TY - JOUR
T1 - Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease
AU - Franck, T.
AU - Krueger, R.
AU - Woitalla, D.
AU - Müller, T.
AU - Engelender, S.
AU - Riess, O.
PY - 2006/12
Y1 - 2006/12
N2 - Seven in absentia homolog 1 (SIAH-1) is a member of the RING-finger-containing E3 ubiquitin ligases. Two substrates of SIAH-1 are α-synuclein and synphilin-1, both of these proteins are involved in Parkinson's disease (PD). Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated α-synuclein, have been defined as a major cause of autosomal recessive PD. The potential role of SIAH-1 in PD is further underlined as SIAH-1 protein is a component of the Lewy bodies and as it plays a role in apoptosis caused by nitric oxide (NO) induced oxidative stress. Thus, we performed a mutation screening of the SIAH-1 gene in PD patients. However, screening a large sample of 209 familial and sporadic PD patients we could not find any disease causing mutation. We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD.
AB - Seven in absentia homolog 1 (SIAH-1) is a member of the RING-finger-containing E3 ubiquitin ligases. Two substrates of SIAH-1 are α-synuclein and synphilin-1, both of these proteins are involved in Parkinson's disease (PD). Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated α-synuclein, have been defined as a major cause of autosomal recessive PD. The potential role of SIAH-1 in PD is further underlined as SIAH-1 protein is a component of the Lewy bodies and as it plays a role in apoptosis caused by nitric oxide (NO) induced oxidative stress. Thus, we performed a mutation screening of the SIAH-1 gene in PD patients. However, screening a large sample of 209 familial and sporadic PD patients we could not find any disease causing mutation. We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD.
KW - Alpha-synuclein
KW - Parkinson's disease
KW - SIAH-1
UR - http://www.scopus.com/inward/record.url?scp=33751015455&partnerID=8YFLogxK
U2 - 10.1007/s00702-006-0480-z
DO - 10.1007/s00702-006-0480-z
M3 - Article
C2 - 16752048
AN - SCOPUS:33751015455
SN - 0300-9564
VL - 113
SP - 1903
EP - 1908
JO - Journal of Neural Transmission
JF - Journal of Neural Transmission
IS - 12
ER -