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Document type:
journal article 
Author(s):
Iuso, Arcangela; Sibon, Ody C M; Gorza, Matteo; Heim, Katharina; Organisti, Cristina; Meitinger, Thomas; Prokisch, Holger 
Title:
Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration. 
Abstract:
Mutations in the orphan gene C19orf12 were identified as a genetic cause in a subgroup of patients with NBIA, a neurodegenerative disorder characterized by deposits of iron in the basal ganglia. C19orf12 was shown to be localized in mitochondria, however, nothing is known about its activity and no functional link exists to the clinical phenotype of the patients. This situation led us to investigate the effects of C19orf12 down-regulation in the model organism Drosophila melanogaster. Two genes a...    »
 
Journal title abbreviation:
PLoS ONE 
Year:
2014 
Journal volume:
Journal issue:
Pages contribution:
e89439 
Language:
eng 
TUM Institution:
Institut für Humangenetik