UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3
Disease: Hallopeau-Siemens Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.010 AlteredExpression disease BEFREE Amlexanox increased COL7A1 transcript and the phosphorylation of UPF-1, an RNA helicase associated with nonsense-mediated mRNA decay, suggesting that amlexanox inhibits nonsense-mediated mRNA decay in cells from patients with RDEB that respond to read-through treatment. 28549954 2017