Perturbation of the yeast N-acetyltransferase NatB induces elevation of protein phosphorylation levels
Helbig, Andreas O, Rosati, Sara, Pijnappel, Pim W W M, van Breukelen, Bas, Timmers, Marc H T H, Mohammed, Shabaz, Slijper, Monique, Heck, Albert J R
Published in BMC genomics (02.12.2010)
Published in BMC genomics (02.12.2010)
Get full text
Journal Article
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides
Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim
Published in Molecular therapy. Nucleic acids (13.09.2016)
Published in Molecular therapy. Nucleic acids (13.09.2016)
Get full text
Journal Article
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease
Schaaf, Gerben J, van Gestel, Tom J M, Brusse, Esther, Verdijk, Robert M, de Coo, Irenaeus F M, van Doorn, Pieter A, van der Ploeg, Ans T, Pijnappel, W W M Pim
Published in Acta neuropathologica communications (28.10.2015)
Published in Acta neuropathologica communications (28.10.2015)
Get full text
Journal Article
Opportunities and challenges for antisense oligonucleotide therapies
Kuijper, Elsa C., Bergsma, Atze J., Pijnappel, W.W.M. Pim, Aartsma‐Rus, Annemieke
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
Get full text
Journal Article
Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells
Kobolák, Julianna, Molnár, Kinga, Varga, Eszter, Bock, István, Jezsó, Bálint, Téglási, Annamária, Zhou, Shuling, Lo Giudice, Maria, Hoogeveen-Westerveld, Marianne, Pijnappel, WWM Pim, Phanthong, Phetcharat, Varga, Norbert, Kitiyanant, Narisorn, Freude, Kristine, Nakanishi, Hideyuki, László, Lajos, Hyttel, Poul, Dinnyés, András
Published in Experimental cell research (15.07.2019)
Published in Experimental cell research (15.07.2019)
Get full text
Journal Article
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
Get full text
Journal Article
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in Molecular therapy. Nucleic acids (16.06.2017)
Published in Molecular therapy. Nucleic acids (16.06.2017)
Get full text
Journal Article
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy
de Vries, Juna M., Kuperus, Esther, Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Wens, Stephan C.A., Stok, Merel, van der Beek, Nadine A.M.E., Kruijshaar, Michelle E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
Get full text
Journal Article
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
van der Wal, Erik, Bergsma, Atze J., van Gestel, Tom J.M., in ‘t Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in Molecular therapy. Nucleic acids (16.06.2017)
Published in Molecular therapy. Nucleic acids (16.06.2017)
Get full text
Journal Article
Probing Genuine Strong Interactions and Post-translational Modifications in the Heterogeneous Yeast Exosome Protein Complex
Synowsky, Silvia A, van den Heuvel, Robert H H, Mohammed, Shabaz, Pijnappel, Pim W W M, Heck, Albert J R
Published in Molecular & cellular proteomics (01.09.2006)
Published in Molecular & cellular proteomics (01.09.2006)
Get full text
Journal Article