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Defective pantothenate metabolism and neurodegeneration
Inborn errors of CoA (coenzyme A) biosynthesis lead to neurodegenerative disorders in humans. PKAN (pantothenate kinase-associated neurodegeneration) manifests with damage to brain, retina and testis and is caused by mutations in PANK2, the gene encoding the mitochondrial form of pantothenate kinase...
Guardat en:
| Publicat a: | Biochem Soc Trans |
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| Autor principal: | |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5906047/ https://ncbi.nlm.nih.gov/pubmed/25110003 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BST20140098 |
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