Results 61 to 70 of about 3,930 (214)

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

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +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

Autologous chondrocyte implantation-derived synovial fluids display distinct responder and non-responder proteomic profiles [PDF]

, 2017
Hulme, Charlotte H. & Wilson, Emma L. - Equal contributorsBackground Autologous chondrocyte implantation (ACI) can be used in the treatment of focal cartilage injuries to prevent the onset of osteoarthritis (OA).
AI Vasara, B Hopwood, BT Sherman, Charlotte H. Hulme, CM Stoscheck, CT Thorpe, D Saris, D Seny de, DA Wolff, Deborah M. Simpson, DL Cecil, DS Gibson, E Ehrich, E Roos, Emma L. Wilson, F Ceuninck De, FE Watt, G Knutsen, G Murphy, H Smith, H Zreiqat, I Tchetverikov, J Lysholm, J Mateos, J Shen, J Wanner, JA Vizcaino, James B. Richardson, JB Richardson, K Nganvongpanit, Karina T. Wright, KT Wright, LA Collins-Racie, Mandy J. Peffers, MF Hsueh, MF Pietschmann, MJ Peffers, MJ Peffers, MK Lotz, MN Dugard, N Balmain, P Germain, P Niemeyer, P Niemeyer, P Niemeyer, Pete Gallacher, PK Jaiswal, PM Jungmann, R Serra, RR Yammani, S Hartwig, S Roberts, Sally Roberts, SD Gillogly, SM Wasilko, SY Ritter, V Kraus, VB Kraus, W Liao, W Liao, X Yang, Y Su, Y Yoshihara   +62 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

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

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

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

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 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