Results 111 to 120 of about 10,389 (214)

A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs

, 1998
We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 ...
Filocamo M, Silvestro E, Gatti R, Titomanlio L, Perretti A, PARENTI, GIANCARLO, ANDRIA, GENEROSO, Rizzolo G   +7 more
core  

Mutation analysis, heterologous expression, and characterization of human glucocerebrosidase [PDF]

, 2018
Gaucher disease, the most common lysosomal storage disorder, results from a deficiency in the enzyme glucocerebrosidase. Inherited as an autosomal recessive disorder, Gaucher disease is clinically heterogeneous with both non-neuronopathic (Type 1) and ...
Sinclair, Graham Bernard
core  

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations [PDF]

Objective We utilized human midbrain-like organoids (hMLOs) generated from human pluripotent stem cells carrying glucocerebrosidase gene (GBA1) and α-synuclein (α-syn; SNCA) perturbations to investigate genotype-to-phenotype relationships in Parkinson ...
Saw, Tzuen Yih, Yaw, Lai‐Ping, Jung, Byung Chul, Lim, Grace Gui Yin, Tan, Eng‐King, Ng, Huck‐Hui, Lee, Seung‐Jae, Sun, Alfred Xuyang, Yu, Weonjin, Khoo, Audrey Tze Ting, Lim, Kah‐Leong, Je, Hyunsoo Shawn, Ong, Wei‐Yi, Yang, Lin, Jo, Junghyun, Xiao, Bin, Lokman, Hidayat, Chang, Ya Yin, Xie, Jessica Jiaxin, Tran, Hoang‐Dai   +19 more
core  

Long-term inhibition of lysosomal glucocerebrosidase activity promotes GPX4 stability and inhibits ferroptosis in dopaminergic neurons. [PDF]

Cell Death Dis
Bonte MA, Gouel F, Jonneaux A, Belarbi K, Devos D, Devedjian JC.   +5 more
europepmc   +1 more source

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  

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [PDF]

Orphanet J Rare Dis
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

Ceramide Metabolic Pathways and Their Regulation in Adolescent Acne Vulgaris. [PDF]

Int J Mol Sci
Gou Y, Wu H, Wu X, Dong G, Li H, Yuan H, Li L.   +6 more
europepmc   +1 more source

Extended Deletion in the <i>GBA1</i> Gene, Masked by Apparent p.Asn409Ser Homozygous: Diagnostic Implications and the Need for an Integrated Genetic Approach. [PDF]

Int J Mol Sci
Anania M, Giacomarra M, Palumbo G, D'Errico A, Marsana EM, Palladino S, Sforzini G, Francofonte D, Colomba P, Duro G, Zizzo C.   +10 more
europepmc   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report. [PDF]

Clin Case Rep
Waqas M, Bano R, Haider MU, Abhishek K, Mehmood A, Abbas A, Ali A, Basheer T, Altaf RM, Samadi Y.   +9 more
europepmc   +1 more source

Mitochondrial Quality Control Imbalance in the Heterogeneity of Parkinson's Disease: From Selective Vulnerability to Stratified Transformation. [PDF]

Int J Mol Sci
Chen Y, Wang C.
europepmc   +1 more source