Results 131 to 140 of about 14,087 (142)

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

Journal of Biological Chemistry, 2019
Johannes Aerts, Frank Bradke, Diana Raju   +2 more
exaly  

Mitochondrial and lysosomal dysfunction in GBA2-associated Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegias (HSPs) are a large group of neurodegenerative diseases that share common symptoms like lower limb stiffness and spasticity. More than 70 genes whose mutations cause HSPs have been identified and they are involved in different molecular mechanisms, such as lipid metabolism, mitochondrial function, and endo-lysosomal system
openaire   +1 more source

The role of Rac1 in regulating actin cytoskeleton in GBA2-HSP neurons

Hereditary Spastic Paraplegias (HSPs) are a class of inherited neurodegenerative disorders that mainly damage motor neurons and may present various motor symptoms, such as spasticity, along with more peculiar features in complex HSP forms, such as epilepsy and dementia.
openaire   +1 more source

Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans

Biochemical and Biophysical Research Communications, 2012
Ellen Sidransky, Klaus Harzer, Ehud Goldin   +2 more
exaly  

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

International Journal of Molecular Sciences, 2018
Anna Malekkou, Elena Chiricozzi, Eleni Zamba-Papanicolaou   +2 more
exaly  

THERAPEUTIC USE OF GBA2

2008
MATERN HEIDRUN, MATERN SIEGFRIED, RUSSEL DAVID W, YILDIZ YILDIZ   +3 more
openaire   +2 more sources

41 GBA2 DEFICIENCY LEADS TO ZONAL GLUCOSYLCERAMIDE ACCUMULATION AND INCREASED APOPTOSIS IN THE LIVER

Journal of Hepatology, 2008
Y. Yildiz, H. Matern, S. Matern, T. Sauerbruch, F. Lammert   +4 more
openaire   +1 more source

Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue

Biological Chemistry, 2019
Klaus Harzer, Yıldız Yıldız, Stefanie Beck-Wödl   +2 more
exaly  

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
openaire   +1 more source

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2)

ACS Chemical Biology, 2016
Spencer Williams, Anupong Tankrathok, Genji Kurisu   +2 more
exaly