Annotation Detail
Information
- Associated Genes
- UTRN
- Associated Variants
-
LRRK2 p.Arg1441Gly (p.R1441G)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Arg1441Cys (p.R1441C) ( ENST00000680790.1, ENST00000298910.12 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 )
UTRN p.Arg1449Cys (p.R1449C) ( ENST00000367545.8 )
LRRK2 p.Arg1441Gly (p.R1441G) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1441Cys (p.R1441C) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 )
UTRN p.Arg1449Cys (p.R1449C) ( ENST00000367545.8 ) - Associated Disease
- Parkinson Disease, Familial, Type 1
- Source Database
- DisGeNET
- Description
- We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragmentation along with increased mitochondrial dynamin-like protein (DLP1, also known as DRP1), a fission protein, which was further exacerbated by expression of PD-associated mutants (R1441C or G2019S) in both SH-SY5Y and differentiated primary cortical neurons.
- Pubmed
- 22228096
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs