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Items: 1 to 50 of 73

1.

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y.

Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24.

PMID:
31235931
2.

Regulating the human HECT E3 ligases.

Sluimer J, Distel B.

Cell Mol Life Sci. 2018 Sep;75(17):3121-3141. doi: 10.1007/s00018-018-2848-2. Epub 2018 Jun 1. Review.

3.

A versatile plasmid system for reconstitution and analysis of mammalian ubiquitination cascades in yeast.

Avagliano Trezza R, van den Burg J, van den Oever N, Distel B.

Microb Cell. 2017 Dec 5;5(3):150-157. doi: 10.15698/mic2018.03.620.

4.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA.

Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4.

5.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

6.

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen JE, Sorrentino V, Avagliano Trezza R, de Wissel MB, van den Berg M, Bleijlevens B, van Ruissen F, Distel B, Baas F, Zelcer N, Weterman MAJ.

Hum Mol Genet. 2017 Jun 1;26(11):2034-2041. doi: 10.1093/hmg/ddx089.

PMID:
28335037
7.

Binding of a proline-independent hydrophobic motif by the Candida albicans Rvs167-3 SH3 domain.

Gkourtsa A, van den Burg J, Avula T, Hochstenbach F, Distel B.

Microbiol Res. 2016 Sep;190:27-36. doi: 10.1016/j.micres.2016.04.018. Epub 2016 May 10.

8.

The Deubiquitylase USP2 Regulates the LDLR Pathway by Counteracting the E3-Ubiquitin Ligase IDOL.

Nelson JK, Sorrentino V, Avagliano Trezza R, Heride C, Urbe S, Distel B, Zelcer N.

Circ Res. 2016 Feb 5;118(3):410-9. doi: 10.1161/CIRCRESAHA.115.307298. Epub 2015 Dec 14.

PMID:
26666640
9.

Evolution of the SH3 Domain Specificity Landscape in Yeasts.

Verschueren E, Spiess M, Gkourtsa A, Avula T, Landgraf C, Mancilla VT, Huber A, Volkmer R, Winsor B, Serrano L, Hochstenbach F, Distel B.

PLoS One. 2015 Jun 11;10(6):e0129229. doi: 10.1371/journal.pone.0129229. eCollection 2015.

10.

Contribution of Fdh3 and Glr1 to Glutathione Redox State, Stress Adaptation and Virulence in Candida albicans.

Tillmann AT, Strijbis K, Cameron G, Radmaneshfar E, Thiel M, Munro CA, MacCallum DM, Distel B, Gow NA, Brown AJ.

PLoS One. 2015 Jun 3;10(6):e0126940. doi: 10.1371/journal.pone.0126940. eCollection 2015.

11.

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.

J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.

12.

Identification and characterization of Rvs162/Rvs167-3, a novel N-BAR heterodimer in the human fungal pathogen Candida albicans.

Gkourtsa A, van den Burg J, Strijbis K, Avula T, Bijvoets S, Timm D, Hochstenbach F, Distel B.

Eukaryot Cell. 2015 Feb;14(2):182-93. doi: 10.1128/EC.00282-14. Epub 2014 Dec 29.

13.

A disulphide bond in the E2 enzyme Pex4p modulates ubiquitin-conjugating activity.

Williams C, van den Berg M, Stanley WA, Wilmanns M, Distel B.

Sci Rep. 2013;3:2212. doi: 10.1038/srep02212.

14.

Alternative splicing directs dual localization of Candida albicans 6-phosphogluconate dehydrogenase to cytosol and peroxisomes.

Strijbis K, van den Burg J, Visser WF, van den Berg M, Distel B.

FEMS Yeast Res. 2012 Feb;12(1):61-8. doi: 10.1111/j.1567-1364.2011.00761.x. Epub 2011 Dec 2.

15.

Insights into ubiquitin-conjugating enzyme/ co-activator interactions from the structure of the Pex4p:Pex22p complex.

Williams C, van den Berg M, Panjikar S, Stanley WA, Distel B, Wilmanns M.

EMBO J. 2012 Jan 18;31(2):391-402. doi: 10.1038/emboj.2011.411. Epub 2011 Nov 15.

16.

The Peroxisomal Targeting Signal 1 in sterol carrier protein 2 is autonomous and essential for receptor recognition.

