Results 51 to 60 of about 156,351 (339)

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

YAP plays a crucial role in the development of cardiomyopathy in lysosomal storage diseases.

Journal of Clinical Investigation, 2020
Lysosomal dysfunction caused by mutations in lysosomal genes results in lysosomal storage disorder (LSD), characterized by accumulation of damaged proteins and organelles in cells and functional abnormalities in major organs, including the heart ...
Shohei Ikeda, Jihoon Nah, A. Shirakabe, P. Zhai, S. Oka, S. Sciarretta, K. Guan, H. Shimokawa, J. Sadoshima   +8 more
semanticscholar   +1 more source

Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer [PDF]

, 2005
Lysosomal storage is the most common cause of neurodegenerative brain disease in preadulthood. However, the underlying cellular mechanisms that lead to neuronal dysfunction are unknown.
Bellen, Hugo J, Callaerts, Patrick, Dermaut, Bart, Kania, Artur, Norga, Koenraad K, Pan, Hongling, Verstreken, Patrik, Zhou, Yi   +7 more
core   +3 more sources

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph, Anderson, Glenn W., Bras, Jose, Darwent, Lee, Faller, Kiterie M.E., Guerreiro, Rita J., Gutierrez Quintana, Rodrigo, Kun-Rodrigues, Celia, Mole, Sara E., Penderis, Jacques, Sharpe, Samuel J.   +10 more
core   +2 more sources

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
doaj   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders

Cells, 2021
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj   +1 more source

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]

, 2017
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline [PDF]

, 2017
Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life.
Amann, Azuma, Berent, Christomanou, Christopher J.H. Elliott, Claudepierre, Coombe, Dawkins, Dermaut, DeSalvo, Dominik Schwudke, Elleder, Erickson, Fewou, Fluegel, Freeman, Fujita, Furst, Ginzburg, Harzer, Hazkani-Covo, Heisenberg, Herzog, Hickey, Hindle, Hineno, Hiraiwa, Hiraiwa, Hiraiwa, Hofmann, Huang, Huang, Hulkova, Jardim, Jeyakumar, Kondoh, Levade, Lloyd-Evans, Lloyd-Evans, Lloyd-Evans, Matsuda, Matsuda, Matyash, Min, Morales, Morimoto, Myllykangas, Nakano, Nakano, O'Brien, O'Brien, Oya, Palladino, Patton, Pelled, Pelled, Phillips, Samantha J. Hindle, Sarita Hebbar, Schwudke, Sean T. Sweeney, Spiegel, Spurr, Sun, Sun, Sun, Sun, Sun, Sylvester, Tuxworth, Tylki-Szymanska, Van Den Berghe, Vogel, Wang, Yamada, Yan, Yonamine, Yoneshige, Yuan, Zafeiriou   +79 more
core   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]

, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina, Kisinovsky, Isaac, Roa, Norma, Rozenfeld, Paula Adriana   +3 more
core   +5 more sources