FXN, frataxin, 2395

N. diseases: 181; N. variants: 12
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.030 AlteredExpression disease BEFREE These lentivectors can knockdown frataxin expression in human neuroblastoma SH-SY5Y cells, which results in large-scale cell death in differentiated neuron-like cells but not in undifferentiated neuroblastoma cells. 21531789 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.030 AlteredExpression disease BEFREE Alterations in genes encoding nfs-1, frataxin and isd-11 that could lead to a diminished SDH activity have not been detected in NB. 20398431 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.030 AlteredExpression disease BEFREE We show in this paper for the first time that Azelaoyl PAF significantly increases the intracellular frataxin levels by twofold in the neuroblastoma cell line SKNBE and fibroblasts from FRDA patients and that Azelaoyl PAF increases frataxin protein through a transcriptional mechanism. 19104905 2009