Results 11 to 20 of about 2,368 (129)
Challenges in the diagnosis of gaucher disease with multiple splenic lesions
Journal of Applied Hematology, 2023 The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient
Ahmad Alshomar
doaj +1 more source
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 +4 more
doaj +3 more sources
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease
Frontiers in Neurology, 2021 Genetics has driven significant discoveries in the field of neurodegenerative diseases (NDDs). An emerging theme in neurodegeneration warrants an urgent and comprehensive update: that carrier status of early-onset autosomal recessive (AR) disease ...
Sophia R. L. Vieira, Huw R. Morris
doaj +1 more source
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 +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 +3 more
doaj +1 more source
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 +2 more
doaj +1 more source
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 +5 more
doaj +1 more source
Fermentation, 2023 The purpose of this study was to investigate the effects of replacing a portion of whole-plant corn silage with straw on the rumen microbial community structure and carbohydrate-active enzyme activity.
Yubin Ma +6 more
doaj +1 more source
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. [PDF]
PLoS ONE, 2015 Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement.
Hila Zigdon +5 more
doaj +1 more source
Effect of Expression of Human Glucosylceramidase 2 Isoforms on Lipid Profiles in COS-7 Cells
Metabolites, 2020 Glucosylceramide (GlcCer) is a major membrane lipid and the precursor of gangliosides. GlcCer is mainly degraded by two enzymes, lysosomal acid β-glucosidase (GBA) and nonlysosomal β-glucosidase (GBA2), which may have different isoforms because of ...
Peeranat Jatooratthawichot +6 more
doaj +1 more source