Results 21 to 30 of about 2,570 (187)

Glucosylceramidase [PDF]

, 2020
openaire   +2 more sources

Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates [PDF]

Molecular Therapy: Methods & Clinical Development
Delivering drugs effectively to the central nervous system (CNS) is a major challenge in drug development, including adeno-associated virus (AAV) gene therapy.
Takuro Okai, Sho Sato, Hironobu Yasuno, Miyu Nakayama, Syunsuke Yamamoto, Sebastian Sjöqvist, Kentaro Otake, Masato Nakashima, Mugdha Deshpande, Elizabeth Galbreath, Jeong-Ho Oak, Saku Miyamoto, Gabriele Proetzel   +12 more
doaj   +2 more sources

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +3 more sources

Morbus gaucher: A report of two cases [PDF]

Vojnosanitetski Pregled, 2006
Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj   +1 more source

Artesunate directly targets glucosylceramidase to suppress hepatocellular carcinoma proliferation and trigger apoptosis. [PDF]

Genes Dis
Mao X, Yan X, Chen Y, Cai B, Chen W, Lin Y, Lin N, Zhang Y.   +7 more
europepmc   +2 more sources

Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature

Turkish Journal of Hematology, 2010
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (
Gökhan Kabaçam, Gülşah Kabaçam, Pervin Topçuoğlu, Işınsu Kuzu, Mutlu Arat   +4 more
doaj   +3 more sources

Network pharmacology and experiment indicated that medicinal food homologous components play important roles in insomnia

Food Frontiers, 2023
Insomnia refers to a subjective experience where insufficient sleep duration and quality affect daytime social functioning. This study aims to screen bioactive components with medicinal food homologous (MFH), such as quercetin, beta‐sitosterol ...
Xiao Xu, Yang Liu, Xueqi Fu, Guodong Li, Weiwei Han, Wannan Li   +5 more
doaj   +1 more source

Should we offer deep brain stimulation to Parkinson’s disease patients with GBA mutations?

Frontiers in Neurology, 2023
Parkinson’s disease (PD) patients who are carriers of glucosylceramidase β1 (GBA1) gene mutations typically have an earlier age at onset and a more aggressive disease course, with a higher burden of neuropsychological issues.
Carlo Alberto Artusi, Carlo Alberto Artusi, Leonardo Lopiano, Leonardo Lopiano   +3 more
doaj   +1 more source

GBA Regulates EMT/MET and Chemoresistance in Squamous Cell Carcinoma Cells by Modulating the Cellular Glycosphingolipid Profile

Cells, 2023
Glycosphingolipids (GSL) are plasma membrane components that influence molecular processes involved in cancer initiation, progression, and therapeutic responses. They also modulate receptor tyrosine kinases involved in EMT.
Laura E. Clark, Amanda J. G. Dickinson, Santiago Lima   +2 more
doaj   +1 more source

Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan

Orphanet Journal of Rare Diseases, 2021
Background Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement therapy is generally recommended for
Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida, Jovelle Fernandez   +5 more
doaj   +1 more source