Heutink P - Search Results

1

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor.

Zhong N, Kim CY, Rizzu P, Geula C, Porter DR, Pothos EN, Squitieri F, Heutink P, Xu J. Zhong N, et al. Among authors: heutink p. J Biol Chem. 2006 Jul 28;281(30):20940-20948. doi: 10.1074/jbc.M601935200. Epub 2006 May 26. J Biol Chem. 2006. PMID: 16731528 Free article.

2

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Bonifati V, et al. Among authors: heutink p. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21. Science. 2003. PMID: 12446870

3

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.

Macedo MG, Anar B, Bronner IF, Cannella M, Squitieri F, Bonifati V, Hoogeveen A, Heutink P, Rizzu P. Macedo MG, et al. Among authors: heutink p. Hum Mol Genet. 2003 Nov 1;12(21):2807-16. doi: 10.1093/hmg/ddg304. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952867

4

An English kindred with a novel recessive tauopathy and respiratory failure.

Nicholl DJ, Greenstone MA, Clarke CE, Rizzu P, Crooks D, Crowe A, Trojanowski JQ, Lee VM, Heutink P. Nicholl DJ, et al. Among authors: heutink p. Ann Neurol. 2003 Nov;54(5):682-6. doi: 10.1002/ana.10747. Ann Neurol. 2003. PMID: 14595660

5

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.

Rizzu P, Hinkle DA, Zhukareva V, Bonifati V, Severijnen LA, Martinez D, Ravid R, Kamphorst W, Eberwine JH, Lee VM, Trojanowski JQ, Heutink P. Rizzu P, et al. Among authors: heutink p. Ann Neurol. 2004 Jan;55(1):113-8. doi: 10.1002/ana.10782. Ann Neurol. 2004. PMID: 14705119

6

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network, MD. Bertoli-Avella AM, et al. Among authors: heutink p. Mov Disord. 2005 Apr;20(4):424-431. doi: 10.1002/mds.20343. Mov Disord. 2005. PMID: 15584030

7

Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease.

Meulener M, Whitworth AJ, Armstrong-Gold CE, Rizzu P, Heutink P, Wes PD, Pallanck LJ, Bonini NM. Meulener M, et al. Among authors: heutink p. Curr Biol. 2005 Sep 6;15(17):1572-7. doi: 10.1016/j.cub.2005.07.064. Curr Biol. 2005. PMID: 16139213 Free article.

8

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.

van Swieten JC, Bronner IF, Azmani A, Severijnen LA, Kamphorst W, Ravid R, Rizzu P, Willemsen R, Heutink P. van Swieten JC, et al. Among authors: heutink p. J Neuropathol Exp Neurol. 2007 Jan;66(1):17-25. doi: 10.1097/nen.0b013e31802c39a4. J Neuropathol Exp Neurol. 2007. PMID: 17204933

9

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Macedo MG, Verbaan D, Fang Y, van Rooden SM, Visser M, Anar B, Uras A, Groen JL, Rizzu P, van Hilten JJ, Heutink P. Macedo MG, et al. Among authors: heutink p. Mov Disord. 2009 Jan 30;24(2):196-203. doi: 10.1002/mds.22287. Mov Disord. 2009. PMID: 18973254

10

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.

Bettencourt C, Santos C, Coutinho P, Rizzu P, Vasconcelos J, Kay T, Cymbron T, Raposo M, Heutink P, Lima M. Bettencourt C, et al. Among authors: heutink p. BMC Neurol. 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. BMC Neurol. 2011. PMID: 22023810 Free PMC article.

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