Results 51 to 60 of about 3,748 (212)

A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease [PDF]

, 2017
Galactosylceramidase (GALC) is the lysosomal β-galactosidase responsible for the hydrolysis of galactosylceramide. Inherited deficiency in GALC causes Krabbe disease, a devastating neurological disorder characterized by accumulation of galactosylceramide
Aerts, Johannes M F G, Biela-Banas, Anna, Boot, Rolf G., Cachón‐González, M. Begoña, Cox, Timothy M., Florea, Bogdan I., Herrera Moro, Daniela, Kallemeijn, Wouter W., Kim, Nee Na, Marques, André R. A., Martin, Olivier R., Nelson, Jessica K., Ottenhoff, Roelof, Overkleeft, Herman S., Scheij, Saskia, van Roomen, Cindy P.A.A., Verhoek, Marri, Willems, Lianne I.   +17 more
core   +1 more source

Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. [PDF]

PLoS ONE, 2011
The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the ...
Karen M Ashe, Dinesh Bangari, Lingyun Li, Mario A Cabrera-Salazar, Scott D Bercury, Jennifer B Nietupski, Christopher G F Cooper, Johannes M F G Aerts, Edward R Lee, Diane P Copeland, Seng H Cheng, Ronald K Scheule, John Marshall   +12 more
doaj   +1 more source

Rottlerin Stimulates Exosome/Microvesicle Release Via the Increase of Ceramide Levels Mediated by Ampk in an In Vitro Model of Intracellular Lipid Accumulation

Biomedicines, 2022
Exosomes/microvesicles originate from multivesicular bodies that allow the secretion of endolysosome components out of the cell. In the present work, we investigated the effects of rottlerin, a polyphenol, on exosome/microvesicle secretion in a model of ...
Yessenia L. Molina, David García-Seisdedos, Bohdan Babiy, Milagros Lerma, Javier Martínez-Botas, María J. Casarejos, María T. Vallejo, Diego Gómez-Coronado, Miguel A. Lasunción, Óscar Pastor, Rebeca Busto   +10 more
doaj   +1 more source

Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

Frontiers in Neurology, 2020
In an unbiased genome-wide screen for copy number variants (CNVs) on a cohort of Parkinson's disease (PD) patients, we identified in one patient a complex chromosomal rearrangement involving the nucleotide binding protein-like (NUBPL) gene on chromosome ...
Peggy S. Eis, Neng Huang, J. William Langston, Eli Hatchwell, Birgitt Schüle   +4 more
doaj   +1 more source

Age-dependent changes in the sphingolipid composition of mouse CD4+ T cell membranes and immune synapses implicate glucosylceramides in age-related T cell dysfunction. [PDF]

PLoS ONE, 2012
To determine whether changes in sphingolipid composition are associated with age-related immune dysfunction, we analyzed the core sphingolipidome (i.e., all of the metabolites through the first headgroup additions) of young and aged CD4(+) T cells. Since
Alberto Molano, Zhaofeng Huang, Melissa G Marko, Angelo Azzi, Dayong Wu, Elaine Wang, Samuel L Kelly, Alfred H Merrill, Stephen C Bunnell, Simin Nikbin Meydani   +9 more
doaj   +1 more source

Dual Expression of the Salmonella Effector SrfJ in Mammalian Cells and Plants [PDF]

, 2017
SrfJ is an effector of the Salmonella pathogenicity island 2-encoded type III secretion system. Salmonella enterica serovar Typhimurium expresses srfJ under two disparate sets of conditions: media with low Mg2+ and low pH, imitating intravacuolar ...
Aguilera Herce, Julia, Ramos Morales, Francisco, Schikora, Adam, Zarkani, Azhar A.   +3 more
core   +2 more sources

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2) [PDF]

, 2016
Human glucosylcerebrosidase 2 (GBA2) of the CAZy family GH116 is responsible for the breakdown of glycosphingolipids on the cytoplasmic face of the endoplasmic reticulum and Golgi apparatus.
Anupong Tankrathok, Chomphunuch Songsiriritthigul, Genji Kurisu, Gideon J. Davies, Hideaki Tanaka, Imogen Breen, James R. Ketudat Cairns, Liang Wu, Matern H., Otwinowski Z., Ratana Charoenwattanasatien, Risa Mutoh, Salila Pengthaisong, Sompong Sansenya, Spencer J. Williams, Yanling Hua   +15 more
core   +11 more sources

Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program [PDF]

, 2017
Biomarkers for Parkinson's disease (PD) diagnosis, prognostication and clinical trial cohort selection are an urgent need. While many promising markers have been discovered through the National Institute of Neurological Disorders and Stroke Parkinson's ...
Albin, Roger, Alcalay, Roy N., Babcock, Debra, Bowman, F. DuBois, Chen-Plotkin, Alice, David, Karen K., Dawson, Ted M., Dewey, Richard B., Jr., Foroud, Tatiana, German, Dwight, Gwinn, Katrina, Huang, Xuemei, Lungu, Codrin, Petyuk, Vlad, Potashkin, Judith A., Rosenthal, Liana S., Saunders-Pullman, Rachel, Scherzer, Clemens R., Sieber, Beth-Anne, St Hillaire-Clarke, Coryse, Sutherland, Margaret, Swanson-Fischer, Christine, Vaillancourt, David E., Walt, David R., West, Andrew B., Zhang, Jing   +25 more
core   +1 more source

The Enigmatic Role of GBA2 in Controlling Locomotor Function

Frontiers in Molecular Neuroscience, 2017
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide.
Marina A. Woeste, Dagmar Wachten, Dagmar Wachten   +2 more
doaj   +1 more source

Oral Microbiota Identifies Patients in Early Onset Rheumatoid Arthritis

Microorganisms, 2021
Rheumatoid arthritis (RA) is the most common autoimmune inflammatory disease, and single periodontitis-associated bacteria have been suggested in disease manifestation. Here, the oral microbiota was characterized in relation to the early onset of RA (eRA)
Anders Esberg, Linda Johansson, Ingegerd Johansson, Solbritt Rantapää Dahlqvist   +3 more
doaj   +1 more source