Williams CP, Schueller N, Thompson CA, van den Berg M, Van Haren SD, Erdmann R, Bond CS, Distel B, Schliebs W, Wilmanns M, Stanley WA.

BMC Biochem. 2011 Mar 4;12:12. doi: 10.1186/1471-2091-12-12.

17.

Intracellular acetyl unit transport in fungal carbon metabolism.

Strijbis K, Distel B.

Eukaryot Cell. 2010 Dec;9(12):1809-15. doi: 10.1128/EC.00172-10. Epub 2010 Oct 1. Review.

18.

Contributions of carnitine acetyltransferases to intracellular acetyl unit transport in Candida albicans.

Strijbis K, van Roermund CW, van den Burg J, van den Berg M, Hardy GP, Wanders RJ, Distel B.

J Biol Chem. 2010 Aug 6;285(32):24335-46. doi: 10.1074/jbc.M109.094250. Epub 2010 Jun 3.

19.

Enzymology of the carnitine biosynthesis pathway.

Strijbis K, Vaz FM, Distel B.

IUBMB Life. 2010 May;62(5):357-62. doi: 10.1002/iub.323. Review.

20.

Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.

Strijbis K, van Roermund CW, Hardy GP, van den Burg J, Bloem K, de Haan J, van Vlies N, Wanders RJ, Vaz FM, Distel B.

FASEB J. 2009 Aug;23(8):2349-59. doi: 10.1096/fj.08-127985. Epub 2009 Mar 16.

PMID:
19289605
21.

The activity of the glyoxylate cycle in peroxisomes of Candida albicans depends on a functional beta-oxidation pathway: evidence for reduced metabolite transport across the peroxisomal membrane.

Piekarska K, Hardy G, Mol E, van den Burg J, Strijbis K, van Roermund C, van den Berg M, Distel B.

Microbiology. 2008 Oct;154(Pt 10):3061-72. doi: 10.1099/mic.0.2008/020289-0.

PMID:
18832312
22.

Pex10p functions as an E3 ligase for the Ubc4p-dependent ubiquitination of Pex5p.

Williams C, van den Berg M, Geers E, Distel B.

Biochem Biophys Res Commun. 2008 Oct 3;374(4):620-4. doi: 10.1016/j.bbrc.2008.07.054. Epub 2008 Jul 21.

PMID:
18644345
23.

Carnitine-dependent transport of acetyl coenzyme A in Candida albicans is essential for growth on nonfermentable carbon sources and contributes to biofilm formation.

Strijbis K, van Roermund CW, Visser WF, Mol EC, van den Burg J, MacCallum DM, Odds FC, Paramonova E, Krom BP, Distel B.

Eukaryot Cell. 2008 Apr;7(4):610-8. doi: 10.1128/EC.00017-08. Epub 2008 Feb 15.

24.

A conserved cysteine is essential for Pex4p-dependent ubiquitination of the peroxisomal import receptor Pex5p.

Williams C, van den Berg M, Sprenger RR, Distel B.

J Biol Chem. 2007 Aug 3;282(31):22534-43. Epub 2007 Jun 5.

25.

Role of the synthase domain of Ags1p in cell wall alpha-glucan biosynthesis in fission yeast.

Vos A, Dekker N, Distel B, Leunissen JA, Hochstenbach F.

J Biol Chem. 2007 Jun 29;282(26):18969-79. Epub 2007 Apr 30.

26.

Role of the alpha-glucanase Agn2p in ascus-wall endolysis following sporulation in fission yeast.

Dekker N, van Rijssel J, Distel B, Hochstenbach F.

Yeast. 2007 Apr;24(4):279-88.

27.

Pex13p: docking or cargo handling protein?

Williams C, Distel B.

Biochim Biophys Acta. 2006 Dec;1763(12):1585-91. Epub 2006 Sep 14. Review.

28.

Peroxisomal fatty acid beta-oxidation is not essential for virulence of Candida albicans.

Piekarska K, Mol E, van den Berg M, Hardy G, van den Burg J, van Roermund C, MacCallum D, Odds F, Distel B.

Eukaryot Cell. 2006 Nov;5(11):1847-56. Epub 2006 Sep 8.

29.

Purification of yeast peroxisomes.

Distel B, Kragt A.

Methods Mol Biol. 2006;313:21-6.

PMID:
16118420
30.

