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Items: 1 to 50 of 92

1.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jan 29. doi: 10.1038/s41436-018-0368-y. [Epub ahead of print]

PMID:
30696996
2.

Folding-function relationship of the most common cystic fibrosis-causing CFTR conductance mutants.

van Willigen M, Vonk AM, Yeoh HY, Kruisselbrink E, Kleizen B, van der Ent CK, Egmond MR, de Jonge HR, Braakman I, Beekman JM, van der Sluijs P.

Life Sci Alliance. 2019 Jan 18;2(1). pii: e201800172. doi: 10.26508/lsa.201800172. Print 2019 Feb.

3.

Correction: Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2018 Nov 21. doi: 10.1038/s41436-018-0363-3. [Epub ahead of print]

PMID:
30464259
4.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print] Erratum in: Genet Med. 2019 Jan 29;:.

PMID:
30349098
5.

Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2018 Oct 5. doi: 10.1038/s41436-018-0293-0. [Epub ahead of print] Erratum in: Genet Med. 2018 Nov 21;:.

PMID:
30287924
6.

Lysosomes nor Mice Move Forward without Borcs7.

Joshi U, Houwman JA, van der Sluijs P.

Trends Cell Biol. 2018 Oct;28(10):761-763. doi: 10.1016/j.tcb.2018.08.002. Epub 2018 Sep 2.

PMID:
30185380
7.

Rab4A organizes endosomal domains for sorting cargo to lysosome-related organelles.

Nag S, Rani S, Mahanty S, Bissig C, Arora P, Azevedo C, Saiardi A, van der Sluijs P, Delevoye C, van Niel G, Raposo G, Setty SRG.

J Cell Sci. 2018 Sep 20;131(18). pii: jcs216226. doi: 10.1242/jcs.216226.

8.

C2 Domains of Munc13-4 Are Crucial for Ca2+-Dependent Degranulation and Cytotoxicity in NK Cells.

Bin NR, Ma K, Tien CW, Wang S, Zhu D, Park S, Turlova E, Sugita K, Shirakawa R, van der Sluijs P, Horiuchi H, Sun HS, Monnier PP, Gaisano HY, Sugita S.

J Immunol. 2018 Jul 15;201(2):700-713. doi: 10.4049/jimmunol.1800426. Epub 2018 Jun 8.

PMID:
29884704
9.

Vps3 and Vps8 control integrin trafficking from early to recycling endosomes and regulate integrin-dependent functions.

Jonker CTH, Galmes R, Veenendaal T, Ten Brink C, van der Welle REN, Liv N, de Rooij J, Peden AA, van der Sluijs P, Margadant C, Klumperman J.

Nat Commun. 2018 Feb 23;9(1):792. doi: 10.1038/s41467-018-03226-8.

10.

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, Houdusse A, van IJzendoorn SCD.

Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Erratum in: Hum Mutat. 2018 Oct;39(10):1468.

11.

A novel Munc13-4/S100A10/annexin A2 complex promotes Weibel-Palade body exocytosis in endothelial cells.

Chehab T, Santos NC, Holthenrich A, Koerdt SN, Disse J, Schuberth C, Nazmi AR, Neeft M, Koch H, Man KNM, Wojcik SM, Martin TFJ, van der Sluijs P, Brose N, Gerke V.

Mol Biol Cell. 2017 Jun 15;28(12):1688-1700. doi: 10.1091/mbc.E17-02-0128. Epub 2017 Apr 27.

12.

Vps33B is required for delivery of endocytosed cargo to lysosomes.

Galmes R, ten Brink C, Oorschot V, Veenendaal T, Jonker C, van der Sluijs P, Klumperman J.

Traffic. 2015 Dec;16(12):1288-305. doi: 10.1111/tra.12334. Epub 2015 Oct 21.

13.

Platelet secretory behaviour: as diverse as the granules … or not?

Heijnen H, van der Sluijs P.

J Thromb Haemost. 2015 Dec;13(12):2141-51. doi: 10.1111/jth.13147. Epub 2015 Oct 23. Review.

