Disease: Familial partial lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.030 GeneticVariation disease BEFREE The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. 25524705 2015
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.030 GeneticVariation disease BEFREE In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. 21993218 2011
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.030 GeneticVariation disease BEFREE The binding of lamin A to SREBP1 was noticeably reduced by FPLD mutations. 11929849 2002