Results 171 to 180 of about 15,101 (190)

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Biochemical and Biophysical Research Communications, 2015
Glucosylceramide is a membrane glycolipid made up of the sphingolipid ceramide and glucose, and has a wide intracellular distribution. Glucosylceramide is degraded to ceramide and glucose by distinct, non-homologous enzymes, including glucocerebrosidase (GBA), localized in the endolysosomal pathway, and β-glucosidase 2 (GBA2), which is associated with ...
S. Sultana, Jennifer Reichbauer, R. Schüle, F. Mochel, M. Synofzik, A. C. van der Spoel   +5 more
semanticscholar   +3 more sources

Pathological role of GBA2 in GBA1-deficient neuronopathic Gaucher’s disease model of medaka

Journal of the Neurological Sciences, 2017
E. Nakanishi, N. Uemura, H. Akiyama, M. Kinoshita, H. Yamakado, S. Takdeda, Y. Hirabayashi, R. Takahashi   +7 more
semanticscholar   +2 more sources

Beta-glucosidase 2 (GBA2) deficiency leads to zonal glucosylceramide accumulation in the liver

Zeitschrift für Gastroenterologie, 2008
Yunus Yıldız, H. Matern, S Matern, Sandra Weber, Reinhard Büttner, Tilman Sauerbruch, Frank Lammert   +6 more
openalex   +2 more sources

The Effect of a Spastic Ataxia Associated GBA2 Mutation on Protein-Protein Interactions and Pathways

International Conferences on Biological Information and Biomedical Engineering, 2019
Spastic ataxia (SA) is a term used to describe a neurodegenerative disorder that is characterised by imbalance and incoordination in gait and limbs, accompanied by spasticity. Recently the GBA2 gene has been reported as an SA associated gene.
Andrea C. Kakouri, Christina Votsi, Marios Tomazou, K. Christodoulou, G. Spyrou   +4 more
semanticscholar   +1 more source

The nonlysosomal β‐glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells

The FASEB Journal, 2012
Glycosphingolipids, which are abundant at the surface of melanoma cells, play crucial roles in tumor progression. We investigated whether a newly described glycosphingolipid hydrolase, encoded by the GBA2 gene, can modulate human melanoma cell growth and death.
Sonia‐Caroline Sorli, Sandra Colié, Virginie Albinet, Alexandre Dubrac, Christian Touriol, Nicolas Guilbaud, Carmen Bedia, Gemma Fabriàs, Josefina Casas, Bruno Ségui, Thierry Levade, Nathalie Andrieu‐Abadie   +11 more
openalex   +4 more sources

Gaucher patients with type I phenotype carry no specific mutations of the GBA2 gene

Zeitschrift für Gastroenterologie, 2009
Introduction: Gaucher disease, the most common inherited lysosomal storage disorder in humans, is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). The deficiency of GBA1 results in accumulation of glucosylceramide in macrophage lysosome, which leads to liver and spleen enlargements, bone lesions, and in the most ...
A Maria, AM Oprisoreanu, AM Oprisoreanu, S vom Dahl, C Niederau, M Donner, D Häussinger, T Sauerbruch, F Lammert, Y Yildiz   +9 more
openaire   +1 more source

INVOLVEMEMENT OF GBA2 IN THE INFLAMMATORY RESPONSE TO PSEUDOMONAS AERUGINOSA IN CYSTIC FIBROSIS

2015
Cystic fibrosis (CF) lung disease is characterized by progressive chronic infection and inflammation of the airways representing the major cause of mortality in patients. Current anti-inflammatory strategies for the treatment of pulmonary disease in CF are limited; thus, there is continued interest in identifying additional molecular targets for ...
Schiumarini, Domitilla, Loberto, Nicoletta, Tebon, Maela, LAMPRONTI, Ilaria, Marchetti, Nicoletta, Aureli, Massimo, Bassi, Rosaria, Giri, Maria Grazia, Bezzerri, Valentino, Lovato, Valentina, Cantù, Cinzia, Munari, Silvia, Cheng, Seng H., CAVAZZINI, Alberto, GAMBARI, Roberto, Sonnino, Sandro, Cabrini, Giulio, Dechecchi, Maria Cristina   +17 more
openaire   +1 more source

Impaired liver regeneration in GBA2-deficient mice

Zeitschrift für Gastroenterologie, 2010
ER Almajan, R Sandhoff, MC Gonzales, R Büttner, S Weber, F Lammert, T Sauerbruch, Y Yildiz   +7 more
openaire   +1 more source

A novel GBA2 mutation in Spastic Paraplegia Type 46: Clinical and genetic insights

Journal of Neurological Sciences
Rashmi Mishra, Siddharth Maheshwari, Mridula Singh, Aabhasha Parotra   +3 more
semanticscholar   +1 more source

Inhibitory effect of hepatocarcinogenesis by increased glucosylceramide in Gba2 knockout mice

Zeitschrift für Gastroenterologie, 2011
S Boussettaoui, MA Gonzalez-Carmona, A Vogt, F Lammert, T Sauerbruch, Y Yildiz   +5 more
openaire   +1 more source