14.

Erratum to: Methods for analysis of AP-3/Rabin4' in regulation of lysosome distribution.

Ivan V, van der Sluijs P.

Methods Mol Biol. 2015;1298:E1. doi: 10.1007/978-1-4939-2569-8_29. No abstract available.

PMID:
25896102
15.

Methods for analysis of AP-3/Rabin4' in regulation of lysosome distribution.

Ivan V, van der Sluijs P.

Methods Mol Biol. 2015;1298:245-58. doi: 10.1007/978-1-4939-2569-8_21. Erratum in: Methods Mol Biol. 2015;1298:E1.

PMID:
25800848
16.

Membrane rearrangements mediated by coronavirus nonstructural proteins 3 and 4.

Hagemeijer MC, Monastyrska I, Griffith J, van der Sluijs P, Voortman J, van Bergen en Henegouwen PM, Vonk AM, Rottier PJ, Reggiori F, de Haan CA.

Virology. 2014 Jun;458-459:125-35. doi: 10.1016/j.virol.2014.04.027. Epub 2014 May 13.

17.

Late steps in secretory lysosome exocytosis in cytotoxic lymphocytes.

van der Sluijs P, Zibouche M, van Kerkhof P.

Front Immunol. 2013 Nov 18;4:359. doi: 10.3389/fimmu.2013.00359. Review.

18.

AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.

Ivan V, Martinez-Sanchez E, Sima LE, Oorschot V, Klumperman J, Petrescu SM, van der Sluijs P.

PLoS One. 2012;7(10):e48142. doi: 10.1371/journal.pone.0048142. Epub 2012 Oct 29.

19.

Munc13-4*rab27 complex tethers secretory lysosomes at the plasma membrane.

Elstak ED, Neeft M, Nehme NT, Callebaut I, de Saint Basile G, van der Sluijs P.

Commun Integr Biol. 2012 Jan 1;5(1):64-7.

20.

New insights in endosomal dynamics and AMPA receptor trafficking.

van der Sluijs P, Hoogenraad CC.

Semin Cell Dev Biol. 2011 Jul;22(5):499-505. doi: 10.1016/j.semcdb.2011.06.008. Epub 2011 Aug 6. Review.

PMID:
21843653
21.

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

Elstak ED, te Loo M, Tesselaar K, van Kerkhof P, Loeffen J, Grivas D, Hennekam E, Boelens JJ, Hoogerbrugge PM, van der Sluijs P, van Gijn ME, van de Corput L.

Pediatr Blood Cancer. 2012 Apr;58(4):598-605. doi: 10.1002/pbc.23253. Epub 2011 Jul 13.

PMID:
21755595
22.

The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.

Elstak ED, Neeft M, Nehme NT, Voortman J, Cheung M, Goodarzifard M, Gerritsen HC, van Bergen En Henegouwen PM, Callebaut I, de Saint Basile G, van der Sluijs P.

Blood. 2011 Aug 11;118(6):1570-8. doi: 10.1182/blood-2011-02-339523. Epub 2011 Jun 21.

23.

Rab6, Rab8, and MICAL3 cooperate in controlling docking and fusion of exocytotic carriers.

Grigoriev I, Yu KL, Martinez-Sanchez E, Serra-Marques A, Smal I, Meijering E, Demmers J, Peränen J, Pasterkamp RJ, van der Sluijs P, Hoogenraad CC, Akhmanova A.

Curr Biol. 2011 Jun 7;21(11):967-74. doi: 10.1016/j.cub.2011.04.030. Epub 2011 May 19.

24.

A platform for complementation and characterization of familial haemophagocytic lymphohistiocytosis 3 mutations.

Elstak E, de Jong A, van der Sluijs P.

J Immunol Methods. 2011 Feb 28;365(1-2):58-66. doi: 10.1016/j.jim.2010.12.009. Epub 2010 Dec 21.

25.

Rab27a is required for human cytomegalovirus assembly.

