Satoh J.I., Kuroda Y.

Eur. J. Neurol. 9:15-18(2002) GAD 141968 GeneRIF 9627 · Mapped (17)
Not Associated with NEUROLOGICAL: Parkinson's disease; Case:55 Japanese patients with sporadic Parkinson's disease;Control:61 Japanese patients with non-Parkinson's disease GAD 141968 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 9627

Bandopadhyay R., de Silva R., Khan N., Graham E., Vaughan J., Engelender S., Ross C., Morris H., Morris C., Wood N.W. et al.

Neurosci. Lett. 307:125-127(2001) GeneRIF 9627 · Mapped (17)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 9627

O'Farrell C., Pickford F., Vink L., McGowan E., Cookson M.R.

Neurosci. Lett. 322:9-12(2002) GeneRIF 9627 · Mapped (26)
The amino acid sequence of synphilin-1 shows extensive homology with its human counterpart especially in regions containing ankyrin-like motifs and the coiled-coil domain. Expression of mouse synphilin-1 in tissues is similar to its human counterpart. GeneRIF 9627

Ito T., Niwa J., Hishikawa N., Ishigaki S., Doyu M., Sobue G.

J. Biol. Chem. 278:29106-29114(2003) GeneRIF 9627 · UniProtKB (2) · Mapped (19)
results suggest that synphilin-1 has an important role in the formation of aggregates and cytotoxicity in Parkinson disease and that Dorfin may be involved in the pathogenic process by ubiquitylation of synphilin-1 GeneRIF 9627

Marx F.P., Holzmann C., Strauss K.M., Li L., Eberhardt O., Gerhardt E., Cookson M.R., Hernandez D., Farrer M.J., Kachergus J. et al.

Hum. Mol. Genet. 12:1223-1231(2003) GeneRIF 9627 · UniProtKB (1) · Mapped (16)
a causative role of the R621C mutation in the synphilin-1 gene in Parkinson's disease GeneRIF 9627

Scherzer C.R., Jensen R.V., Gullans S.R., Feany M.B.

Hum. Mol. Genet. 12:2457-2466(2003) GeneRIF 9627 · Mapped (17)
Changes in synuclein expression presage neurodegeneration in a Drosophila model of Parkinson disease. GeneRIF 9627

Nagano Y., Yamashita H., Takahashi T., Kishida S., Nakamura T., Iseki E., Hattori N., Mizuno Y., Kikuchi A., Matsumoto M.

J. Biol. Chem. 278:51504-51514(2003) GeneRIF 9627 · UniProtKB (2) · Mapped (19)
Siah-1 was found to abrogate the inhibitory effects of synphilin-1 on dopamine release GeneRIF 9627

Tanaka M., Kim Y.M., Lee G., Junn E., Iwatsubo T., Mouradian M.M.

J. Biol. Chem. 279:4625-4631(2004) GeneRIF 9627 · Mapped (20)
role of aggresomes in cell viability was addressed in the context of over-expressing alpha-synuclein and its interacting partner synphilin-1 GeneRIF 9627

Maraganore D.M., Farrer M.J., Lesnick T.G., de Andrade M., Bower J.H., Hernandez D., Hardy J.A., Rocca W.A.

Mov. Disord. 18:1233-1239(2003) GeneRIF 9627 GAD 141969 · Mapped (17)
Not Associated with NEUROLOGICAL: Parkinson's disease; Control:195:controls;Case:319 Parkinsons's disease cases GAD 141969 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 9627

Lee G., Tanaka M., Park K., Lee S.S., Kim Y.M., Junn E., Lee S.H., Mouradian M.M.

J. Biol. Chem. 279:6834-6839(2004) GeneRIF 9627 · Mapped (27)
Casein kinase II (CKII) phosphorylates synphilin-1; beta subunit of this enzyme complex binds to synphilin-1. CKII-mediated phosphorylation of synphilin-1 rather than alpha-synuclein modulates the aggregation into inclusion bodies. GeneRIF 9627

Kruger R.

Cell Tissue Res. 318:195-199(2004) GeneRIF 9627 · Mapped (17)
role of synphilin-1 in synaptic function and protein degradation and in the molecular mechanisms leading to neurodegeneration in Parkinson disease GeneRIF 9627

Lim K.L., Chew K.C., Tan J.M., Wang C., Chung K.K., Zhang Y., Tanaka Y., Smith W., Engelender S., Ross C.A. et al.

