Results 31 to 40 of about 58,222 (243)

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
doaj   +1 more source

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Molecular Therapy: Methods & Clinical Development, 2018
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB [MPS IIIB]) is a lysosomal storage disorder primarily affecting the brain that is caused by a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulation ...
Don Clarke, Yewande Pearse, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino   +7 more
doaj   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +1 more source

Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation

Communications Biology, 2022
The cell type-specific expression of the glucocerebrosidase gene, associated with the lysosomal storage disorder called Gaucher disease, is linked to cis- and trans-regulatory transcriptional and translational mechanisms.
Keiko Miyoshi, Hiroko Hagita, Taigo Horiguchi, Ayako Tanimura, Takafumi Noma   +4 more
doaj   +1 more source

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Disease Models & Mechanisms, 2016
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates.
Heike Wolf, Markus Damme, Stijn Stroobants, Rudi D'Hooge, Hans Christian Beck, Irm Hermans-Borgmeyer, Renate Lüllmann-Rauch, Thomas Dierks, Torben Lübke   +8 more
doaj   +1 more source

Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.

PLoS ONE, 2021
Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a pediatric neurodegenerative disorder characterized by progressive retinal and central nervous system deterioration during infancy.
Bailey Balouch, Halle Nagorsky, Truc Pham, James Thai LaGraff, Quynh Chu-LaGraff   +4 more
doaj   +1 more source

Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease

PLoS ONE, 2015
Objective Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis.
L. Clark, R. Chan, R. Cheng, Xinmin Liu, N. Park, N. Parmalee, S. Kisselev, Etty P. Cortes, P. Torres, G. Pastores, J. Vonsattel, R. Alcalay, K. Marder, Lawrence L. Honig, S. Fahn, R. Mayeux, M. Shelanski, G. Di Paolo, Joseph H. Lee   +18 more
semanticscholar   +1 more source

Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature

Turkish Journal of Hematology, 2010
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (
Gökhan Kabaçam, Gülşah Kabaçam, Pervin Topçuoğlu, Işınsu Kuzu, Mutlu Arat   +4 more
doaj   +3 more sources

Cholesterol pathways affected by small molecules that decrease sterol levels in Niemann-Pick type C mutant cells. [PDF]

PLoS ONE, 2010
Niemann-Pick type C (NPC) disease is a genetically inherited multi-lipid storage disorder with impaired efflux of cholesterol from lysosomal storage organelles.The effect of screen-selected cholesterol lowering compounds on the major sterol pathways was ...
Madalina Rujoi, Nina H Pipalia, Frederick R Maxfield   +2 more
doaj   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source