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Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)
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The Effect of a Spastic Ataxia Associated GBA2 Mutation on Protein-Protein Interactions and Pathways

2019 IEEE 19th International Conference on Bioinformatics and Bioengineering (BIBE), 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. In 2014, Votsi et al., reported a novel missense mutation (Asp594His) in a Cypriot consanguineous family with ...
Kyproula Christodoulou, Marios Tomazou, Christina Votsi   +2 more
exaly   +2 more sources

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 ...
Matthis Synofzik, Aarnoud Van Der Spoel, Rebecca Schule   +2 more
exaly   +4 more sources

A novel GBA2 gene missense mutation in spastic ataxia.

Annals of human genetics, 2014
Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated a consanguineous Cypriot family with spastic ataxia, aiming towards identification of the causative mutation.
Votsi, Christina, Zamba-Papanicolaou, Eleni, Middleton, Lefkos T., Pantzaris, Marios, Christodoulou, Kyproula   +4 more
  +5 more sources

Glucosylcerebrosid accumulation in liver of bile acid beta glucosidase (Gba2) knockout mouse

Zeitschrift Fur Gastroenterologie, 2007
Y Yıldız, S Matern
exaly   +2 more sources

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

Zeitschrift Fur Gastroenterologie, 2008
Y Yıldız, S Matern
exaly   +2 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

Role of GBA2 in Morbus Gaucher

Zeitschrift für Gastroenterologie, 2010
Y Yildiz, S vom Dahl, C Niederau, D Häusinger, A Zimran, F Lammert, T Sauerbruch   +6 more
openaire   +2 more sources