Results 51 to 60 of about 10,389 (214)
Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering +6 more
wiley +1 more source
Gaucher’s Disease – current state of knowledge and future perspectives?
Journal of Education, Health and SportIntroduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in
Katarzyna Szymańska +7 more
doaj +1 more source
Allergy, EarlyView.ABSTRACT The skin is far from a passive shield; it functions as a dynamic “living barrier” whose structural and immunological integrity is paramount in preventing atopic dermatitis (AD) and the subsequent progression of the atopic march toward food allergy (FA).
Klaudia Ryczaj +4 more
wiley +1 more source
Glucocerebrosidase expression and analysis [PDF]
, 2008 Gaucher disease, an autosomal recessive disorder, is characterized by a heterogeneous set of signs and symptoms caused by a deficiency in the lysosomal enzyme glucocerebrosidase.
Campbell, Tessa Nicole.
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Mutant glucocerebrosidase stabilization with 1-deoxynojirimycin
, 2019 β-Glucocerebrosidase is a lysosomal enzyme responsible for the degradation of glucosylceramide, a glycosphingolipid that accumulates in the lysosomes. Mutations in the β-glucocerebrosidase gene result in reduced activity or misfolding and degradation of ...
Seraste, Erkka
core +1 more source
The FEBS Journal, EarlyView.Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley +1 more source
Polymorphisms in the human glucocerebrosidase gene
Genomics, 1992 The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone.
E, Beutler, C, West, T, Gelbart
openaire +2 more sources
Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
doaj +1 more source
Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse
Experimental Physiology, EarlyView.Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley +1 more source
Ambroxol effects in glucocerebrosidase and -synuclein transgenic mice [PDF]
, 2016 Objective. Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Schapira, AHV +3 more
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