Results 81 to 90 of about 2,486,172 (179)

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

Rapid Multisystem Deterioration After Enzyme Replacement Therapy Discontinuation in Fabry Disease: A Familial Case Series with Kidney Transplantation

Turkish Journal of Nephrology
Fabry disease (FD) is an X-linked lysosomal storage disorder with progressive kidney cardiac, and neurological involvement. Enzyme replacement therapy (ERT) remains the cornerstone of management; however, the clinical consequences of treatment ...
Erdem Baran
doaj   +1 more source

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source

Lysosomal Storage Disorder: The Mechanism of Hurler Syndrome [PDF]

Hurler Syndrome is a rare pediatric neurodegenerative disorder, in which patients experience a multitude of symptoms starting around age 3. These symptoms include skeletal abnormalities, cognitive impairment, stunted growth, heart disease, and many ...
Sebastian, Maria, Ryan, Ashlyn
core   +1 more source

Lysosomal Storage Disease [PDF]

, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF  
GHOFRANI, Mohammad
core   +1 more source

Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity. [PDF]

PLoS Genet, 2023
Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, Li Y, Duong D, Phillips B, Cruchaga C, Allen GI, Seyfried NT, Al-Ramahi I, Botas J, Shulman JM.   +14 more
europepmc   +1 more source

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in Health and Disease, 2006
Summary Background Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide.
De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V   +7 more
doaj   +1 more source

Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid Breakdown

, 2017
The cellular recycling of glycosphingolipids (GSLs) is mediated by specific lysosomal glycosidases. Inherited deficiencies in these enzymes cause lysosomal storage disorders.
Marques, André R.A., Ferraz, Maria J., Maria J Ferraz, Kuo, Chi-Lin, Saskia V Oussoren, Tanit L Gabriel, Oussoren, Saskia V., Lelieveld, Lindsey T., Aerts, Johannes M., Mirzaian, Mina, Marc D Hazeu, Kassiani Kytidou, Marco Eijk, Boer, Daphne E.C., Boot, Rolf G., Patrick Wisse, Hazeu, Marc D., Chao, Daniela H.M., Daniela HM Chao, van der Lienden, Martijn J.C., Gabriel, Tanit L., Daphne EC Boer, Wisse, Patrick, Johannes M Aerts, Mina Mirzaian, Herman S Overkleeft, Aten, Jan, van Eijk, Marco, Jan Aten, Gaspar, Paulo, André RA Marques, Meijer, Rianne, Overkleeft, Herman S., Lindsey T Lelieveld, Rolf G Boot, Paulo Gaspar, Martijn JC Lienden, Kytidou, Kassiani, Rianne Meijer, Chi‐Lin Kuo   +39 more
core   +1 more source

Lysosomal storage diseases [PDF]

, 2018
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits.
Platt, Frances, D'Azzo, A, Platt, FM, Neufeld, EF, Tifft, CJ, Davidson, BL   +5 more
core   +1 more source

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease. [PDF]

Cells, 2023
El-Hage N, Haney MJ, Zhao Y, Rodriguez M, Wu Z, Liu M, Swain CJ, Yuan H, Batrakova EV.   +8 more
europepmc   +1 more source