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+

Frontiers in Genetics

Volumn 6, Issue MAY, 2015, Pages

  Venco, Paola ^a   Bonora, Massimo ^b   Giorgi, Carlotta ^b   Papaleo, Elena ^c   Iuso, Arcangela ^d,e   Prokisch, Holger ^d,e   Pinton, Paolo ^b   Tiranti, Valeria ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

Endoplasmic reticulum mitochondria associated membranes (ER MAM); Mitochondria; Molecular modeling; Neurodegeneration with brain iron accumulation; Oxidative stress; Simulation

Indexed keywords

AEQUORIN; CALCIUM ION; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; C19ORF12 GENE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; HUMAN CELL; IMAGE ANALYSIS; IMMUNOCYTOCHEMISTRY; MOLECULAR MODEL; MUTAGENESIS; OXIDATIVE STRESS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN LOCALIZATION; REAL TIME POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

EID: 84939811693     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2015.00185     Document Type: Article

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