Conference
Yeast as a model system for diseases associated with defective coenzyme a metabolism
| العنوان: | Yeast as a model system for diseases associated with defective coenzyme a metabolism |
|---|---|
| المؤلفون: | CECCATELLI BERTI, Camilla, DALLABONA, Cristina, CARNEVALI, CHIARA, Pettenati Elisa, Dusi Sabrina, Tiranti Valeria, GOFFRINI, Paola |
| المساهمون: | CECCATELLI BERTI, Camilla, Dallabona, Cristina, Carnevali, Chiara, Pettenati, Elisa, Dusi, Sabrina, Tiranti, Valeria, Goffrini, Paola |
| سنة النشر: | 2015 |
| المجموعة: | Università di Parma: CINECA IRIS |
| الوصف: | Mutations in nuclear genes associated with defective Coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN. PKAN are defined by mutations in PANK2, encoding the pantothenate kinase 2 enzyme, that account for about 50% of cases of NBIA, whereas mutations in CoA synthase COASY have been recently reported as the second inborn error of CoA synthesis leading to CoPAN. To investigate if defective CoA metabolism could underlie a more general disequilibrium of lipid metabolism and mitochondrial dysfunctions and its relationship with brain iron accumulation, we have performed phenotypic and biochemical investigation in a recently developed yeast model expressing the pathogenic missense mutation COASYR499C found in CoPAN patients. The results obtained showed that yeast mutant defective in CoA biosynthesis has altered mitochondrial function, lipid content and iron metabolism thus partially recapitulating the phenotypes found in patients and establishing yeast as a potential model to help elucidating the pathogenesis underlying this disease. |
| نوع الوثيقة: | conference object |
| اللغة: | English |
| Relation: | ispartofbook:27th International Conference on Yeast Genetics and Molecular Biology; 27th International Conference on Yeast Genetics and Molecular Biology; volume:32; firstpage:175; lastpage:175; numberofpages:1; journal:YEAST; http://hdl.handle.net/11381/2795852 |
| الاتاحة: | http://hdl.handle.net/11381/2795852 |
| رقم الانضمام: | edsbas.23CE237A |
| قاعدة البيانات: | BASE |
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