Property Summary

NCBI Gene PubMed Count 47
Grant Count 47
R01 Count 37
Funding $6,519,703.58
PubMed Score 58.02
PubTator Score 40.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Gene RIF (15)

PMID Text
26149920 Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population.
25302295 Studying PD genes as a network regulating synaptic activity could bring insight into understanding the neuropathological processes of PD and help identify new genes at fault in this devastating disorder.
24927707 This study demonstrated that SYNJ1 was significantly higher in Down syndrome and correlated with several measures of Abeta. SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease.
24816432 This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20.
24609975 Our data suggest that the previously reported Arg258Gln mutation in SYNJ1 is not a frequent cause of Parkinson disease
24532203 the clinical progression of the Italian siblings with SYNJ1-related early-onset atypical parkinsonism seems to present a more severe progression in the early stages
24262182 This review presented that SYNJ1 in recessive forms of juvenile parkinsonism.
24052255 a novel mechanism by which reduction of a PI(4,5)P2-degrading enzyme, synj1, improves amyloid-induced neuropathology and behavior deficits through accelerating cellular Abeta clearance.
23804577 Results indicate that SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis.
23804563 Findings suggest that SYNJ1 mutation is responsible for the early-onset Parkinsonism phenotype probably due to deficiencies in its phosphatase activity and consequent impairment of its synaptic functions.
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AA Sequence

MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNL      1 - 70
GDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLD     71 - 140
LSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCE    141 - 210
RAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAP    211 - 280
AFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSV    281 - 350
LKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTR    351 - 420
FQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLA    421 - 490
DKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTD    491 - 560
WLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLAS    561 - 630
EQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKER    631 - 700
NEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVF    701 - 770
RGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYT    771 - 840
WTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFF    841 - 910
DDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEE    911 - 980
MSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSP    981 - 1050
CQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRP   1051 - 1120
APPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAG   1121 - 1190
YSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRL   1191 - 1260
QEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSF   1261 - 1330
NLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGL   1331 - 1400
TRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQ   1401 - 1470
STLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPP   1471 - 1540
PPVPLLPPGTSPPVDPFTTLASKASPTLDFTER                                        1541 - 1573
//

Text Mined References (54)

PMID Year Title
26149920 2015 Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
25302295 2014 Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
24927707 2014 Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.
24816432 2014 PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
24609975 2014 The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.
24532203 2014 Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262182 2014 Genetics of Parkinson's disease--state of the art, 2013.
24052255 2013 Reduction of synaptojanin 1 accelerates A? clearance and attenuates cognitive deterioration in an Alzheimer mouse model.
23804577 2013 Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
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