Results 21 to 30 of about 42,118 (292)

The Role of Exosomes in Lysosomal Storage Disorders

Biomolecules, 2021
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky   +3 more
doaj   +1 more source

Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]

, 2017
Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj, Kornfeld, Stuart, Lee, Wang-Sik, Liu, Lin   +3 more
core   +3 more sources

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

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. [PDF]

J Clin Invest, 2014
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.   +35 more
europepmc   +3 more sources

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

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

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Acta Neuropathologica Communications, 2018
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic ...
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber   +8 more
doaj   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source