Results 21 to 30 of about 15,101 (190)

Associations between genetic variants in sphingolipid metabolism pathway genes and hepatitis B virus-related hepatocellular carcinoma survival [PDF]

Frontiers in Oncology, 2023
BackgroundAlthough the sphingolipid metabolism pathway is known to play a significant role in tumor progression, there have been few studies on how genetic variants in the sphingolipid metabolism pathway genes affect the survival of patients with ...
Binbin Jiang, Moqin Qiu, Liming Qin, Jingmei Tang, Shicheng Zhan, Qiuling Lin, Junjie Wei, Yingchun Liu, Zihan Zhou, Xiumei Liang, Ji Cao, Jiawei Lian, Yuejiao Mai, Yanji Jiang, Hongping Yu, Hongping Yu, Hongping Yu   +16 more
doaj   +2 more sources

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

Neurochemical Research, 2016
Massimo Aureli, Maura Samarani, Nicoletta Loberto, Giulia Mancini, Valentina Murdica, Elena Chiricozzi, Alessandro Prinetti, Rosaria Bassi, Sandro Sonnino   +8 more
semanticscholar   +4 more sources

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

Neurobiology of Disease, 2019
Niemann-Pick type C disease (NPCD) is a neurodegenerative disease associated with increases in cellular cholesterol and glycolipids and most commonly caused by defective NPC1, a late endosomal protein.
Simon Wheeler, Per Haberkant, Meenakshi Bhardwaj, Paige Tongue, Maria J. Ferraz, David Halter, Hein Sprong, Ralf Schmid, Johannes M.F.G. Aerts, Nikol Sullo, Dan J. Sillence   +10 more
doaj   +3 more sources

Carrier-Free Gambogic Acid Dimer Self-Assembly Nanomedicines for Rheumatoid Arthritis Treatment [PDF]

International Journal of Nanomedicine, 2023
Yuling Liu,1,* Xin Nie,2,3,* Yihan Wu,2 Longfei Lin,1 Qian Liao,1 Jingjing Li,4 Simon Ming-Yuen Lee,3 Hui Li,1,5 Jinming Zhang2 1Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, People’s Republic of China ...
Liu Y, Nie X, Wu Y, Lin L, Liao Q, Li J, Lee SMY, Li H, Zhang J   +8 more
doaj   +2 more sources

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations [PDF]

Journal of Biological Chemistry, 2019
The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia ...
Marina A. Woeste, Sina Stern, Diana N. Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N. Hansen, Sophie Schonauer, Carina E. Marx, Hussein Hamzeh, Heinz G. Körschen, Johannes M. F. G. Aerts, Wolfgang Bönigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K. Berger, Frank Bradke, Dagmar Wachten   +19 more
openalex   +2 more sources

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
As so many drugs have failed in ALS a new approach is needed. The author proposes that recent human genetic variants may play major roles in the disease, changing metabolism.
Michael Spedding
doaj   +2 more sources

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis [PDF]

Journal of Neurology, 2013
Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of neurologic and extra-neurologic signs and symptoms. Among them, HSP with thin corpus callosum and intellectual disability is a frequent subtype, often inherited as a recessive trait (ARHSP-TCC).
Andrea Citterio, Alessia Arnoldi, Elena Panzeri, Maria Grazia D’Angelo, Massimiliano Filosto, Robertino Dilena, Filippo Arrigoni, Marianna Castelli, Cristina Maghini, Chiara Germiniasi, Francesca Menni, Andrea Martinuzzi, Nereo Bresolin, Maria Teresa Bassi   +13 more
semanticscholar   +6 more sources

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience [PDF]

Children
Objective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions.
Seyda Besen, Yasemin Özkale, Murat Özkale, Sevcan Tuğ Bozdoğan, Özlem Alkan, Serdar Ceylaner, İlknur Erol   +6 more
doaj   +2 more sources

6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols [PDF]

Journal of Lipid Research
Gaucher disease (GD) is a lysosomal storage disorder (LSD) resulting from inherited glucocerebrosidase (GBA1) deficiency. GD diagnosis relies on GBA1 activity assays, typically employing 4-methylumbelliferyl-β-D-glucopyranoside (4MU-β-Glc) as fluorogenic
Stef Bannink, Kateryna O. Bila, Joosje van Weperen, Nina A.M. Ligthart, Maria J. Ferraz, Rolf G. Boot, Daan van der Vliet, Daphne.E.C. Boer, Herman S. Overkleeft, Marta Artola, Johannes M.F.G. Aerts   +10 more
doaj   +2 more sources

Structure–Activity Studies of N‐Butyl‐1‐deoxynojirimycin (NB‐DNJ) Analogues: Discovery of Potent and Selective Aminocyclopentitol Inhibitors of GBA1 and GBA2 [PDF]

ChemMedChem, 2017
Analogues of N‐butyl‐1‐deoxynojirimycin (NB‐DNJ) were prepared and assayed for inhibition of ceramide‐specific glucosyltransferase (CGT), non‐lysosomal β‐glucosidase 2 (GBA2) and the lysosomal β‐glucosidase 1 (GBA1).
Xingxian Gu, Vijayalaxmi Gupta, Yan Yang, J. Zhu, Erick J. Carlson, Carolyn N. Kingsley, Joseph S. Tash, E. Schönbrunn, Jon E. Hawkinson, Gunda I. Georg   +9 more
openalex   +2 more sources