Results 41 to 50 of about 3,930 (214)
The binding of glucosylceramidase to glucosylceramide is promoted by its activator protein [PDF]
FEBS Letters, 1987 A protein activator of glucosylceramidase (EC 3.2.1.45) has been previously identified by us in human placenta [(1985) Biochim. Biophys. Acta 836, 157–166]. In the present paper we report that its function in vitro is to stimulate the binding of the enzyme to its substrate, glucosylceramide. After the purification step which frees the enzyme of most of
Anna Maria Vaccaro +5 more
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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
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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
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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
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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
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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
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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
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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
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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
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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
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