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Items: 37

1.

Mutations in RHOT1 disrupt ER-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease.

Grossmann D, Berenguer-Escuder C, Bellet ME, Scheibner D, Bohler J, Massart F, Rapaport D, Skupin A, Fouquier d'Hérouël A, Sharma M, Ghelfi J, Rakovic A, Lichtner P, Antony P, Glaab E, May P, Dimmer KS, Fitzgerald JC, Gruenewald A, Krüger R.

Antioxid Redox Signal. 2019 Jul 15. doi: 10.1089/ars.2018.7718. [Epub ahead of print]

PMID:
31303019
2.

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C.

Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.

PMID:
30973967
3.

Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells.

Guida M, Zanon A, Montibeller L, Lavdas AA, Ladurner J, Pischedda F, Rakovic A, Domingues FS, Piccoli G, Klein C, Pramstaller PP, Hicks AA, Pichler I.

Int J Mol Sci. 2019 Feb 11;20(3). pii: E748. doi: 10.3390/ijms20030748.

4.

Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Philip S.

Hum Mol Genet. 2019 Apr 1;28(7):1225. doi: 10.1093/hmg/ddy408. No abstract available.

5.

PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion.

Rakovic A, Ziegler J, Mårtensson CU, Prasuhn J, Shurkewitsch K, König P, Paulson HL, Klein C.

Cell Death Differ. 2019 Aug;26(8):1428-1441. doi: 10.1038/s41418-018-0219-z. Epub 2018 Oct 30.

PMID:
30375512
6.

USP14 inhibition corrects an in vivo model of impaired mitophagy.

Chakraborty J, von Stockum S, Marchesan E, Caicci F, Ferrari V, Rakovic A, Klein C, Antonini A, Bubacco L, Ziviani E.

EMBO Mol Med. 2018 Nov;10(11). pii: e9014. doi: 10.15252/emmm.201809014.

7.

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.

Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C.

Brain. 2018 Oct 1;141(10):3052-3064. doi: 10.1093/brain/awy230.

PMID:
30169597
8.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C.

Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441.

PMID:
30153385
9.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2018 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7.

PMID:
30079973
10.

Mfn2 ubiquitination by PINK1/parkin gates the p97-dependent release of ER from mitochondria to drive mitophagy.

McLelland GL, Goiran T, Yi W, Dorval G, Chen CX, Lauinger ND, Krahn AI, Valimehr S, Rakovic A, Rouiller I, Durcan TM, Trempe JF, Fon EA.

Elife. 2018 Apr 20;7. pii: e32866. doi: 10.7554/eLife.32866.

11.

Genome-Edited, TH-expressing Neuroblastoma Cells as a Disease Model for Dopamine-Related Disorders: A Proof-of-Concept Study on DJ-1-deficient Parkinsonism.

Prasuhn J, Mårtensson CU, Krajka V, Klein C, Rakovic A.

Front Cell Neurosci. 2018 Jan 8;11:426. doi: 10.3389/fncel.2017.00426. eCollection 2017.

12.

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K.

Genes (Basel). 2017 Oct 18;8(10). pii: E276. doi: 10.3390/genes8100276. Review.

13.

Screening study of TUBB4A in isolated dystonia.

Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C.

Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.

14.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C.

JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666.

15.

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P.

Hum Mol Genet. 2017 Jul 1;26(13):2412-2425. doi: 10.1093/hmg/ddx132. Erratum in: Hum Mol Genet. 2019 Apr 1;28(7):1225.

16.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency.

Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P.

J Cell Biol. 2017 Mar 6;216(3):695-708. doi: 10.1083/jcb.201511044. Epub 2017 Jan 30.

17.

iPS models of Parkin and PINK1.

Rakovic A, Seibler P, Klein C.

Biochem Soc Trans. 2015 Apr;43(2):302-7. doi: 10.1042/BST20150010. Review.

PMID:
25849934
18.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.

Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.

19.

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.

Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1.

PMID:
25088175
20.

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.

Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P.

Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17.

PMID:
24931141
21.

Dichloroacetate prevents restenosis in preclinical animal models of vessel injury.

Deuse T, Hua X, Wang D, Maegdefessel L, Heeren J, Scheja L, Bolaños JP, Rakovic A, Spin JM, Stubbendorff M, Ikeno F, Länger F, Zeller T, Schulte-Uentrop L, Stoehr A, Itagaki R, Haddad F, Eschenhagen T, Blankenberg S, Kiefmann R, Reichenspurner H, Velden J, Klein C, Yeung A, Robbins RC, Tsao PS, Schrepfer S.

Nature. 2014 May 29;509(7502):641-4. doi: 10.1038/nature13232. Epub 2014 Apr 20.

22.

Profiling of Parkin-binding partners using tandem affinity purification.

Zanon A, Rakovic A, Blankenburg H, Doncheva NT, Schwienbacher C, Serafin A, Alexa A, Weichenberger CX, Albrecht M, Klein C, Hicks AA, Pramstaller PP, Domingues FS, Pichler I.

PLoS One. 2013 Nov 11;8(11):e78648. doi: 10.1371/journal.pone.0078648. eCollection 2013.

23.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C.

Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17.

PMID:
23595291
24.

Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons.

Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C.

J Biol Chem. 2013 Jan 25;288(4):2223-37. doi: 10.1074/jbc.M112.391680. Epub 2012 Dec 4.

25.

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Grünewald A, Arns B, Seibler P, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C.

Neurobiol Aging. 2012 Aug;33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.

PMID:
22296644
26.

Specific alterations of physiological parameters in competitive race walkers.

Radovanovic D, Ponorac N, Ignjatovic A, Stojiljkovic N, Popovic T, Rakovic A.

Acta Physiol Hung. 2011 Dec;98(4):449-55. doi: 10.1556/APhysiol.98.2011.4.8.

PMID:
22173026
27.

Truncating mutations in THAP1 define the nuclear localization signal.

Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ.

Mov Disord. 2011 Jul;26(8):1565-7. doi: 10.1002/mds.23611. Epub 2011 Apr 14. No abstract available.

PMID:
21495072
28.

PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

Rakovic A, Grünewald A, Voges L, Hofmann S, Orolicki S, Lohmann K, Klein C.

Parkinsons Dis. 2011 Mar 16;2011:153979. doi: 10.4061/2011/153979.

29.

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.

Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C.

PLoS One. 2011 Mar 8;6(3):e16746. doi: 10.1371/journal.pone.0016746.

30.

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K.

Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157.

PMID:
20976771
31.

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.

Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH, Pramstaller PP, Sue CM, Klein C.

PLoS One. 2010 Sep 27;5(9):e12962. doi: 10.1371/journal.pone.0012962.

32.

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.

Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K.

Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857.

PMID:
20589871
33.

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C.

Hum Mol Genet. 2010 Aug 15;19(16):3124-37. doi: 10.1093/hmg/ddq215. Epub 2010 May 27.

PMID:
20508036
34.

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C.

Neurology. 2009 Apr 21;72(16):1441-3. doi: 10.1212/WNL.0b013e3181a1861e. No abstract available.

PMID:
19380705
35.

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C.

Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.

PMID:
19345148
36.

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A.

Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399.

37.

Allele-specific detection of C-1562T polymorphism in the matrix metalloproteinase-9 gene: genotyping by MADGE.

Zivković M, Raković A, Stanković A.

Clin Biochem. 2006 Jun;39(6):630-2. Epub 2006 Feb 3.

PMID:
16458283

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