Results 11 to 20 of about 15,101 (190)

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

PLoS ONE, 2017
BackgroundWith the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies.
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff   +12 more
doaj   +7 more sources

Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics. [PDF]

PLoS Genetics, 2015
Glycosphingolipids are key elements of cellular membranes, thereby, controlling a variety of cellular functions. Accumulation of the simple glycosphingolipid glucosylceramide results in life-threatening lipid storage-diseases or in male infertility.
Diana Raju, Sophie Schonauer, Hussein Hamzeh, Kevin C Flynn, Frank Bradke, Katharina Vom Dorp, Peter Dörmann, Yildiz Yildiz, Christian Trötschel, Ansgar Poetsch, Bernadette Breiden, Konrad Sandhoff, Heinz G Körschen, Dagmar Wachten   +13 more
doaj   +7 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   +8 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   +6 more sources

Mitochondrial dysfunction in NPC1 ‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1 [PDF]

FEBS Letters, Volume 598, Issue 4, Page 477-484, February 2024.
Niemann–Pick type C disease (NPCD) is a rare neurodegenerative disorder most commonly caused by mutations in the lysosomal protein Niemann–Pick C1 (NPC1), which is implicated in cholesterol export.
Simon Wheeler, Meenakshi Bhardwaj, Victor Kenyon, María Pía Ferraz, Johannes M. F. G. Aerts, Daniel J. Sillence   +5 more
semanticscholar   +3 more sources

GBA2 Gene [PDF]

Definitions, 2020
gene plays a role in bile acid hydrolysis.
National Cancer Institute
semanticscholar   +3 more sources

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

International Journal of Molecular Sciences, 2018
The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose.
Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba‐Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou   +10 more
semanticscholar   +3 more sources

Paraparesia espástica SPG-46 por mutación de GBA2: a propósito del primer caso descrito en España

Neurología, 2023
C. Cores Bartolomé, E. Rubio Nazábal, M.J. Sobrido, C. Pérez Sousa   +3 more
doaj   +3 more sources

GBA2 wt Allele [PDF]

Definitions, 2020
National Cancer Institute
semanticscholar   +3 more sources

SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain

Neurología (English Edition), 2023
Carlos Cores Bartolomé, Eduardo Rubio Nazábal, M.J. Sobrido, C. Pérez Sousa   +3 more
semanticscholar   +3 more sources