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Items: 2

Select item 53082041.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen

Nat Genet. Author manuscript; available in PMC 2017 Feb 14.

Published in final edited form as: Nat Genet. 2010 Apr; 42(4): 303–312. Published online 2010 Feb 28. doi: 10.1038/ng.538

PMCID:: PMC5308204

Abstract Article PDF–886K

Select item 26427392.

SPE-39 Family Proteins Interact with the HOPS Complex and Function in Lysosomal Delivery

Guang-dan Zhu, Gloria Salazar, Stephanie A. Zlatic, Babar Fiza, Michele M. Doucette, Craig J. Heilman, Allan I. Levey, Victor Faundez, Steven W. L'Hernault

Mol Biol Cell. 2009 Feb 15; 20(4): 1223–1240. doi: 10.1091/mbc.E08-07-0728