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Items: 46


Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.

Schaaf GJ, Canibano-Fraile R, van Gestel TJM, van der Ploeg AT, Pijnappel WWMP.

Ann Transl Med. 2019 Jul;7(13):280. doi: 10.21037/atm.2019.04.48. Review.


Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP.

Hum Mutat. 2019 Jun 29. doi: 10.1002/humu.23854. [Epub ahead of print]


A genetic modifier of symptom onset in Pompe disease.

Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.

EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25.


Effects of immunomodulation in classic infantile Pompe patients with high antibody titers.

Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, Bredius RGM, Lankester AC, Driessen GJA, Kamphuis SSM, Pijnappel WWM, van der Ploeg AT.

Orphanet J Rare Dis. 2019 Mar 22;14(1):71. doi: 10.1186/s13023-019-1039-z.


Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.


The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.

Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP.

PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018.


Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP.

Acta Neuropathol Commun. 2018 Nov 7;6(1):119. doi: 10.1186/s40478-018-0620-3.


microRNAs as biomarkers in Pompe disease.

Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G.

Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12.


Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.

van der Wal E, Herrero-Hernandez P, Wan R, Broeders M, In 't Groen SLM, van Gestel TJM, van IJcken WFJ, Cheung TH, van der Ploeg AT, Schaaf GJ, Pijnappel WWMP.

Stem Cell Reports. 2018 Jun 5;10(6):1975-1990. doi: 10.1016/j.stemcr.2018.04.002. Epub 2018 May 3.


High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.

Poelman E, Hoogeveen-Westerveld M, Kroos-de Haan MA, van den Hout JMP, Bronsema KJ, van de Merbel NC, van der Ploeg AT, Pijnappel WWMP.

J Pediatr. 2018 Apr;195:236-243.e3. doi: 10.1016/j.jpeds.2017.11.046. Epub 2018 Feb 7.


Response to Herbert et al.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, van der Beek NAME, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WWMP.

Genet Med. 2017 Nov;19(11):1283-1284. doi: 10.1038/gim.2017.49. Epub 2017 Jun 29. No abstract available.


Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease.

van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2017 Jun 16;7:90-100. doi: 10.1016/j.omtn.2017.03.001. Epub 2017 Mar 14.


GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115. doi: 10.1016/j.omtn.2017.03.002. Epub 2017 Mar 14.


Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP.

Dev Med Child Neurol. 2017 Oct;59(10):1063-1070. doi: 10.1111/dmcn.13467. Epub 2017 May 25.



Pijnappel WW, van Doorn PA, van der Ploeg AT.

Clin Chem. 2017 Jan;63(1):48. doi: 10.1373/clinchem.2016.265280. No abstract available.


From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75. Erratum in: Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e391.


Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Genet Med. 2017 Jan;19(1):90-97. doi: 10.1038/gim.2016.70. Epub 2016 Jun 30.


Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, van Gestel TJ, In 't Groen S, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, van Schaik RH, van der Ploeg AT, van Doorn PA, Pijnappel WW.

Circ Cardiovasc Genet. 2016 Feb;9(1):6-13. doi: 10.1161/CIRCGENETICS.115.001322. Epub 2016 Jan 19.


Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Acta Neuropathol Commun. 2015 Oct 28;3:65. doi: 10.1186/s40478-015-0243-x.


Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS.

Bronsema KJ, Bischoff R, Pijnappel WW, van der Ploeg AT, van de Merbel NC.

Anal Chem. 2015 Apr 21;87(8):4394-401. doi: 10.1021/acs.analchem.5b00169. Epub 2015 Apr 7.


Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.

de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R.

Stem Cell Reports. 2014 Oct 14;3(4):548-55. doi: 10.1016/j.stemcr.2014.07.013. Epub 2014 Sep 11.


Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.

Hum Mutat. 2015 Jan;36(1):57-68. doi: 10.1002/humu.22705. Epub 2014 Dec 1.


