Zhang Yang, Zhang Yang, Henrik Clausen   +23 more
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Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies

Biomedicines, 2022
Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inborn mutations of lysosomal enzymes, which lead to lysosome substrate accumulation in various cell types [...]
Valeria De Pasquale, Melania Scarcella, Luigi Michele Pavone   +2 more
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Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Molecular Genetics and Metabolism Reports, 2023
Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome.
Xinying Hong, Laura Pollard, Miao He, Michael H. Gelb, Timothy C. Wood   +4 more
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Identification of active natural products that induce lysosomal biogenesis by lysosome-based screening and biological evaluation

Heliyon, 2022
Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding, Xu Yang, Yueqin Zhao, Yinyuan Wang, Jimin Fei, Zhenpeng Niu, Xianxiang Dong, Xuenan Wang, Biao Liu, Hongmei Li, Xiaojiang Hao, Yuhan Zhao   +11 more
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Redox State and Lysosomal Activity in Women with Ovarian Cancer with Tumor Recurrence and Multiorgan Metastasis

Molecules, 2021
The aim of the study is to evaluate oxidant–antioxidant balance as well as lysosomal and anti-protease activities in ovarian cancer since it has been emphasized that the crucial inducing factor of carcinogenesis may be reactive oxygen/nitrogen species or,
Paweł Sutkowy, Jolanta Czuczejko, Bogdan Małkowski, Karolina Szewczyk-Golec, Rita Łopatto, Marta Maruszak, Alina Woźniak   +6 more
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