Results 131 to 140 of about 9,202 (225)

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

application/pdfGaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to ...
Ishii, Satoshi, Fan, Jian-Qiang, 石井, 達, Ichikawa, Yoshitaka, Chang, Hui-Hwa, Asano, Naoki   +5 more
core  

Purificação da enzima glucocerebrosidase humana produzida no leite do primeiro clone caprino transgênico da América Latina [PDF]

, 2016
Gaucher disease, first described in 1882, is a rare autosomal recessive genetic disorder characterized by a deficiency of glucocerebrosidase, an enzyme that catalyses the hydrolysis of lysosomal glucocerebroside into glucose and ceramide. The presence of
Wagner, Elisamar Santos Marin
core  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2011
openaire   +2 more sources

Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3. [PDF]

Ann Med Surg (Lond)
Saif M, Nasir A, Shafique S, Fatima M, Talha M.   +4 more
europepmc   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism. [PDF]

Mov Disord
Henderson MJ, Chen TC, Glasstetter LM, Chen Y, Marugan JJ, Sidransky E.   +5 more
europepmc   +1 more source

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]

Neurology
Alcalay RN, Mistry P, Di Fonzo A, Batista JL, Bianculli P, Carwile JL, Perichon MG, Balwani M.   +7 more
europepmc   +1 more source

Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy. [PDF]

Molecules
Chen J, Hu X, Wang L, Xu K, Li J, Wang Y, Liang C.   +6 more
europepmc   +1 more source