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Items: 1 to 20 of 38

1.

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

Bally JF, Breen DP, Schaake S, Trinh J, Rakovic A, Klein C, Lang AE.

Parkinsonism Relat Disord. 2020 Jan 30;71:44-45. doi: 10.1016/j.parkreldis.2020.01.017. [Epub ahead of print]

2.

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. 2019 Dec;40(12):2444. doi: 10.1002/humu.23913. Epub 2019 Nov 4. No abstract available.

PMID:
31758849
3.

Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.

Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D.

Brain. 2020 Jan 1;143(1):e1. doi: 10.1093/brain/awz351. No abstract available.

PMID:
31754706
4.

Mutations in RHOT1 Disrupt Endoplasmic Reticulum-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, Raković A, Lichtner P, Antony P, Glaab E, May P, Dimmer KS, Fitzgerald JC, Grünewald A, Krüger R.

Antioxid Redox Signal. 2019 Dec 1;31(16):1213-1234. doi: 10.1089/ars.2018.7718. Epub 2019 Aug 21.

5.

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
6.

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.

7.

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.

8.

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
9.

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.

10.

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. Erratum in: Brain. 2019 Mar 1;142(3):e10.

PMID:
30169597
11.

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
12.

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. Erratum in: Hum Mutat. 2019 Dec;40(12):2444.

PMID:
30079973
13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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

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