A central role for TFIID in the pluripotent transcription circuitry.

Pijnappel WW, Esch D, Baltissen MP, Wu G, Mischerikow N, Bergsma AJ, van der Wal E, Han DW, Bruch Hv, Moritz S, Lijnzaad P, Altelaar AF, Sameith K, Zaehres H, Heck AJ, Holstege FC, Schöler HR, Timmers HT.

Nature. 2013 Mar 28;495(7442):516-9. doi: 10.1038/nature11970. Epub 2013 Mar 17.


ATAC-king the complexity of SAGA during evolution.

Spedale G, Timmers HT, Pijnappel WW.

Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111. Review.


Interconversion between active and inactive TATA-binding protein transcription complexes in the mouse genome.

Choukrallah MA, Kobi D, Martianov I, Pijnappel WW, Mischerikow N, Ye T, Heck AJ, Timmers HT, Davidson I.

Nucleic Acids Res. 2012 Feb;40(4):1446-59. doi: 10.1093/nar/gkr802. Epub 2011 Oct 19.


Tight cooperation between Mot1p and NC2β in regulating genome-wide transcription, repression of transcription following heat shock induction and genetic interaction with SAGA.

Spedale G, Meddens CA, Koster MJ, Ko CW, van Hooff SR, Holstege FC, Timmers HT, Pijnappel WW.

Nucleic Acids Res. 2012 Feb;40(3):996-1008. doi: 10.1093/nar/gkr784. Epub 2011 Oct 5.


MICAL-1 is a negative regulator of MST-NDR kinase signaling and apoptosis.

Zhou Y, Adolfs Y, Pijnappel WW, Fuller SJ, Van der Schors RC, Li KW, Sugden PH, Smit AB, Hergovich A, Pasterkamp RJ.

Mol Cell Biol. 2011 Sep;31(17):3603-15. doi: 10.1128/MCB.01389-10. Epub 2011 Jul 5.


The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties.

Bonnet J, Wang YH, Spedale G, Atkinson RA, Romier C, Hamiche A, Pijnappel WW, Timmers HT, Tora L, Devys D, Kieffer B.

EMBO Rep. 2010 Aug;11(8):612-8. doi: 10.1038/embor.2010.98. Epub 2010 Jul 16.


Identification of Pep4p as the protease responsible for formation of the SAGA-related SLIK protein complex.

Spedale G, Mischerikow N, Heck AJ, Timmers HT, Pijnappel WW.

J Biol Chem. 2010 Jul 23;285(30):22793-9. doi: 10.1074/jbc.M110.108787. Epub 2010 May 24.


A role for BAF57 in cell cycle-dependent transcriptional regulation by the SWI/SNF chromatin remodeling complex.

Hah N, Kolkman A, Ruhl DD, Pijnappel WW, Heck AJ, Timmers HT, Kraus WL.

Cancer Res. 2010 Jun 1;70(11):4402-11. doi: 10.1158/0008-5472.CAN-09-2767. Epub 2010 May 11.


In-depth profiling of post-translational modifications on the related transcription factor complexes TFIID and SAGA.

Mischerikow N, Spedale G, Altelaar AF, Timmers HT, Pijnappel WW, Heck AJ.

J Proteome Res. 2009 Nov;8(11):5020-30. doi: 10.1021/pr900449e.


Human Ccr4-Not complexes contain variable deadenylase subunits.

Lau NC, Kolkman A, van Schaik FM, Mulder KW, Pijnappel WW, Heck AJ, Timmers HT.

Biochem J. 2009 Aug 27;422(3):443-53. doi: 10.1042/BJ20090500.


Dubbing SAGA unveils new epigenetic crosstalk.

Pijnappel WW, Timmers HT.

Mol Cell. 2008 Feb 1;29(2):152-4. doi: 10.1016/j.molcel.2008.01.007.


