Property Summary

NCBI Gene PubMed Count 89
Grant Count 47
R01 Count 21
Funding $2,767,893.98
PubMed Score 98.30
PubTator Score 75.63

Knowledge Summary

Patent

No data available

Expression

Gene RIF (43)

PMID Text
26618722 VPS35 mutations cause mitochondrial fragmentation and cell death in cultured neurons in vitro, in mouse substantia nigra neurons in vivo and in human fibroblasts from an individual with PD who has the VPS35(D620N) mutation.
26547032 neither the R120W nor the N370S variant of the GBA gene nor D620N mutation of the VPS35 gene were detected among the Parkinson disease cases or the controls.
26300542 VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of Parkinson disease in the Greek population.
26251041 findings provide evidence that the VPS35 D620N mutation likely confers pathogenicity through a partial loss of function mechanism and that this may be linked to other known pathogenic mechanisms such as mitochondrial dysfunction
25937119 Data indicate that vesicular transport proteins VPS35 and VPS29 influence the levels of the other subunit of retromer.
25475142 This study demonstrated that Genetic variability of VPS35 in parkinsonism.
25416282 VPS35 p.D620N is loss-of-function mutation with respect to VPS35 regulating synaptic transmission and AMPA-type glutamate receptors recycling in mouse cortical neurons and dopamine neuron-like cells produced from stem cells of human p.D620N carriers.
25393110 Mutagenesis studies coupled with coimmunoprecipitations revealed that retromer-mediated trafficking requires the Env cytoplasmic tail that we show binds directly to retromer components Vps35 and Vps26.
25393110 The gp41 cytoplasmic tail binds directly to retromer components VPS26 and VPS35 in HIV-1-infected cells
25367362 provides molecular insights into the essential role of Vps26 and Vps35 in Rab7-mediated recruitment of the core retromer complex
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AA Sequence

MPTTQQSPQDEQEKLLDEAIQAVKVQSFQMKRCLDKNKLMDALKHASNMLGELRTSMLSPKSYYELYMAI      1 - 70
SDELHYLEVYLTDEFAKGRKVADLYELVQYAGNIIPRLYLLITVGVVYVKSFPQSRKDILKDLVEMCRGV     71 - 140
QHPLRGLFLRNYLLQCTRNILPDEGEPTDEETTGDISDSMDFVLLNFAEMNKLWVRMQHQGHSRDREKRE    141 - 210
RERQELRILVGTNLVRLSQLEGVNVERYKQIVLTGILEQVVNCRDALAQEYLMECIIQVFPDEFHLQTLN    211 - 280
PFLRACAELHQNVNVKNIIIALIDRLALFAHREDGPGIPADIKLFDIFSQQVATVIQSRQDMPSEDVVSL    281 - 350
QVSLINLAMKCYPDRVDYVDKVLETTVEIFNKLNLEHIATSSAVSKELTRLLKIPVDTYNNILTVLKLKH    351 - 420
FHPLFEYFDYESRKSMSCYVLSNVLDYNTEIVSQDQVDSIMNLVSTLIQDQPDQPVEDPDPEDFADEQSL    421 - 490
VGRFIHLLRSEDPDQQYLILNTARKHFGAGGNQRIRFTLPPLVFAAYQLAFRYKENSKVDDKWEKKCQKI    491 - 560
FSFAHQTISALIKAELAELPLRLFLQGALAAGEIGFENHETVAYEFMSQAFSLYEDEISDSKAQLAAITL    561 - 630
IIGTFERMKCFSEENHEPLRTQCALAASKLLKKPDQGRAVSTCAHLFWSGRNTDKNGEELHGGKRVMECL    631 - 700
KKALKIANQCMDPSLQVQLFIEILNRYIYFYEKENDAVTIQVLNQLIQKIREDLPNLESSEETEQINKHF    701 - 770
HNTLEHLRLRRESPESEGPIYEGLIL                                                771 - 796
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Publication (96)

PMID Year Title
27460146 2016 VPS35 regulates cell surface recycling and signaling of dopamine receptor D1.
27385586 2016 Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal Association of Retromer and Induces ?-Synuclein Aggregation.
26618722 2016 Parkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes.
26547032 2016 An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26300542 2015 D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.
26251041 2015 VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin.
26220253 2015 Retromer: Structure, function, and roles in mammalian disease.
26172538 2015 Retromer Ensures the Degradation of Autophagic Cargo by Maintaining Lysosome Function in Drosophila.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
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