A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

Costeff Syndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome characterized by urinary excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia and extrapyramidal dysfunction. The OPA3 protein is enriched in th...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Pei, Wuhong, Kratz, Lisa E., Bernardini, Isa, Sood, Raman, Yokogawa, Tohei, Dorward, Heidi, Ciccone, Carla, Kelley, Richard I., Anikster, Yair, Burgess, Harold A., Huizing, Marjan, Feldman, Benjamin
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Company of Biologists 2010
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927703/
https://ncbi.nlm.nih.gov/pubmed/20627962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dev.043745
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