| Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. | Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A., Free PMC Article | 02/8/2024 |
| Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening. | Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening.
Gong X, Chen T, Lin C, Ping H, Tong X, Zhang K, Chen Z, Cai C, Lu Z, Ke H., Free PMC Article | 05/19/2023 |
| Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer. | Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer.
Zhang B, Ma Y, Niu H, Liu Z. | 05/7/2022 |
| Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. | Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Yıldız Y, Koşukcu C, Aygün D, Akçaboy M, Öztek Çelebi FZ, Taşcı Yıldız Y, Şahin G, Aytekin C, Yüksel D, Lay İ, Özgül RK, Dursun A. | 01/29/2022 |
| Mutation screening of VPS16 gene in patients with isolated dystonia. | Mutation screening of VPS16 gene in patients with isolated dystonia.
Li LX, Jiang LT, Liu Y, Zhang XL, Pan YG, Pan LZ, Nie ZY, Wan XH, Jin LJ. | 01/1/2022 |
| A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia. | A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havránková P, Winkelmann J, Zech M, Skorvanek M. | 11/13/2021 |
| Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. | Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH., Free PMC Article | 10/30/2021 |
| Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients. | Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.
Li XY, Wang L, Guo Y, Wan XH. | 05/8/2021 |
| Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. | Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J, Genomics England Research Consortium. | 12/19/2020 |
| VPS16 is a new causative gene for adolescent-onset primary dystonia. | Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.
Cai X, Chen X, Wu S, Liu W, Zhang X, Zhang D, He S, Wang B, Zhang M, Zhang Y, Li Z, Luo K, Cai Z, Li W., Free PMC Article | 03/31/2018 |
| HOPS subunit Vps16 recruits Vps33A to the human HOPS complex; residues 642-736 are necessary and sufficient for this interaction. | Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
Graham SC, Wartosch L, Gray SR, Scourfield EJ, Deane JE, Luzio JP, Owen DJ., Free PMC Article | 11/16/2013 |