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VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation

Overview
Publisher Wiley
Specialty Neurology
Date 2019 Aug 9
PMID 31392254
Citations 5
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References
1.
Castelnau P, Cif L, Valente E, Vayssiere N, Hemm S, Gannau A . Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol. 2005; 57(5):738-41. DOI: 10.1002/ana.20457. View

2.
Zhang Y, Zolov S, Chow C, Slutsky S, Richardson S, Piper R . Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci U S A. 2007; 104(44):17518-23. PMC: 2077288. DOI: 10.1073/pnas.0702275104. View

3.
Jin N, Chow C, Liu L, Zolov S, Bronson R, Davisson M . VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. EMBO J. 2008; 27(24):3221-34. PMC: 2600653. DOI: 10.1038/emboj.2008.248. View

4.
Vidailhet M, Jutras M, Grabli D, Roze E . Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry. 2012; 84(9):1029-42. DOI: 10.1136/jnnp-2011-301714. View

5.
Alghamdi T, Ho C, Mrakovic A, Taylor D, Mao D, Botelho R . Vac14 protein multimerization is a prerequisite step for Fab1 protein complex assembly and function. J Biol Chem. 2013; 288(13):9363-72. PMC: 3611006. DOI: 10.1074/jbc.M113.453712. View