J. Neurosci. 25:2002-2009(2005) GeneRIF 9627 · Mapped (31)
Parkin is a dual-function ubiquitin ligase. K63-linked ubiquitination of synphilin-1 by parkin may be involved in the formation of Lewy body inclusions associated with Parkinson disease. GeneRIF 9627

Bandopadhyay R., Kingsbury A.E., Muqit M.M., Harvey K., Reid A.R., Kilford L., Engelender S., Schlossmacher M.G., Wood N.W., Latchman D.S. et al.

Neurobiol. Dis. 20:401-411(2005) GeneRIF 9627 · Mapped (31)
We confirm that synphilin-1 and parkin are components of majority of Lewy Bodies in Parkinson's disease and that both proteins are susceptible to proteasomal degradation. GeneRIF 9627

Avraham E., Szargel R., Eyal A., Rott R., Engelender S.

J. Biol. Chem. 280:42877-42886(2005) GeneRIF 9627 · Mapped (24)
GSK3beta modulates synphilin-1 ubiquitylation and cellular inclusion formation by SIAH GeneRIF 9627

Eyal A., Szargel R., Avraham E., Liani E., Haskin J., Rott R., Engelender S.

Proc. Natl. Acad. Sci. U.S.A. 103:5917-5922(2006) GeneRIF 9627 · UniProtKB (1) · Mapped (19)
Synphilin-1A may contribute to neuronal degeneration in alpha-synuclein mutations and provides insights into the role of inclusion bodies in neurodegenerative disorders. GeneRIF 9627

Tanji K., Tanaka T., Mori F., Kito K., Takahashi H., Wakabayashi K., Kamitani T.

Am. J. Pathol. 169:553-565(2006) GeneRIF 9627 · Mapped (19)
These results suggest that NUB1 indeed targets synphilin-1 to the proteasome for its efficient degradation which because of the resultant reduction in synphilin-1 suppresses the formation of synphilin-1-positive inclusions. GeneRIF 9627

Marx F.P., Soehn A.S., Berg D., Melle C., Schiesling C., Lang M., Kautzmann S., Strauss K.M., Franck T., Engelender S. et al.

FASEB J. 21:1759-1767(2007) GeneRIF 9627 · Mapped (19)
a novel specific interaction of synphilin-1 with the regulatory proteasomal protein S6 ATPase (tbp7) in aggresome-like intracytoplasmic inclusions GeneRIF 9627

Humbert J., Beyer K., Carrato C., Mate J.L., Ferrer I., Ariza A.

Neurobiol. Dis. 26:681-687(2007) GeneRIF 9627 · Mapped (31)
These findings suggest that parkin and synphilin-1 isoform expression changes play a significant role in the pathogenesis of LB diseases. GeneRIF 9627

Szargel R., Rott R., Engelender S.

Cell. Mol. Life Sci. 65:80-88(2008) GeneRIF 9627 · Mapped (20)
review:Isoform Synphilin-1A inclusions recruit both alpha-synuclein and synphilin-1. Aggregation of synphilin-1 and synphilin-1A seems to be protective to cells GeneRIF 9627

Bonin M., Marx F.P., Kautzmann S., Riess O., Kruger R.

J Neural Transm 115:941-958(2008) GeneRIF 9627 · Mapped (17)
specific effects of C621 mutant synphilin-1 on gene expression that correlate with its role as a susceptibility factor in Parkinson's disease GeneRIF 9627

Beyer K., Domingo-Sabat M., Humbert J., Carrato C., Ferrer I., Ariza A.

Neurogenetics 9:163-172(2008) GeneRIF 9627 · Mapped (34)
All four alpha-synuclein isoforms were affected in dementia with LB (Lewy bodies) most parkin transcript variants in common LB disease and all synphilin-1 isoforms in Parkinson disease. GeneRIF 9627

Myhre R., Klungland H., Farrer M.J., Aasly J.O.

BMC Med. Genet. 9:19-19(2008) GeneRIF 9627 · Mapped (17)
We found no evidence for association between genetic variability in synphilin-1 and Parkinson's disease; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 9627

Zaarur N., Meriin A.B., Gabai V.L., Sherman M.Y.

J. Biol. Chem. 283:27575-27584(2008) GeneRIF 9627 · Mapped (17)
translocation to aggresomes required a special aggresome-targeting signal within the sequence of synphilin 1 an ankyrin-like repeat domain. GeneRIF 9627

Jin H.G., Yamashita H., Nakamura T., Fukuba H., Takahashi T., Hiji M., Kohriyama T., Matsumoto M.

Neurosci. Lett. 445:12-17(2008) GeneRIF 9627 · Mapped (17)
Synphilin-1 might be involved in motor function and its accumulation in the central nervous system can cause motor impairments. GeneRIF 9627