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

dc.contributor.authorGusmao, Claudio M.
dc.contributor.authorStone, Scellig
dc.contributor.authorWaugh, Jeff L.
dc.contributor.authorYang, Edward
dc.contributor.authorLenk, Guy M.
dc.contributor.authorRodan, Lance H.
dc.date.accessioned2019-08-09T17:12:52Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2019-08-09T17:12:52Z
dc.date.issued2019-07
dc.identifier.citationGusmao, Claudio M.; Stone, Scellig; Waugh, Jeff L.; Yang, Edward; Lenk, Guy M.; Rodan, Lance H. (2019). "VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation." Movement Disorders Clinical Practice 6(6): 494-497.
dc.identifier.issn2330-1619
dc.identifier.issn2330-1619
dc.identifier.urihttps://hdl.handle.net/2027.42/150504
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.otherdystonia
dc.subject.otherneurodegeneration with brain iron accumulation
dc.subject.otherinborn genetic disease
dc.subject.otherdeep brain stimulation
dc.subject.otherparkinsonism
dc.titleVAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelNeurology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/1/mdc312797-sup-0001-TableS1.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/2/mdc312797.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/3/mdc312797_am.pdf
dc.identifier.doi10.1002/mdc3.12797
dc.identifier.sourceMovement Disorders Clinical Practice
dc.identifier.citedreferenceLenk GM, Szymanska K, Debska‐Vielhaber G, et al. Biallelic mutations of VAC14 in pediatric‐onset neurological disease. Am J Hum Genet 2016; 99: 188 – 194.
dc.identifier.citedreferenceVidailhet M, Jutras MF, Grabli D, Roze E. Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry 2013; 84: 1029 – 1042.
dc.identifier.citedreferenceJin N, Chow CY, Liu L, et al. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2in yeast and mouse. EMBO J 2008; 27: 3221 – 3234.
dc.identifier.citedreferenceZhang Y, Zolov SN, Chow CY, et al. 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: 17518 – 17523.
dc.identifier.citedreferenceBonangelino CJ, Catlett NL, Weisman LS. Vac7p, a novel vacuolar protein, is required for normal vacuole inheritance and morphology. Mol Cell Biol 1997; 17: 6847 – 6858.
dc.identifier.citedreferenceAlghamdi TA, Ho CY, Mrakovic A, et al. Vac14 protein multimerization is a prerequisite step for Fab1 protein complex assembly and function. J Biol Chem 2013; 13: 9363 – 9372.
dc.identifier.citedreferenceTaghavi S, Chaouni R, Tafakhori A, et al. A clinical and molecular genetic study of 50 families with autosomal recessive parkinsonism revealed known and novel gene mutations. Mol Neurobiol 2018; 55: 3477 – 3489.
dc.identifier.citedreferenceStutterd C, Diakumis P, Bahlo M, et al. Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14. Ann Clin Transl Neurol 2017; 4: 859 – 864.
dc.identifier.citedreferenceCastelnau P, Cif L, Valente EM, et al. Pallidal stimulation improves pantothenate kinase‐associated neurodegeneration. Ann Neurol 2005; 57: 738 – 741.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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