Quantitative proteomics reveals regulation of dynamic components within TATA-binding protein (TBP) transcription complexes.

Mousson F, Kolkman A, Pijnappel WW, Timmers HT, Heck AJ.

Mol Cell Proteomics. 2008 May;7(5):845-52. Epub 2007 Dec 17.


Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4.

Vermeulen M, Mulder KW, Denissov S, Pijnappel WW, van Schaik FM, Varier RA, Baltissen MP, Stunnenberg HG, Mann M, Timmers HT.

Cell. 2007 Oct 5;131(1):58-69. Epub 2007 Sep 20.


Engineering the mouse genome with bacterial artificial chromosomes to create multipurpose alleles.

Testa G, Zhang Y, Vintersten K, Benes V, Pijnappel WW, Chambers I, Smith AJ, Smith AG, Stewart AF.

Nat Biotechnol. 2003 Apr;21(4):443-7. Epub 2003 Mar 10.


Deciphering protein complexes and protein interaction networks by tandem affinity purification and mass spectrometry: analytical perspective.

Shevchenko A, Schaft D, Roguev A, Pijnappel WW, Stewart AF, Shevchenko A.

Mol Cell Proteomics. 2002 Mar;1(3):204-12.


The Saccharomyces cerevisiae Set1 complex includes an Ash2 homologue and methylates histone 3 lysine 4.

Roguev A, Schaft D, Shevchenko A, Pijnappel WW, Wilm M, Aasland R, Stewart AF.

EMBO J. 2001 Dec 17;20(24):7137-48.


The S. cerevisiae SET3 complex includes two histone deacetylases, Hos2 and Hst1, and is a meiotic-specific repressor of the sporulation gene program.

Pijnappel WW, Schaft D, Roguev A, Shevchenko A, Tekotte H, Wilm M, Rigaut G, Séraphin B, Aasland R, Stewart AF.

Genes Dev. 2001 Nov 15;15(22):2991-3004.


Metabolism to a response pathway selective retinoid ligand during axial pattern formation.

Pijnappel WW, Folkers GE, de Jonge WJ, Verdegem PJ, de Laat SW, Lugtenburg J, Hendriks HF, van der Saag PT, Durston AJ.

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15424-9.


Retinoids and related signals in early development of the vertebrate central nervous system.

Durston AJ, van der Wees J, Pijnappel WW, Godsave SF.

Curr Top Dev Biol. 1998;40:111-75. Review. No abstract available.


Autoinduction of retinoic acid metabolism to polar derivatives with decreased biological activity in retinoic acid-sensitive, but not in retinoic acid-resistant human breast cancer cells.

van der Leede BM, van den Brink CE, Pijnappel WW, Sonneveld E, van der Saag PT, van der Burg B.

J Biol Chem. 1997 Jul 18;272(29):17921-8.


Retinoid signalling and axial patterning during early vertebrate embryogenesis.

Durston AJ, van der Wees J, Pijnappel WW, Schilthuis JG, Godsave SF.

Cell Mol Life Sci. 1997 Apr;53(4):339-49. Review.


Retinoid signalling during embryogenesis.

Pijnappel WW, Hendriks HF, Durston AJ.

Eur J Clin Nutr. 1996 Jul;50 Suppl 3:S29-31. Review.


The retinoid ligand 4-oxo-retinoic acid is a highly active modulator of positional specification.

Pijnappel WW, Hendriks HF, Folkers GE, van den Brink CE, Dekker EJ, Edelenbosch C, van der Saag PT, Durston AJ.

Nature. 1993 Nov 25;366(6453):340-4.


Application of time-domain fitting in the quantification of in vivo 1H spectroscopic imaging data sets.

de Beer R, van den Boogaart A, van Ormondt D, Pijnappel WW, den Hollander JA, Marien AJ, Luyten PR.

NMR Biomed. 1992 Jul-Aug;5(4):171-8.


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