Results 101 to 110 of about 9,175 (221)
Sphingolipids: the nexus between Gaucher disease and insulin resistance
Lipids in Health and Disease, 2010 Sphingolipids constitute a diverse array of lipids in which fatty acids are linked through amide bonds to a long-chain base, and, structurally, they form the building blocks of eukaryotic membranes.
Fuller Maria
doaj +1 more source
Current facts in the treatment of Gaucher disease [PDF]
Background. Gaucher disease (GD) is a rare metabolic disease with autosomal recessive transmission, caused by the mutation of the GBA gene, which causes a deficient synthesis of the enzyme β- glucocerebrosidase.
Sidorenko, Ludmila, Rotaru, Ludmila
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Mass spectrometry proteomics for studying mitostasis
Protein Science, Volume 35, Issue 7, July 2026.Abstract Maintaining mitochondrial integrity and function is fundamental to cellular homeostasis. Cells rely on coordinated protein quality control (QC) systems—including intricate chaperone‐protease networks, the ubiquitin‐proteasome system, and cytosolic surveillance pathways—that together form a dynamic, cell‐wide mitostasis network governing the ...
Lakshita Sharma +5 more
wiley +1 more source
, 2009 [[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the β-glucosidase gene.
Lei Wan;Hsu CM;Chang-Hai Tsai;Lee,Chun-Cheng;Hwu WL;Tsai,Fuu-Jen
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What Job Would You Apply To? Findings on the Impact of Language on Job Searches
Gender, Work &Organization, Volume 33, Issue 4, Page 1270-1282, July 2026.ABSTRACT This study examines whether gender‐inclusive language in job advertisements can increase women's interest in applying for male‐dominated occupations. We implemented a discrete choice experiment with 5679 participants in Argentina, Chile, Colombia, Mexico, and Peru. Each respondent evaluates multiple paired ads for the same job with job content
Ana Maria Diaz +3 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2001 Here we report two unusual patients with Gaucher disease type I. Both girls admitted with hepatosplenomegaly, growth retardation, and anemia at four and 2.5 years of age, and Gaucher cells were seen on bone marrow aspirates.
F Gürakan, N Koçak, A Yüce, H Ozen
doaj
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis
European Journal of Histochemistry, 2009 We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells.
R. Saxena +4 more
doaj +1 more source
Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents
Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev +5 more
wiley +1 more source
Glucosylsphingosine affects mitochondrial function in a neuronal cell model
Communications BiologyGaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko +6 more
doaj +1 more source
, 2008 Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the beta- glucosidase gene.
許欽木;蔡長梅;李正淳;胡務亮;蔡輔仁 +1 more
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