Fraile-Ramos A, Cepeda V, Elstak E, van der Sluijs P.

PLoS One. 2010 Dec 8;5(12):e15318. doi: 10.1371/journal.pone.0015318.

26.

GRASP-1 regulates endocytic receptor recycling and synaptic plasticity.

Hoogenraad CC, van der Sluijs P.

Commun Integr Biol. 2010 Sep;3(5):433-5. doi: 10.4161/cib.3.5.12209.

27.

Neuron specific Rab4 effector GRASP-1 coordinates membrane specialization and maturation of recycling endosomes.

Hoogenraad CC, Popa I, Futai K, Martinez-Sanchez E, Wulf PS, van Vlijmen T, Dortland BR, Oorschot V, Govers R, Monti M, Heck AJ, Sheng M, Klumperman J, Rehmann H, Jaarsma D, Kapitein LC, van der Sluijs P.

PLoS Biol. 2010 Jan 19;8(1):e1000283. doi: 10.1371/journal.pbio.1000283. Erratum in: PLoS Biol. 2010;8(9) doi:10.1371/annotation/b17dfb99-8809-4c5a-86c2-c2a0f7ca7f5e.. Sanchez-Martinez, Emma [corrected to Martinez-Sanchez, Emma].

28.

Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.

Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS.

J Biol Chem. 2010 Mar 5;285(10):7794-804. doi: 10.1074/jbc.M109.069088. Epub 2010 Jan 4.

29.

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

Savelkoul PJ, De Mattia F, Li Y, Kamsteeg EJ, Konings IB, van der Sluijs P, Deen PM.

Hum Mutat. 2009 Oct;30(10):E891-903. doi: 10.1002/humu.21082.

PMID:
19585583
30.

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.

van Balkom BW, Boone M, Hendriks G, Kamsteeg EJ, Robben JH, Stronks HC, van der Voorde A, van Herp F, van der Sluijs P, Deen PM.

J Am Soc Nephrol. 2009 May;20(5):990-1001. doi: 10.1681/ASN.2008060648. Epub 2009 Apr 8.

31.

Regulation of retromer recruitment to endosomes by sequential action of Rab5 and Rab7.

Rojas R, van Vlijmen T, Mardones GA, Prabhu Y, Rojas AL, Mohammed S, Heck AJ, Raposo G, van der Sluijs P, Bonifacino JS.

J Cell Biol. 2008 Nov 3;183(3):513-26. doi: 10.1083/jcb.200804048.

32.

A unique residue in rab3c determines the interaction with novel binding protein Zwint-1.

van Vlijmen T, Vleugel M, Evers M, Mohammed S, Wulf PS, Heck AJ, Hoogenraad CC, van der Sluijs P.

FEBS Lett. 2008 Aug 20;582(19):2838-42. doi: 10.1016/j.febslet.2008.07.012. Epub 2008 Jul 14.

33.

Juglone inactivates cysteine-rich proteins required for progression through mitosis.

Fila C, Metz C, van der Sluijs P.

J Biol Chem. 2008 Aug 1;283(31):21714-24. doi: 10.1074/jbc.M710264200. Epub 2008 Jun 6.

34.

Methods for analysis of rab27a/Munc13-4 in secretory lysosome release in hematopoietic cells.

van der Sluijs P, Neeft M, van Vlijmen T, Elstak E, Wieffer M.

Methods Enzymol. 2008;438:185-201. doi: 10.1016/S0076-6879(07)38013-0.

PMID:
18413249
35.

Serotonin transamidates Rab4 and facilitates its binding to the C terminus of serotonin transporter.

Ahmed BA, Jeffus BC, Bukhari SI, Harney JT, Unal R, Lupashin VV, van der Sluijs P, Kilic F.

J Biol Chem. 2008 Apr 4;283(14):9388-98. doi: 10.1074/jbc.M706367200. Epub 2008 Jan 28.

36.

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Kamsteeg EJ, Savelkoul PJ, Hendriks G, Konings IB, Nivillac NM, Lagendijk AK, van der Sluijs P, Deen PM.

