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    VPS13C vacuolar protein sorting 13 homolog C [ Homo sapiens (human) ]

    Gene ID: 54832, updated on 9-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.

    VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.
    Schrӧder LF, Peng W, Gao G, Wong YC, Schwake M, Krainc D., Free PMC Article

    02/16/2024
    In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts.

    In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts.
    Cai S, Wu Y, Guillén-Samander A, Hancock-Cerutti W, Liu J, De Camilli P., Free PMC Article

    08/6/2022
    ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling.

    ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling.
    Hancock-Cerutti W, Wu Z, Xu P, Yadavalli N, Leonzino M, Tharkeshwar AK, Ferguson SM, Shadel GS, De Camilli P., Free PMC Article

    06/11/2022
    VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.

    VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
    Monfrini E, Spagnolo F, Canesi M, Seresini A, Rini A, Passarella B, Percetti M, Seia M, Goldwurm S, Cereda V, Comi GP, Pezzoli G, Di Fonzo A.

    04/23/2022
    Familial dementia with Lewy bodies with VPS13C mutations.

    Familial dementia with Lewy bodies with VPS13C mutations.
    Kobayashi R, Naruse H, Koyama S, Kawakatsu S, Hayashi H, Ishiura H, Mitsui J, Ohta Y, Toda T, Tsuji S, Otani K.

    12/25/2021
    Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.

    Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.
    Bai X, Liu X, Li X, Li W, Xie A.

    12/4/2021
    Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.

    Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
    Smolders S, Philtjens S, Crosiers D, Sieben A, Hens E, Heeman B, Van Mossevelde S, Pals P, Asselbergh B, Dos Santos Dias R, Vermeiren Y, Vandenberghe R, Engelborghs S, De Deyn PP, Martin JJ, Cras P, Annaert W, Van Broeckhoven C, BELNEU consortium., Free PMC Article

    11/22/2021
    Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.

    Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.
    Gu X, Li C, Chen Y, Ou R, Cao B, Wei Q, Hou Y, Zhang L, Song W, Zhao B, Wu Y, Shang H.

    07/3/2021
    TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.

    TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.
    Hook SC, Chadt A, Heesom KJ, Kishida S, Al-Hasani H, Tavaré JM, Thomas EC., Free PMC Article

    04/13/2021
    human VPS13A and VPS13C bind to the ER, tethering it to mitochondria (VPS13A), to late endosome/lysosomes (VPS13C), and to lipid droplets (both VPS13A and VPS13C).

    VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.
    Kumar N, Leonzino M, Hancock-Cerutti W, Horenkamp FA, Li P, Lees JA, Wheeler H, Reinisch KM, De Camilli P., Free PMC Article

    09/28/2019
    the identification and characterization of a large L1 retrotransposition-mediated VPS13C deletion in a patient with parkinsonism

    Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.
    Darvish H, Bravo P, Tafakhori A, Azcona LJ, Ranji-Burachaloo S, Johari AH, Paisán-Ruiz C., Free PMC Article

    09/14/2019
    Despite the low diagnostic yield of exome sequencing in sporadic early-onset PD, the confirmation of the recently discovered VPS13C gene highlights its advantage over using predefined gene panels.

    Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
    Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J.

    09/14/2019
    Knockdown of VPS13C-has-circ-001567 significantly promoted apoptosis and inhibited the proliferation of SKOV3 and OV-1063 cells in vitro. Knockdown of VPS13C-has-circ-001567 led to cell cycle arrest at G1 phase and decreased the percentage of S1 phase cells. Knockdown of VPS13C-has-circ-001567 decreased the invasion ability of SKOV3 and OV-1063 cells.

    Upregulation of Circular RNA VPS13C-has-circ-001567 Promotes Ovarian Cancer Cell Proliferation and Invasion.
    Bao L, Zhong J, Pang L.

    07/20/2019
    Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697.

    Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population.
    Yang X, Zheng J, An R, Tian S, Zhao Q, Chen Y, Huang H, Ning PP, Song Y, Xu Y.

    03/24/2018
    The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved.

    Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.
    Mehta ZB, Fine N, Pullen TJ, Cane MC, Hu M, Chabosseau P, Meur G, Velayos-Baeza A, Monaco AP, Marselli L, Marchetti P, Rutter GA., Free PMC Article

    06/24/2017
    This study found that rs2414739 (VPS13C) is associated with Parkinson disease in IRAN population.

    SIPA1L2, MIR4697, GCH1 and VPS13C loci and risk of Parkinson's diseases in Iranian population: A case-control study.
    Safaralizadeh T, Jamshidi J, Esmaili Shandiz E, Movafagh A, Fazeli A, Emamalizadeh B, Manafi N, Taghavi S, Tafakhori A, Darvish H.

    05/20/2017
    We describe truncating mutations in VPS13C associated with early-onset parkinsonism with rapid progression and widely distributed Lewy bodies.

    Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
    Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A, French Parkinson's Disease Genetics Study (PDG), International Parkinson's Disease Genomics Consortium (IPDGC)., Free PMC Article

    07/30/2016
    no detectable effect (with an OR >2.1) of the variants in GCKR, GIPR, ADCY5 and VPS13C on the response to sulfonylurea treatment, indicating that these variants are not significantly contributing to the risk of SH in patients with T2D

    Genetic variants in GCKR, GIPR, ADCY5 and VPS13C and the risk of severe sulfonylurea-induced hypoglycaemia in patients with type 2 diabetes.
    Holstein JD, Patzer O, Körner A, Stumvoll M, Kovacs P, Holstein A.

    06/22/2013
    The role of four loci (ADCY5, GIPR, GCKR and VPS13C) in early impairment of glucose and insulin metabolism in children, was investigated.

    Effects of genetic variants in ADCY5, GIPR, GCKR and VPS13C on early impairment of glucose and insulin metabolism in children.
    Windholz J, Kovacs P, Tönjes A, Dittrich K, Blüher S, Kiess W, Stumvoll M, Körner A., Free PMC Article

    11/26/2011
    The diabetogenic VPS13C/C2CD4A/C2CD4B rs7172432 A allele associates with glucose-stimulated insulin response in non-diabetic individuals from the general population, suggesting an impaired beta cell function as an intermediary diabetes-related trait.

    The diabetogenic VPS13C/C2CD4A/C2CD4B rs7172432 variant impairs glucose-stimulated insulin response in 5,722 non-diabetic Danish individuals.
    Grarup N, Overvad M, Sparsø T, Witte DR, Pisinger C, Jørgensen T, Yamauchi T, Hara K, Maeda S, Kadowaki T, Hansen T, Pedersen O.

    08/6/2011
    Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)

    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH, GIANT consortium, MAGIC investigators, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM., Free PMC Article

    04/7/2010
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