Results 81 to 90 of about 3,656,183 (130)

Lysosomal Storage Diseases: Is Impaired Apoptosis a Pathogenic Mechanism?*

, 2004
International audienceLysosomal storage disorders are inborn diseases resulting from the lack or deficient activity of lysosomal hydrolases, transporters, or integral membrane proteins.
Tardy, Claudine, Andrieu-Abadie, Nathalie, Salvayre, Robert, Levade, Thierry   +3 more
core   +1 more source

Prevalence of lysosomal storage disorders

, 1999
CONTEXT: Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some ...
Hopwood, J., Clague, A., Meikle, P., Carey, W.   +3 more
core   +1 more source

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency

Scientific Reports
Progranulin is a pro-protein that is necessary for maintaining lysosomal function. Loss-of-function progranulin (GRN) mutations are a dominant cause of frontotemporal dementia (FTD).
Wren O. Nader, Kaylan S. Brown, Nicholas R. Boyle, Azariah K. Kaplelach, Shaimaa M. Abdelaziz, Skylar E. Davis, Qays Aljabi, Ahmad R. Hakim, Amelia G. Davidson, Giacynta A. Vollmer, Leah C. Wright, J. Bailey Echols, Joelle Saad, Nicholas S. Pena, Andrew E. Arrant   +14 more
doaj   +1 more source

Lysosomes and Storage diseases

, 1970
info:eu-repo/semantics ...
Grégoire, Anne, Tondeur, Michel, Pohl, Sylvie, Dustin, Pierre   +3 more
openaire   +1 more source

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Carlo Bellini
doaj   +1 more source

Lysosomal Storage Diseases—Regulating Neurodegeneration

Journal of Experimental Neuroscience, 2016
Rob U. Onyenwoke, Jay E. Brenman
doaj  

Reply—Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Ozge Surmeli-Onay, Ayse Korkmaz
doaj   +1 more source

[Lysosomes and lysosomal storage diseases].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1975
K K, Lie, S O, Lie
openaire   +1 more source

Lysosomal Storage Disease [PDF]

, 2020
openaire   +1 more source