GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts
| Autor: | Andy Willaert, Rosella Fulceri, Gábor Bánhegyi, Tamás Hegedűs, Giulia Carini, Éva Margittai, Csilla E. Németh, Marina Colombi, Nicoletta Zoppi, Paola Marcolongo, Angiolo Benedetti, Marco Ritelli, András Szarka, Paul Coucke, Nicola Chiarelli, Bert Callewaert, Alessandra Gamberucci |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
LIVER MICROSOMAL VESICLES Vascular Malformations Glucose Transport Proteins Facilitative Intracellular Space Fluorescent Antibody Technique Mitochondrion Arterial tortuosity syndrome Dehydroascorbic acid Endoplasmic reticulum Fe2+/2-oxoglutarate dependent dehydrogenases GLUT10 Nuclear envelope Catalysis Molecular Biology Computer Science Applications1707 Computer Vision and Pattern Recognition Spectroscopy Physical and Theoretical Chemistry Organic Chemistry Inorganic Chemistry lcsh:Chemistry 0302 clinical medicine MITOCHONDRIA Medicine and Health Sciences PREDICTING SUBCELLULAR-LOCALIZATION arterial tortuosity syndrome dehydroascorbic acid endoplasmic reticulum nuclear envelope OXIDATIVE STRESS Protein disulfide-isomerase lcsh:QH301-705.5 Skin Diseases Genetic General Medicine Arteries Computer Science Applications Cell biology Transport protein Protein Transport Biochemistry Protein Binding Joint Instability Biology Article 03 medical and health sciences Fe2+ Microsomes medicine Humans 2-oxoglutarate dependent dehydrogenases MUTATIONS Glucose transporter Biology and Life Sciences Fibroblasts medicine.disease Ascorbic acid GLUCOSE-TRANSPORTER 030104 developmental biology ACID TRANSPORT lcsh:Biology (General) lcsh:QD1-999 ASCORBIC-ACID Microsome TERMINAL TARGETING SEQUENCES 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Molecular Sciences INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES International Journal of Molecular Sciences; Volume 18; Issue 8; Pages: 1820 International Journal of Molecular Sciences, Vol 18, Iss 8, p 1820 (2017) |
| ISSN: | 1422-0067 |
| Popis: | GLUT10 belongs to a family of transporters that catalyze the uptake of sugars/polyols by facilitated diffusion. Loss-of-function mutations in the SLC2A10 gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS). Since subcellular distribution of the transporter is dubious, we aimed to clarify the localization of GLUT10. In silico GLUT10 localization prediction suggested its presence in the endoplasmic reticulum (ER). Immunoblotting showed the presence of GLUT10 protein in the microsomal, but not in mitochondrial fractions of human fibroblasts and liver tissue. An even cytosolic distribution with an intense perinuclear decoration of GLUT10 was demonstrated by immunofluorescence in human fibroblasts, whilst mitochondrial markers revealed a fully different decoration pattern. GLUT10 decoration was fully absent in fibroblasts from three ATS patients. Expression of exogenous, tagged GLUT10 in fibroblasts from an ATS patient revealed a strict co-localization with the ER marker protein disulfide isomerase (PDI). The results demonstrate that GLUT10 is present in the ER. |
| Databáze: | OpenAIRE |
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