The Enigmatic Role of GBA2 in Controlling Locomotor Function [PDF]
Frontiers in Molecular Neuroscience, 2017 The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide.
Dagmar Wachten, Wachten Dagmar
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Selective labelling of GBA2 in cells with fluorescent β-d-arabinofuranosyl cyclitol aziridines [PDF]
Chemical ScienceFluorescent β- d -arabinofuranosyl cyclitol aziridine activity-based probes potently and selectively label GBA2 both in vitro and in cellulo , allowing visualization of overexpressed GBA2 using fluorescent ...
Herman Overkleeft +2 more
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PLoS ONE, 2020 The enzyme β-glucosidase 2 (GBA2) is clinically relevant because it is targeted by the drug miglustat (Zavesca®) and because it is involved in inherited diseases.
Aarnoud Van Der Spoel
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Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes) [PDF]
Molecular Brain, 2021 Homozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn)
Etsuro Nakanishi +10 more
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Associations between genetic variants in sphingolipid metabolism pathway genes and hepatitis B virus-related hepatocellular carcinoma survival [PDF]
Frontiers in Oncology, 2023 BackgroundAlthough the sphingolipid metabolism pathway is known to play a significant role in tumor progression, there have been few studies on how genetic variants in the sphingolipid metabolism pathway genes affect the survival of patients with ...
Binbin Jiang +16 more
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Carrier-Free Gambogic Acid Dimer Self-Assembly Nanomedicines for Rheumatoid Arthritis Treatment [PDF]
International Journal of Nanomedicine, 2023 Yuling Liu,1,* Xin Nie,2,3,* Yihan Wu,2 Longfei Lin,1 Qian Liao,1 Jingjing Li,4 Simon Ming-Yuen Lee,3 Hui Li,1,5 Jinming Zhang2 1Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, People’s Republic of China ...
Liu Y +8 more
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Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2 [PDF]
Neurochemical Research, 2015 The non-lysosomal β-glucosylceramidase GBA2 (EC3.2.1.45, GH116) is ubiquitously expressed in various mammal tissues and cell types where it catalyzes the hydrolysis of glucosylceramide into glucose and ceramide. Although it has been known for many years that the central nervous system is the main site of GBA2 expression and activity, little information
Rosaria Bassi +2 more
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A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report
eNeurologicalSci, 2020 Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the ...
Keiko Nakamura-Shindo +6 more
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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 +13 more
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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 +12 more
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