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Items: 1 to 20 of 56

1.

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Ricciardi L, Petrucci S, Guidubaldi A, Ialongo T, Serra L, Ferraris A, Spanò B, Bozzali M, Valente EM, Bentivoglio AR.

Mov Disord. 2014 Oct;29(12):1561-6. doi: 10.1002/mds.25994. Epub 2014 Aug 27.

PMID:
25164310
2.

Ubiquitin is phosphorylated by PINK1 to activate parkin.

Koyano F, Okatsu K, Kosako H, Tamura Y, Go E, Kimura M, Kimura Y, Tsuchiya H, Yoshihara H, Hirokawa T, Endo T, Fon EA, Trempe JF, Saeki Y, Tanaka K, Matsuda N.

Nature. 2014 Jun 5;510(7503):162-6. doi: 10.1038/nature13392. Epub 2014 Jun 4.

PMID:
24784582
3.

Next-generation phenotyping using the parkin example: time to catch up with genetics.

Grünewald A, Kasten M, Ziegler A, Klein C.

JAMA Neurol. 2013 Sep 1;70(9):1186-91. doi: 10.1001/jamaneurol.2013.488. Review.

PMID:
23835509
4.

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.

5.

The neuropathology of genetic Parkinson's disease.

Poulopoulos M, Levy OA, Alcalay RN.

Mov Disord. 2012 Jun;27(7):831-42. doi: 10.1002/mds.24962. Epub 2012 Mar 26. Review.

6.

Bioenergetic consequences of PINK1 mutations in Parkinson disease.

Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH.

PLoS One. 2011;6(10):e25622. doi: 10.1371/journal.pone.0025622. Epub 2011 Oct 17.

7.

Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism.

Zhang X, Zhang H, Liao B, Guo J, Xia K, Tang B.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):490-7. doi: 10.3969/j.issn.1672-7347.2011.06.004.

8.

Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells.

Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D.

J Neurosci. 2011 Apr 20;31(16):5970-6. doi: 10.1523/JNEUROSCI.4441-10.2011.

9.

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.

10.

Nonmotor symptoms in genetic Parkinson disease.

Kasten M, Kertelge L, Brüggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C.

Arch Neurol. 2010 Jun;67(6):670-6. doi: 10.1001/archneurol.67.6.670. Review.

PMID:
20558386
11.

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.

Keyser RJ, Lesage S, Brice A, Carr J, Bardien S.

Biochem Biophys Res Commun. 2010 Jul 16;398(1):125-9. doi: 10.1016/j.bbrc.2010.06.049. Epub 2010 Jun 15.

PMID:
20558144
12.

Parkinson-related genetics in patients treated with deep brain stimulation.

Johansen KK, Jørgensen JV, White LR, Farrer MJ, Aasly JO.

Acta Neurol Scand. 2011 Mar;123(3):201-6. doi: 10.1111/j.1600-0404.2010.01387.x.

PMID:
20545633
13.

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
14.

Structural imaging in the presymptomatic stage of genetically determined parkinsonism.

Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F.

Neurobiol Dis. 2010 Sep;39(3):402-8. doi: 10.1016/j.nbd.2010.05.006. Epub 2010 May 17.

PMID:
20483373
15.

Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis.

Kasten M, Weichert C, Lohmann K, Klein C.

Mov Disord. 2010 May 15;25(7):952-4. doi: 10.1002/mds.23031. No abstract available.

PMID:
20461815
16.

PINK1-linked parkinsonism is associated with Lewy body pathology.

Samaranch L, Lorenzo-Betancor O, Arbelo JM, Ferrer I, Lorenzo E, Irigoyen J, Pastor MA, Marrero C, Isla C, Herrera-Henriquez J, Pastor P.

Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30.

PMID:
20356854
17.

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin.

Narendra DP, Jin SM, Tanaka A, Suen DF, Gautier CA, Shen J, Cookson MR, Youle RJ.

PLoS Biol. 2010 Jan 26;8(1):e1000298. doi: 10.1371/journal.pbio.1000298.

18.

PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

Vives-Bauza C, Zhou C, Huang Y, Cui M, de Vries RL, Kim J, May J, Tocilescu MA, Liu W, Ko HS, Magrané J, Moore DJ, Dawson VL, Grailhe R, Dawson TM, Li C, Tieu K, Przedborski S.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):378-83. doi: 10.1073/pnas.0911187107. Epub 2009 Dec 4.

19.

Evaluation of PINK1 variants in Indian Parkinson's disease patients.

Biswas A, Sadhukhan T, Majumder S, Misra AK, Das SK, Variation Consortium IG, Ray K, Ray J.

Parkinsonism Relat Disord. 2010 Mar;16(3):167-71. doi: 10.1016/j.parkreldis.2009.10.005. Epub 2009 Nov 3.

PMID:
19889566
20.

Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect.

Tan EK, Refai FS, Siddique M, Yap K, Ho P, Fook-Chong S, Zhao Y.

Hum Mutat. 2009 Nov;30(11):1551-7. doi: 10.1002/humu.21108.

PMID:
19847793

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