SEPTIN4, septin 4, 5414

N. diseases: 48; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE The mediation of apoptosis-related protein in the TGF-β signaling pathway (ARTS) and X-liked inhibitor of apoptosis protein (XIAP) by parkin plays a critical role in preventing Parkinson's disease. 28224479 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE Furthermore, we demonstrate that Nedd4, another E3 ubiquitin ligase that may have a role in PD, is functionally related to Sep4 and could be involved in regulating Sep4 subcellular localization/trafficking. 22562816 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE We present for the first time similar signal expression patterns and parallel accumulation of SEPT4 and alpha-synuclein in well-characterized postmortem PD brain. 18951507 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE Taken together, these data show that Sept4 may be involved in PD as a dual susceptibility factor, as its insufficiency can diminish dopaminergic neurotransmission and enhance alpha-synuclein neurotoxicity. 17296554 2007