Endoplasmic reticulum-directed Pex3p routes to peroxisomes and restores peroxisome formation in a Saccharomyces cerevisiae pex3Delta strain.

Kragt A, Voorn-Brouwer T, van den Berg M, Distel B.

J Biol Chem. 2005 Oct 7;280(40):34350-7. Epub 2005 Aug 12.

31.
32.

The Saccharomyces cerevisiae peroxisomal import receptor Pex5p is monoubiquitinated in wild type cells.

Kragt A, Voorn-Brouwer T, van den Berg M, Distel B.

J Biol Chem. 2005 Mar 4;280(9):7867-74. Epub 2005 Jan 4.

33.

Involvement of the endoplasmic reticulum in peroxisome formation.

Geuze HJ, Murk JL, Stroobants AK, Griffith JM, Kleijmeer MJ, Koster AJ, Verkleij AJ, Distel B, Tabak HF.

Mol Biol Cell. 2003 Jul;14(7):2900-7. Epub 2003 Apr 4.

34.

Topography for independent binding of alpha-helical and PPII-helical ligands to a peroxisomal SH3 domain.

Douangamath A, Filipp FV, Klein AT, Barnett P, Zou P, Voorn-Brouwer T, Vega MC, Mayans OM, Sattler M, Distel B, Wilmanns M.

Mol Cell. 2002 Nov;10(5):1007-17.

35.

Saccharomyces cerevisiae acyl-CoA oxidase follows a novel, non-PTS1, import pathway into peroxisomes that is dependent on Pex5p.

Klein AT, van den Berg M, Bottger G, Tabak HF, Distel B.

J Biol Chem. 2002 Jul 12;277(28):25011-9. Epub 2002 Apr 19.

36.
37.

In silicio search for genes encoding peroxisomal proteins in Saccharomyces cerevisiae.

Kal AJ, Hettema EH, van den Berg M, Koerkamp MG, van Ijlst L, Distel B, Tabak HF.

Cell Biochem Biophys. 2000;32 Spring:1-8.

PMID:
11330035
38.

Recognition of peroxisomal targeting signal type 1 by the import receptor Pex5p.

Klein AT, Barnett P, Bottger G, Konings D, Tabak HF, Distel B.

J Biol Chem. 2001 May 4;276(18):15034-41. Epub 2001 Jan 11.

39.

The peroxisomal membrane protein Pex13p shows a novel mode of SH3 interaction.

Barnett P, Bottger G, Klein AT, Tabak HF, Distel B.

EMBO J. 2000 Dec 1;19(23):6382-91.

40.
41.

Transactions at the peroxisomal membrane.

Distel B, Braakman I, Elgersma Y, Tabak HF.

Subcell Biochem. 2000;34:303-22. Review. No abstract available.

PMID:
10808337
42.

Pex8p, an intraperoxisomal peroxin of Saccharomyces cerevisiae required for protein transport into peroxisomes binds the PTS1 receptor pex5p.

Rehling P, Skaletz-Rorowski A, Girzalsky W, Voorn-Brouwer T, Franse MM, Distel B, Veenhuis M, Kunau WH, Erdmann R.

J Biol Chem. 2000 Feb 4;275(5):3593-602.

43.

Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins.

Hettema EH, Girzalsky W, van Den Berg M, Erdmann R, Distel B.

EMBO J. 2000 Jan 17;19(2):223-33.

44.

Peroxisomes: simple in function but complex in maintenance.

Tabak HF, Braakman I, Distel B.

Trends Cell Biol. 1999 Nov;9(11):447-53. Review.

PMID:
10511709
45.

Import of proteins into peroxisomes.

Hettema EH, Distel B, Tabak HF.

Biochim Biophys Acta. 1999 Aug 12;1451(1):17-34. Review.

46.

Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HS, Tabak HF, Distel B, Wanders RJ.

J Inherit Metab Dis. 1998 Jun;21(3):306-8. No abstract available.

PMID:
9686382
47.

The cytosolic DnaJ-like protein djp1p is involved specifically in peroxisomal protein import.

Hettema EH, Ruigrok CC, Koerkamp MG, van den Berg M, Tabak HF, Distel B, Braakman I.

J Cell Biol. 1998 Jul 27;142(2):421-34.

48.
50.

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B.

Nat Genet. 1997 Apr;15(4):377-80.

PMID:
9090382

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