Pflugers Arch. 2008 Mar;455(6):1041-54. Epub 2007 Oct 27.

PMID:
17965877
37.

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel.

Kamsteeg EJ, Hendriks G, Boone M, Konings IB, Oorschot V, van der Sluijs P, Klumperman J, Deen PM.

Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18344-9. Epub 2006 Nov 13.

38.

Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells.

Linder MD, Uronen RL, Hölttä-Vuori M, van der Sluijs P, Peränen J, Ikonen E.

Mol Biol Cell. 2007 Jan;18(1):47-56. Epub 2006 Oct 18.

39.

Expression and properties of the Rab4, Rabaptin-5alpha, AP-1 complex in endosomal recycling.

Popa I, Deneka M, van der Sluijs P.

Methods Enzymol. 2005;403:526-40.

PMID:
16473617
40.

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

de Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM.

J Am Soc Nephrol. 2005 Oct;16(10):2872-80. Epub 2005 Aug 24.

42.

Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.

Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, Griffith J, Krijgsveld J, Wulffraat N, Koch H, Heck AJ, Brose N, Kleijmeer M, van der Sluijs P.

Mol Biol Cell. 2005 Feb;16(2):731-41. Epub 2004 Nov 17.

43.

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, Marr N, Arthus MF, Lonergan M, van Os CH, van der Sluijs P, Robertson G, Deen PM.

Hum Mol Genet. 2004 Dec 15;13(24):3045-56. Epub 2004 Oct 27.

PMID:
15509592
44.

Phosphatidylinositol 4-kinasebeta is critical for functional association of rab11 with the Golgi complex.

de Graaf P, Zwart WT, van Dijken RA, Deneka M, Schulz TK, Geijsen N, Coffer PJ, Gadella BM, Verkleij AJ, van der Sluijs P, van Bergen en Henegouwen PM.

Mol Biol Cell. 2004 Apr;15(4):2038-47. Epub 2004 Feb 6.

45.

Protein kinase B/Akt acts via glycogen synthase kinase 3 to regulate recycling of alpha v beta 3 and alpha 5 beta 1 integrins.

Roberts MS, Woods AJ, Dale TC, Van Der Sluijs P, Norman JC.

Mol Cell Biol. 2004 Feb;24(4):1505-15.

46.

Rabip4' is an effector of rab5 and rab4 and regulates transport through early endosomes.

Fouraux MA, Deneka M, Ivan V, van der Heijden A, Raymackers J, van Suylekom D, van Venrooij WJ, van der Sluijs P, Pruijn GJ.

Mol Biol Cell. 2004 Feb;15(2):611-24. Epub 2003 Nov 14.

47.

Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.

Hendriks G, Koudijs M, van Balkom BW, Oorschot V, Klumperman J, Deen PM, van der Sluijs P.

J Biol Chem. 2004 Jan 23;279(4):2975-83. Epub 2003 Oct 30.

48.

Role of cytoplasmic termini in sorting and shuttling of the aquaporin-2 water channel.

van Balkom BW, Graat MP, van Raak M, Hofman E, van der Sluijs P, Deen PM.

Am J Physiol Cell Physiol. 2004 Feb;286(2):C372-9. Epub 2003 Oct 15.

49.

Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum.

Sprong H, Degroote S, Nilsson T, Kawakita M, Ishida N, van der Sluijs P, van Meer G.

Mol Biol Cell. 2003 Aug;14(8):3482-93. Epub 2003 May 3. Erratum in: Mol Biol Cell. 2003 Sep;14(9):preceding table of contents.

50.

Rabaptin-5alpha/rabaptin-4 serves as a linker between rab4 and gamma(1)-adaptin in membrane recycling from endosomes.

Deneka M, Neeft M, Popa I, van Oort M, Sprong H, Oorschot V, Klumperman J, Schu P, van der Sluijs P.

EMBO J. 2003 Jun 2;22(11):2645-57.

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