Results 91 to 100 of about 10,389 (214)
Recombination between the gene and pseudogene for glucocerebrosidase as a mechanism of mutation generation in Gaucher disease [PDF]
, 2015 Gaucher disease is an autosomal recessive disorder caused by the deficiency of β-glucocerebrosidase. Some Gaucher patients carry in their β-glucocerebrosidase genes complex mutations which apparently arose by a recombination with the non-functional β ...
Peková, Barbora
core
Environmental Toxicology, Volume 41, Issue 10, Page 1105-1118, October 2026.ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye +5 more
wiley +1 more source
Glucocerebrosidase and Parkinson disease: Recent advances [PDF]
Molecular and Cellular Neuroscience, 2015 Mutations of the glucocerebrosidase (GBA) gene are the most important risk factor yet discovered for Parkinson disease (PD). Homozygous GBA mutations result in Gaucher disease (GD), a lysosomal storage disorder. Heterozygous mutations have not until recently been thought to be associated with any pathological process.
openaire +2 more sources
Design and Synthesis of Potent Quinazolines as Selective Glucocerebrosidase Modulators
, 2016 Zheng J, Chen L, Schwake M, Silverman RB, Krainc D. Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators. Journal of Medicinal Chemistry.
Silverman, Richard B. +9 more
core +1 more source
Ceramides in Parkinson’s Disease: From Recent Evidence to New Hypotheses
Frontiers in Neuroscience, 2019 Ceramides (Cer) constitute a class of lipids present in the cell membranes where they act as structural components, but they can also work as signaling molecules.
Nicoletta Plotegher +3 more
doaj +1 more source
Stem Cell Reports, 2017 Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang +4 more
doaj +1 more source
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells
, 2015 Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it is a monogenic disease, there is vast phenotypic heterogeneity, even among patients with the same genotype. MicroRNAs (miRNAs) are small
Scott E Martin (686524) +8 more
core +1 more source
Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers [PDF]
A remarkable enhancer of human glucocerebrosidase enzyme (GCase) was identified among a set of dihydroazulene-tagged iminosugars. An unprecedented 3.9-fold increase in GCase activity was detected on fibroblasts bearing the homozygous L444P mutation ...
Davighi, Maria Giulia +9 more
core +1 more source
Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles
Frontiers in Genetics, 2021 Elizabeth G. Woo +2 more
doaj +1 more source
Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina
Revista Brasileira de Hematologia e Hemoterapia, 2008 A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira +2 more
doaj +1 more source