PMC Links for OMIM (Select 604632) - PMC

Select item 50054391.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Guy M. Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A. Hsu, Wolfram S. Kunz, Miriam H. Meisler, Rafal Ploski

Am J Hum Genet. 2016 Jul 7; 99(1): 188–194. Published online 2016 Jun 9. doi: 10.1016/j.ajhg.2016.05.008

PMCID:: PMC5005439

Abstract Article PDF–1.0M

Select item 27783782.

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P₂

Cole J. Ferguson, Guy M. Lenk, Miriam H. Meisler

Hum Mol Genet. 2009 Dec 15; 18(24): 4868–4878. Published online 2009 Sep 29. doi: 10.1093/hmg/ddp460

PMCID:: PMC2778378

Abstract Article PDF–569K

Select item 27567583.

ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality

Diego Sbrissa, Ognian C. Ikonomov, Homer Fenner, Assia Shisheva

J Mol Biol. Author manuscript; available in PMC 2009 Dec 26.

Published in final edited form as: J Mol Biol. 2008 Dec 26; 384(4): 766–779. Published online 2008 Oct 11. doi: 10.1016/j.jmb.2008.10.009

PMCID:: PMC2756758

Abstract Article PDF–1.8M

Select item 26006534.

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P₂ in yeast and mouse

Natsuko Jin, Clement Y Chow, Li Liu, Sergey N Zolov, Roderick Bronson, Muriel Davisson, Jason L Petersen, Yanling Zhang, Sujin Park, Jason E Duex, Daniel Goldowitz, Miriam H Meisler, Lois S Weisman

EMBO J. 2008 Dec 17; 27(24): 3221–3234. Published online 2008 Nov 27. doi: 10.1038/emboj.2008.248

PMCID:: PMC2600653

Abstract Article PDF–1.4M

Select item 20772885.

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice

Yanling Zhang, Sergey N. Zolov, Clement Y. Chow, Shalom G. Slutsky, Simon C. Richardson, Robert C. Piper, Baoli Yang, Johnathan J. Nau, Randal J. Westrick, Sean J. Morrison, Miriam H. Meisler, Lois S. Weisman

Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17518–17523. Published online 2007 Oct 23. doi: 10.1073/pnas.0702275104

PMCID:: PMC2077288

Abstract Article PDF–1.7M

Select item 5290466.

A Mammalian Ortholog of Saccharomyces cerevisiae Vac14 That Associates with and Up-Regulates PIKfyve Phosphoinositide 5-Kinase Activity

Diego Sbrissa, Ognian C. Ikonomov, Jana Strakova, Rajeswari Dondapati, Krzysztof Mlak, Robert Deeb, Robert Silver, Assia Shisheva

Mol Cell Biol. 2004 Dec; 24(23): 10437–10447. doi: 10.1128/MCB.24.23.10437-10447.2004

PMCID:: PMC529046

Abstract Article PDF–868K

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