Category
Metabolic disorders
Related publications (15)
Post-translational regulation of neuronal differentiation
Glycosphingolipids (GSLs) are amphipathic lipid moieties that make up only 3% of the total lipid content of the cell and are almost exclusively expressed at the Plasma Membrane(PM). They are key drivers of signalling hotspots known as âlipid-raftsâ as ...
EPFL2021Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome
Maurizio Molinari, Andrea Cavalli
Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of w ...
2020Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]
Jonathan Paz Montoya, Marc Moniatte
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also i ...
2019Metabolic Disturbances in Diseases with Neurological Involvement
Degeneration of specific neuronal populations and progressive nervous system dysfunction characterize neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. These findings are also reported in inherited diseases such as phenylke ...
Int Soc Aging & Disease2014Hyperpolarized 13C lactate as a substrate for in vivo metabolic studies in skeletal muscle
Rolf Gruetter, Arnaud Comment, Josefina Adriana Maria Bastiaansen, Hikari Ananda Infinity Yoshihara, Yuhei Takado
Resting skeletal muscle has a preference for the oxidation of lipids compared to carbohydrates and a shift towards carbohydrate oxidation is observed with increasing exercise. Lactate is not only an end product in skeletal muscle but also an important meta ...
2014Altered expression of beta-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knockout mouse model of Leber's congenital amaurosis
Purpose: In this study, we investigated the expression of the gene encoding beta-galactosidase (Glb)-1-like protein 3 (Glb1l3), a member of the glycosyl hydrolase 35 family, during retinal degeneration in the retinal pigment epithelium (RPE)-specific 65-kD ...
2011Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels
Genetic and chemically induced neuronopathic mouse models of Gaucher disease were developed to facilitate understanding of the reversibility and/or progression of CNS involvement. The lethality of the skin permeability barrier defect of the complete gene k ...
2008Dietary manipulation of mouse metabolism
The maintenance of metabolic homeostasis relies on the balanced intake of nutrients from food. Consequently, diet composition strongly impacts whole-body physiology. Dietary formulations with strong nutrient imbalances can lead to metabolic disorders, with ...
Wiley2008Late endosomal cholesterol accumulation leads to impaired intra-endosomal trafficking
Françoise Gisou van der Goot Grunberg
BACKGROUND: Pathological accumulation of cholesterol in late endosomes is observed in lysosomal storage diseases such as Niemann-Pick type C. We here analyzed the effects of cholesterol accumulation in NPC cells, or as phenocopied by the drug U18666A, on l ...
Public Library of Science2007Peroxisome proliferator-activated receptor gamma, the ultimate liaison between fat and transcription
The peroxisome proliferator-activated receptor gamma (PPARgamma) is nuclear receptor that controls the expression of a large number of genes involved in adipocyte differentiation, lipid storage and insulin sensitization. PPARgamma is bound and activated by ...
2001