These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. van der Kant R; Jonker CT; Wijdeven RH; Bakker J; Janssen L; Klumperman J; Neefjes J J Biol Chem; 2015 Dec; 290(51):30280-90. PubMed ID: 26463206 [TBL] [Abstract][Full Text] [Related]
3. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Smith H; Galmes R; Gogolina E; Straatman-Iwanowska A; Reay K; Banushi B; Bruce CK; Cullinane AR; Romero R; Chang R; Ackermann O; Baumann C; Cangul H; Cakmak Celik F; Aygun C; Coward R; Dionisi-Vici C; Sibbles B; Inward C; Kim CA; Klumperman J; Knisely AS; Watson SP; Gissen P Hum Mutat; 2012 Dec; 33(12):1656-64. PubMed ID: 22753090 [TBL] [Abstract][Full Text] [Related]
4. Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. Seo SH; Hwang SM; Ko JM; Ko JS; Hyun YJ; Cho SI; Park H; Kim SY; Seong MW; Park SS Clin Genet; 2015 Jul; 88(1):80-4. PubMed ID: 24917129 [TBL] [Abstract][Full Text] [Related]
5. VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Rogerson C; Gissen P Biochim Biophys Acta Mol Basis Dis; 2018 May; 1864(5 Pt A):1609-1621. PubMed ID: 29409756 [TBL] [Abstract][Full Text] [Related]
6. ARC syndrome with high GGT cholestasis caused by VPS33B mutations. Wang JS; Zhao J; Li LT World J Gastroenterol; 2014 Apr; 20(16):4830-4. PubMed ID: 24782640 [TBL] [Abstract][Full Text] [Related]
7. Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome. Penon-Portmann M; Westbury SK; Li L; Pluthero FG; Liu RJY; Yao HHY; Geng RSQ; Warner N; Muise AM; Lotz-Esquivel S; Howell-Ramirez M; Saborío-Chacon P; Fernández-Rojas S; Saborio-Rocafort M; Jiménez-Hernández M; Wang-Zuniga C; Cartín-Sánchez W; Shieh JT; Badilla-Porras R; Kahr WHA J Thromb Haemost; 2022 Jul; 20(7):1712-1719. PubMed ID: 35325493 [TBL] [Abstract][Full Text] [Related]
8. ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. Akbar MA; Mandraju R; Tracy C; Hu W; Pasare C; Krämer H Immunity; 2016 Aug; 45(2):267-79. PubMed ID: 27496733 [TBL] [Abstract][Full Text] [Related]
10. [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome]. Huang DG; Liu JJ; Guo L; Song YZ Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1077-1082. PubMed ID: 29046204 [TBL] [Abstract][Full Text] [Related]
11. Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. Qiu YL; Liu T; Abuduxikuer K; Hao CZ; Gong JY; Zhang MH; Li LT; Yan YY; Li JQ; Wang JS Hum Mutat; 2019 Dec; 40(12):2247-2257. PubMed ID: 31479177 [TBL] [Abstract][Full Text] [Related]
12. A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. Moon AT; Christensen T; Streicher JL; Castelo-Soccio L Pediatr Dermatol; 2017 Jul; 34(4):e171-e173. PubMed ID: 28544027 [TBL] [Abstract][Full Text] [Related]
13. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype. Yu L; Li D; Zhang T; Xiao Y; Wang Y; Ge T BMC Nephrol; 2022 Jun; 23(1):228. PubMed ID: 35761207 [TBL] [Abstract][Full Text] [Related]
14. Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. Aflatounian M; Smith H; Farahani F; Tofighi Naeem A; Straatman-Iwanowska A; Zoghi S; Khatri U; Tajdini P; Fallahi GH; Gissen P; Rezaei N Eur J Med Genet; 2016 Apr; 59(4):237-9. PubMed ID: 26808426 [TBL] [Abstract][Full Text] [Related]
15. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. Hunter MR; Hesketh GG; Benedyk TH; Gingras AC; Graham SC J Mol Biol; 2018 Jul; 430(14):2153-2163. PubMed ID: 29778605 [TBL] [Abstract][Full Text] [Related]
16. Vps33B is required for delivery of endocytosed cargo to lysosomes. Galmes R; ten Brink C; Oorschot V; Veenendaal T; Jonker C; van der Sluijs P; Klumperman J Traffic; 2015 Dec; 16(12):1288-305. PubMed ID: 26403612 [TBL] [Abstract][Full Text] [Related]
17. Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China. Li LT; Zhao J; Chen R; Wang JS World J Gastroenterol; 2014 Jan; 20(1):326-9. PubMed ID: 24415890 [TBL] [Abstract][Full Text] [Related]
18. ARC syndrome. Mutlu M; Aslan Y; Aktürk-Acar F; Çakır M; Erduran E; Kalyoncu M Turk J Pediatr; 2017; 59(4):487-490. PubMed ID: 29624233 [TBL] [Abstract][Full Text] [Related]
19. SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery. Zhu GD; Salazar G; Zlatic SA; Fiza B; Doucette MM; Heilman CJ; Levey AI; Faundez V; L'hernault SW Mol Biol Cell; 2009 Feb; 20(4):1223-40. PubMed ID: 19109425 [TBL] [Abstract][Full Text] [Related]
20. Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes. Dai J; Lu Y; Wang C; Chen X; Fan X; Gu H; Wu X; Wang K; Gartner TK; Zheng J; Chen G; Wang X; Liu J J Pathol; 2016 Sep; 240(1):108-19. PubMed ID: 27319744 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]