Results 181 to 190 of about 15,101 (190)
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Glucosylcerebrosid accumulation in liver of bile acid beta glucosidase (Gba2) knockout mouse

Zeitschrift für Gastroenterologie, 2007
Y Yildiz   +5 more
openaire   +1 more source

Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63].

Clinical neurology and neurosurgery (Dutch-Flemish ed. Print), 2018
Giulia Coarelli   +10 more
semanticscholar   +1 more source

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

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

Journal of Hepatology, 2008
Y. Yildiz   +4 more
openaire   +1 more source

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