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 Ca2+.

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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Detalhes bibliográficos
Main Authors: Paola eVenco, Massimo eBonora, Carlotta eGiorgi, Elena ePapaleo, Arcangela eIuso, Holger eProkisch, Paolo ePinton, Valeria eTiranti
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2015-05-01
Colecção:Frontiers in Genetics
Assuntos:
Mitochondria
Oxidative Stress
Molecular modeling and simulation
neurodegeneration with brain iron accumulation
Endoplasmic Reticulum-Mitochondria associated membranes (ER-MAM)
Acesso em linha:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00185/full
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