Results 31 to 40 of about 940,251 (149)
Molecular Genetics and Metabolism Reports, 2021 Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine.
Ashlee R. Stiles +5 more
doaj +1 more source
Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports [PDF]
Journal of Clinical and Diagnostic Research, 2015 Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India.
DOLANCHAMPA MODAK +3 more
doaj +1 more source
β-Glucocerebrosidase activity in mammalian stratum corneum
Journal of Lipid Research, 1999 Although previous studies have demonstrated a crucial role for the enzyme β-glucocerebrosidase (GlcCer'ase) in the final steps of membrane structural maturation in mammalian stratum cornuem (SC) and epidermal homeostasis, the precise in vivo localization
Yutaka Takagi +4 more
doaj +1 more source
Ambroxol therapy for Parkinson’s disease: Systematic literature review [PDF]
Romanian Journal of Neurology, 2023 Parkinson’s disease (PD) is the second most common neurodegenerative disease. The accumulation of α-synuclein protein in the basal ganglia is the underlying pathogenesis of PD. Genetic abnormalities are one of the predisposing factors for PD.
Virgi Mayang Maharani +3 more
doaj +1 more source
Chemical inhibition of β-glucocerebrosidase does not affect phagocytosis and early containment of Leishmania by murine macrophages [PDF]
, 2020 Gaucher disease is a lysosomal storage disease in which a genetic deficiency in β-glucocerebrosidase leads to the accumulation of glycosphingolipids in lysosomes. Macrophages are amongst the cells most severely affected in Gaucher disease patients.
Macedo, M. F. +3 more
core +1 more source
Biomedicines, 2023 Horse-derived ceramide (HC), which contains galactosylceramides as its main component, significantly improves skin symptoms when applied topically to patients with atopic dermatitis. We speculated that efficacy resulted from the amelioration of epidermal
Tami Igarashi +4 more
doaj +1 more source
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways [PDF]
, 2021 Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the ...
Schapira, AHV, Vieira, SRL
core +1 more source
Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster +13 more
wiley +2 more sources
Orphanet Journal of Rare Diseases, 2020 Background Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations.
Yoo-Mi Kim +9 more
doaj +1 more source
Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
Journal of Pediatric and Neonatal Individualized Medicine, 2019 In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin +3 more
doaj +1 more source