Results 11 to 20 of about 14,087 (142)

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

β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology [PDF]

Journal of Biological Chemistry, 2013
β-Glucosidase 2 (GBA2) is an enzyme that cleaves the membrane lipid glucosylceramide into glucose and ceramide. The GBA2 gene is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia). Pharmacologically, GBA2 is reversibly inhibited by alkylated imino sugars that are in clinical use or are being developed for ...
Nagendra Babu Thillaiappan, Frances M Platt, Aarnoud Van Der Spoel   +2 more
exaly   +3 more sources

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.

PLoS ONE, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
André R A Marques, Jan Aten, Roelof Ottenhoff, Cindy P A A van Roomen, Daniela Herrera Moro, Nike Claessen, María Fernanda Vinueza Veloz, Kuikui Zhou, Zhanmin Lin, Mina Mirzaian, Rolf G Boot, Chris I De Zeeuw, Herman S Overkleeft, Yildiz Yildiz, Johannes M F G Aerts   +14 more
doaj   +7 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

GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.

PLoS ONE, 2014
Current anti-inflammatory strategies for the treatment of pulmonary disease in cystic fibrosis (CF) are limited; thus, there is continued interest in identifying additional molecular targets for therapeutic intervention.
Nicoletta Loberto, Maela Tebon, Ilaria Lampronti, Nicola Marchetti, Massimo Aureli, Rosaria Bassi, Maria Grazia Giri, Valentino Bezzerri, Valentina Lovato, Cinzia Cantù, Silvia Munari, Seng H Cheng, Alberto Cavazzini, Roberto Gambari, Sandro Sonnino, Giulio Cabrini, Maria Cristina Dechecchi   +16 more
doaj   +6 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

Identification of Novel Prognostic Biomarkers for Colorectal Cancer by Bioinformatics Analysis [PDF]

The Turkish Journal of Gastroenterology
Background/Aims: Colorectal cancer (CRC) ranks third among malignancies in terms of global incidence and has a poor prognosis. The identification of effective diagnostic and prognostic biomarkers is critical for CRC treatment.
Chao Niu, Xiaogang Li, Xian Lei Luo, Hongwei Wan, Wendi Jin, Zhiping Zhang, Wanfu Zhang, Bo Li   +7 more
doaj   +2 more sources

The steady-state level of plasma membrane ceramide is regulated by neutral sphingomyelinase 2 [PDF]

Journal of Lipid Research
During the last 30 years, an increasing number of cellular functions have been reported to be regulated by the lipid ceramide. The diversity in the ceramide structure, leading to tens of ceramide species and the discrete distribution based on subcellular
Anne G. Ostermeyer-Fay, Abhay Kanodia, Ranjana Pathak, Maria Jose Hernandez-Corbacho, Aarnoud C. van der Spoel, Yusuf A. Hannun, Daniel Canals   +6 more
doaj   +2 more sources

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes [PDF]

Frontiers in Neuroanatomy, 2018
Gaucher’s disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase).
Rafael Franco, Rafael Franco, Juan A. Sánchez-Arias, Gemma Navarro, Gemma Navarro, Gemma Navarro, José L. Lanciego, José L. Lanciego, José L. Lanciego   +8 more
doaj   +4 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).
Elena Panzeri, Nereo Bresolin, Andrea Martinuzzi   +2 more
exaly   +4 more sources