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Emerging pathways in genetic Parkinson’s disease: Autosomal‐recessive genes in Parkinson’s disease – a common pathway?
Author(s) -
Fitzgerald Julia C.,
PlunFavreau Helene
Publication year - 2008
Publication title -
the febs journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 204
eISSN - 1742-4658
pISSN - 1742-464X
DOI - 10.1111/j.1742-4658.2008.06708.x
Subject(s) - parkin , pink1 , genetics , parkinson's disease , biology , disease , mutation , neuroprotection , lrrk2 , gene , loss function , phenotype , neuroscience , medicine , pathology
Rare, inherited mutations causing familial forms of Parkinson’s disease have provided insight into the molecular mechanisms that underlie the genetic and sporadic forms of this disease. Loss of protein function resulting from autosomal‐recessive mutations in PTEN‐induced putative kinase 1 (PINK1), Parkin and DJ‐1 has been linked to mitochondrial dysfunction, accumulation of abnormal and misfolded proteins, impaired protein clearance and oxidative stress. Accumulating evidence suggests that wild‐type PINK1, Parkin and DJ‐1 may be key components of neuroprotective signalling cascades that run in parallel, interact via cross talk or converge in a common pathway.