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Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

Paraplegin and AFG3L2 are ubiquitous nuclear-encoded mitochondrial proteins that form hetero-oligomeric paraplegin-AFG3L2 and homo-oligomeric AFG3L2 complexes in the inner mitochondrial membrane, named m-AAA proteases. These complexes ensure protein quality control in the inner membrane, jointly wit...

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Xehetasun bibliografikoak
Argitaratua izan da:J Neurosci
Egile Nagusiak: Maltecca, Francesca, Magnoni, Raffaella, Cerri, Federica, Cox, Gregory A., Quattrini, Angelo, Casari, Giorgio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Society for Neuroscience 2009
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6665556/
https://ncbi.nlm.nih.gov/pubmed/19625515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1532-09.2009
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