Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2+)

Mutations in C19orf12 have been identified in patients affected by Neurodegeneration with Brain Iron Accumulation (NBIA), a clinical entity characterized by iron accumulation in the basal ganglia. By using western blot analysis with specific antibody and confocal studies, we showed that wild-type C1...

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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Venco, Paola, Bonora, Massimo, Giorgi, Carlotta, Papaleo, Elena, Iuso, Arcangela, Prokisch, Holger, Pinton, Paolo, Tiranti, Valeria
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2015
Schlagworte:
Pediatrics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470416/
https://ncbi.nlm.nih.gov/pubmed/26136767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00185
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