Results 41 to 50 of about 2,570 (187)

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

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

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease [PDF]

Orphanet Journal of Rare Diseases, 2013
Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among ...
Yildiz, Yildiz, Hoffmann, Per, Vom Dahl, Stefan, Breiden, Bernadette, Sandhoff, Roger, Niederau, Claus, Horwitz, Mia, Karlsson, Stefan, Filacamo, Mirella, Elstein, Deborah, Beck, Michael, Sandhoff, Konrad, Mengel, Eugen, Gonzalez, Maria C, Nöthen, Markus M, Sidransky, Ellen, Zimran, Ari, Mattheisen, Manuel   +17 more
openaire   +4 more sources

Preclinical insights into fucoidan as a nutraceutical compound against perfluorooctanoic acid-associated obesity via targeting endoplasmic reticulum stress

Frontiers in Nutrition, 2022
Obesity is a growing global health problem; it has been forecasted that over half of the global population will be obese by 2030. Obesity is complicated with many diseases, such as diabetes and cardiovascular diseases, leading to an economic impact on ...
Jiaqi Liu, Chao Guo, Yuqin Wang, Min Su, Wenjun Huang, Keng Po Lai   +5 more
doaj   +1 more source

Glucosylceramidase Mass and Subcellular Localization Are Modulated by Cholesterol in Niemann-Pick Disease Type C [PDF]

Journal of Biological Chemistry, 2004
Niemann-Pick disease type C (NPC) is characterized by the accumulation of cholesterol and sphingolipids in the late endosomal/lysosomal compartment. The mechanism by which the concentration of sphingolipids such as glucosylceramide is increased in this disease is poorly understood. We have found that, in NPC fibroblasts, the cholesterol storage affects
SALVIOLI R, SCARPA, Susanna, CIAFFONI F, TATTI M, RAMONI C, VANIER MT, VACCARO AM   +6 more
openaire   +3 more sources

Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study [PDF]

, 2020
BackgroundThere are limited data on the phenotypic and dopamine transporter (DAT) imaging characterization of the Parkinson's disease (PD) patients with leucine rich kinase 2 (LRRK2) and glucosylceramidase beta (GBA) mutations.ObjectiveThe objective of ...
Karl Kieburtz, Kieburtz, Karl, Chahine, Lana M., Trojanowski, John Q., Christopher S. Coffey, Parkinson's Progression Markers Initiative Investigators, John Q. Trojanowski, Mollenhauer, Brit, Daniel Weintraub, Nudelman, Kelly, Marek, Kenneth, Shaw, Leslie M., Tanya Simuni, Bressman, Susan, Galasko, Doug, Andrew Singleton, Tanner, Caroline M, Singleton, Andrew, Arthur W. Toga, Samantha Hutten, Siderowf, Andrew, Caroline M. Tanner, Toga, Arthur W., Susan Bressman, Alcalay, Roy N., Reimer, Alyssa, Brumm, Michael C., Doug Galasko, Kenneth Marek, Caspell‐Garcia, Chelsea, Duygu Tosun‐Turgut, Chelsea Caspell‐Garcia, Lana M. Chahine, Foroud, Tatiana, Liz Uribe, Kelly Nudelman, Tatiana Foroud, Seibyl, John, Alcalay, Roy N, Coffey, Christopher S., Caspell-Garcia, Chelsea, Tanner, Caroline M., Simuni, Tanya, Poston, Kathleen, Kathleen Poston, Trojanowski, John Q, John Seibyl, Alyssa Reimer, Andrew Siderowf, Roy N. Alcalay, Shaw, Leslie M, Leslie M. Shaw, Tosun‐Turgut, Duygu, Brit Mollenhauer, Uribe, Liz, Chahine, Lana M, Weintraub, Daniel, Hutten, Samantha, Michael C. Brumm, Toga, Arthur W, Tosun-Turgut, Duygu, Coffey, Christopher S, Brumm, Michael C   +62 more
core   +1 more source

The influence of dysregulated lipid metabolism on the progression of Parkinson's disease and its clinical implications

Chinese Journal of Contemporary Neurology and Neurosurgery
Lipid metabolism may play a role in the onset and progression of Parkinson's disease （PD）, involving various pathological mechanisms such as abnormal folding and accumulation of α‑synuclein (α‑Syn), ferroptosis, GBA1 gene mutation, and mitochondrial ...
XU Ying, GUI Ya‑xing
doaj   +1 more source

Erratum to: Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2 [PDF]

Neurochemical Research, 2016
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Aureli, Massimo, Samarani, Maura, Loberto, Nicoletta, Mancini, Giulia, Murdica, Valentina, Chiricozzi, Elena, Prinetti, Alessandro, Bassi, Rosaria, Sonnino, Sandro   +8 more
openaire   +2 more sources

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

eNeurologicalSci, 2020
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the ...
Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada   +6 more
doaj   +1 more source

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Cell & Bioscience, 2022
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes,
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou   +15 more
doaj   +1 more source