| TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein. | TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein.
Wang CH, Wang LK, Wu CC, Chen ML, Kuo CY, Shyu RY, Tsai FM. | 06/2/2023 |
| Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.
Qiu S, Lavallée-Adam M, Côté M. | 03/5/2022 |
| Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. | Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N. | 10/23/2021 |
| Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. | Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S, Chen T, Dai Y, Wang Y, Wu F, Zhong M., Free PMC Article | 03/27/2021 |
| The patient fibroblasts showed extensive vacuolization, characteristic of VAC14-related disorders. | Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
Kaur P, Bhavani GS, Raj A, Girisha KM, Shukla A. | 03/14/2020 |
| Increased albuminuria in Vac14(L156R)-overexpressing mice is a consequence of a lowered endo- and transcytosis of albumin in renal tubules. | Nephron-specific knockin of the PIKfyve-binding-deficient Vac14(L156R) mutant results in albuminuria and mesangial expansion.
Michgehl U, Skryabin BV, Bayraktar S, Vollenbröker B, Ciarimboli G, Heitplatz B, Van Marck V, Gröne HJ, Pavenstädt H, Weide T. | 09/21/2019 |
| Nbeal2 interacts with Dock7, Sec16a, and Vac14. | Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L, Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH, Guerrero JA., Free PMC Article | 03/23/2019 |
| The association data demonstrated strong correlations between rs8060947 and VAC14 expression and between rs8060947 and S. Typhi invasion. The direction of effects for the different alleles led to the hypothesis that reducing VAC14 expression would increase S. Typhi invasion. | Human genetic variation in VAC14 regulates Salmonella invasion and typhoid fever through modulation of cholesterol.
Alvarez MI, Glover LC, Luo P, Wang L, Theusch E, Oehlers SH, Walton EM, Tram TTB, Kuang YL, Rotter JI, McClean CM, Chinh NT, Medina MW, Tobin DM, Dunstan SJ, Ko DC., Free PMC Article | 06/30/2018 |
| A genome-wide association study of a prospectively enrolled patient cohort identified an single nucleotide polymorphism in VAC14 that predicts sensitivity to docetaxel-induced peripheral neuropathy. | Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.
Hertz DL, Owzar K, Lessans S, Wing C, Jiang C, Kelly WK, Patel J, Halabi S, Furukawa Y, Wheeler HE, Sibley AB, Lassiter C, Weisman L, Watson D, Krens SD, Mulkey F, Renn CL, Small EJ, Febbo PG, Shterev I, Kroetz DL, Friedman PN, Mahoney JF, Carducci MA, Kelley MJ, Nakamura Y, Kubo M, Dorsey SG, Dolan ME, Morris MJ, Ratain MJ, McLeod HL., Free PMC Article | 01/6/2018 |
| Biallelic rare coding variants in VAC14 was identified in a female neonate with Yunis-Varon syndrome. Cultured patient fibroblasts exhibited a YVS-like vacuolation ameliorated by ML-SA1. | Yunis-Varón syndrome caused by biallelic VAC14 mutations.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P, Care4Rare Consortium, Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA., Free PMC Article | 12/9/2017 |
| The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14. | Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R., Free PMC Article | 05/20/2017 |
| Rab7 GAP TBC1D15 with Vac14. | The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway.
Schulze U, Vollenbröker B, Braun DA, Van Le T, Granado D, Kremerskothen J, Fränzel B, Klosowski R, Barth J, Fufezan C, Wolters DA, Pavenstädt H, Weide T., Free PMC Article | 02/21/2015 |
| a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. | ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
Ikonomov OC, Sbrissa D, Fligger J, Delvecchio K, Shisheva A., Free PMC Article | 09/20/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis | PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis.
Ikonomov OC, Sbrissa D, Fenner H, Shisheva A., Free PMC Article | 01/21/2010 |
| The authors data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. | ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.
Sbrissa D, Ikonomov OC, Fenner H, Shisheva A., Free PMC Article | 01/21/2010 |
| demonstrate a coupling between the machinery for PtdIns(3,5)P2 synthesis and turnover achieved through a physical assembly of PIKfyve, ArPIKfyve, and Sac3. | Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex.
Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A. | 01/21/2010 |
| describe a novel interaction between the PDZ domain of nitric oxide synthase and Vac14 | Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif.
Lemaire JF, McPherson PS. | 01/21/2010 |
| the PIKfyve-associated hVac14 protein has a major role in activating PIKfyve and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells | A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity.
Sbrissa D, Ikonomov OC, Strakova J, Dondapati R, Mlak K, Deeb R, Silver R, Shisheva A., Free PMC Article | 01/21/2010 |