Results 1 to 10 of about 15,032 (167)

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice. [PDF]

PLoS ONE, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
André R A Marques, Jan Aten, Roelof Ottenhoff, Cindy P A A van Roomen, Daniela Herrera Moro, Nike Claessen, María Fernanda Vinueza Veloz, Kuikui Zhou, Zhanmin Lin, Mina Mirzaian, Rolf G Boot, Chris I De Zeeuw, Herman S Overkleeft, Yildiz Yildiz, Johannes M F G Aerts   +14 more
doaj   +39 more sources

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, Norihito Uemura, Hisako Akiyama, Masato Kinoshita, Sawamura Masanori, Yosuke Taruno, Hodaka Yamakado, Shu-ichi Matsuzawa, Shunichi Takeda, Yoshio Hirabayashi, Ryosuke Takahashi   +10 more
doaj   +6 more sources

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.
Marina A. Woeste, Dagmar Wachten, Dagmar Wachten   +2 more
doaj   +3 more sources

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.

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.
Saki Sultana, Jacklyn Stewart, Aarnoud C van der Spoel   +2 more
doaj   +4 more sources

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature. [PDF]

Neurogenetics
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to
Cioffi E, Coppola G, Musumeci O, Gallone S, Silvestri G, Rossi S, Piemonte F, D'Amico J, Tessa A, Santorelli FM, Casali C.   +10 more
europepmc   +4 more sources

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, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada   +6 more
doaj   +3 more sources

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

ACS Chemical Biology, 2016
Human glucosylcerebrosidase 2 (GBA2) of the CAZy family GH116 is responsible for the breakdown of glycosphingolipids on the cytoplasmic face of the endoplasmic reticulum and Golgi apparatus.
Anupong Tankrathok, Chomphunuch Songsiriritthigul, Genji Kurisu, Gideon J. Davies, Hideaki Tanaka, Imogen Breen, James R. Ketudat Cairns, Liang Wu, Matern H., Otwinowski Z., Ratana Charoenwattanasatien, Risa Mutoh, Salila Pengthaisong, Sompong Sansenya, Spencer J. Williams, Yanling Hua   +15 more
core   +6 more sources

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

Genes and Diseases, 2021
The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive ...
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer   +5 more
doaj   +3 more sources

Selective labelling of GBA2 in cells with fluorescent β-d-arabinofuranosyl cyclitol aziridines. [PDF]

Chem Sci
GBA2, the non-lysosomal β-glucosylceramidase, is an enzyme involved in glucosylceramide metabolism. Pharmacological inhibition of GBA2 by N-alkyl iminosugars is well tolerated and benefits patients suffering from Sandhoff and Niemann–Pick type C diseases,
Su Q, Louwerse M, Lammers RF, Maurits E, Janssen M, Boot RG, Borlandelli V, Offen WA, Linzel D, Schröder SP, Davies GJ, Overkleeft HS, Artola M, Aerts JMFG.   +13 more
europepmc   +4 more sources

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

Clinical neurology and neurosurgery (Dutch-Flemish ed. Print), 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +4 more sources