Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1α/LRP130 complex

Leigh syndrome French Canadian variant (LSFC) is an autosomal recessive neurodegenerative disorder due to mutation in the LRP130 (leucine-rich protein 130 kDa) gene. Unlike classic Leigh syndrome, the French Canadian variant spares the heart, skeletal muscle, and kidneys, but severely affects the li...

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Bibliografske podrobnosti
Main Authors: Cooper, Marcus P., Qu, Lishu, Rohas, Lindsay M., Lin, Jiandie, Yang, Wenli, Erdjument-Bromage, Hediye, Tempst, Paul, Spiegelman, Bruce M.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2006
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Research Paper
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1620022/
https://ncbi.nlm.nih.gov/pubmed/17050673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.1483906
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