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THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. Erogullari A, et al. Among authors: hollstein r. Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25088175
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.
Kessler T, Wobst J, Wolf B, Eckhold J, Vilne B, Hollstein R, von Ameln S, Dang TA, Sager HB, Moritz Rumpf P, Aherrahrou R, Kastrati A, Björkegren JLM, Erdmann J, Lusis AJ, Civelek M, Kaiser FJ, Schunkert H. Kessler T, et al. Among authors: hollstein r. Circulation. 2017 Aug 1;136(5):476-489. doi: 10.1161/CIRCULATIONAHA.116.024152. Epub 2017 May 9. Circulation. 2017. PMID: 28487391 Free PMC article.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. Hollstein R, et al. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424145 Free PMC article.
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.
Balck A, Tunc S, Schmitz J, Hollstein R, Kaiser FJ, Brüggemann N. Balck A, et al. Among authors: hollstein r. Cerebellum. 2018 Aug;17(4):504-506. doi: 10.1007/s12311-018-0931-8. Cerebellum. 2018. PMID: 29497979 No abstract available.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Among authors: hollstein r. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. Nagy V, et al. Among authors: hollstein r. Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31321300 Free PMC article.
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