| 1 | SCAR29, VPS41
|
| Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
|
| Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimian EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N
|
| Brain. Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. 2021
|
| 2 | VPS41
|
| Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion
|
| Burns CH, Yau B, Rodriguez A, Triplett J, Maslar D, An YS, van der Welle REN, Kossina RG, Fisher MR, Strout GW, Bayguinov PO, Veenendaal T, Chitayat D, Fitzpatrick JAJ, Klumperman J, Kebede MA, Asensio CS.
|
| Diabetes. Feb;70(2):436-448. doi: 10.2337/db20-0454. Epub 2020 Nov 9. 2021
|
| 3 | RAB7A, VPS41, WDR91
|
| The Rab7 effector WDR91 promotes autophagy-lysosome degradation in neurons by regulating lysosome fusion
|
| Xing R, Zhou H, Jian Y, Li L, Wang M, Liu N, Yin Q, Liang Z, Guo W, Yang C.
|
| J Cell Biol. Aug 2;220(8):e202007061. doi: 10.1083/jcb.202007061. Epub 2021 May 24. 2021
|
| 4 | VPS41
|
| Self-assembly of VPS41 promotes sorting required for biogenesis of the regulated secretory pathway.
|
| Asensio CS, Sirkis DW, Maas JW Jr, Egami K, To TL, Brodsky FM, Shu X, Cheng Y, Edwards RH.
|
| Dev Cell. Nov 25;27(4):425-37. doi: 10.1016/j.devcel.2013.10.007. Epub 2013 Nov 7 2013
|
| 5 | VPS39, VPS41
|
| The HOPS proteins hVps41 and hVps39 are required for homotypic and heterotypic late endosome fusion
|
| Pols MS, ten Brink C, Gosavi P, Oorschot V, Klumperman J.
|
| Traffic Feb;14(2):219-32. doi: 10.1111/tra.12027. Epub 2012 Dec 12. 2013
|
| 6 | VAMP7, VPS41
|
| hVps41 and VAMP7 function in direct TGN to late endosome transport of lysosomal membrane proteins.
|
| Pols MS, van Meel E, Oorschot V, ten Brink C, Fukuda M, Swetha MG, Mayor S, Klumperman J.
|
| Nat Commun. 4:1361. doi: 10.1038/ncomms2360. 2013
|
| 7 | VPS41
|
| hVPS41 is expressed in multiple isoforms and can associate with vesicles through a RING-H2 finger motif.
|
| McVey Ward D, Radisky D, Scullion MA, Tuttle MS, Vaughn M, Kaplan J.
|
| Exp Cell Res 267(1):126-34. 2001
|
| 8 | VPS41
|
| Characterization of VPS41, a gene required for vacuolar trafficking and high-affinity iron transport in yeast.
|
| Radisky DC, Snyder WB, Emr SD, Kaplan J.
|
| Proc Natl Acad Sci U S A 94(11):5662-6. 1997
|