Search Results - "Pijnappel, Pim W W M"

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening by Faria, Douglas O. S., Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

“…Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database…”
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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 by Schoser, Benedikt, Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, Hout, Johanna M. P., Doorn, Pieter A., Wenninger, Stephan, Ploeg, Ans T.

“…Background and purpose Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization…”
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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype by Vollebregt, Audrey A M, Hoogeveen‐Westerveld, Marianne, Kroos, Marian A, Oussoren, Esmee, Plug, Iris, Ruijter, George J, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…Aim Mucopolysaccharidosis type II (MPS II) is caused by variants in the iduronate‐2‐sulphatase gene (IDS). Patients can be either neuronopathic with…”
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Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism by Canibano‐Fraile, Rodrigo, Harlaar, Laurike, Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., Beek, Nadine A. M. E., Doorn, Pieter A., Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.

“…Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual…”
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Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients by Poelman, Esther, Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, Hout, Johanna M. P., Giessen, Lianne J., Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, Ploeg, Ans T.

“…The aim of this study was to compare the long‐term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow)…”
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Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease by Schaaf, Gerben J, van Gestel, Tom J M, In 't Groen, Stijn L M, de Jong, Bart, Boomaars, Björn, Tarallo, Antonietta, Cardone, Monica, Parenti, Giancarlo, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA)…”
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Broad variation in phenotypes for common GAA genotypes in Pompe disease by Niño, Monica Y., in't Groen, Stijn L. M., Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, Hout, Hannerieke J. M. P., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

“…Patients with the common c.‐32‐13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood…”
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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease by van Kooten, Harmke A, Ditters, Imke A M, Hoogeveen-Westerveld, Marianne, Jacobs, Edwin H, van den Hout, Johanna M P, van Doorn, Pieter A, Pijnappel, W W M Pim, van der Ploeg, Ans T, van der Beek, Nadine A M E

“…Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life…”
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A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle by In 't Groen, Stijn L M, Franken, Marnix, Bock, Theresa, Krüger, Marcus, de Greef, Jessica C, Pijnappel, W W M Pim

“…Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic…”
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A central role for TFIID in the pluripotent transcription circuitry by Pijnappel, W. W. M. Pim, Esch, Daniel, Baltissen, Marijke P. A., Wu, Guangming, Mischerikow, Nikolai, Bergsma, Atze J., van der Wal, Erik, Han, Dong Wook, Bruch, Hermann vom, Moritz, Sören, Lijnzaad, Phillip, Altelaar, A. F. Maarten, Sameith, Katrin, Zaehres, Holm, Heck, Albert J. R., Holstege, Frank C. P., Schöler, Hans R., Timmers, H. T. Marc

“…High levels of TFIID, a basal transcription factor, are found to be essential to induce and maintain the transcriptional program of pluripotent cells. TFIID a…”
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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease by Kuperus, Esther, van der Meijden, Jan C, In 't Groen, Stijn L M, Kroos, Marian A, Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in…”
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MICAL-1 Is a Negative Regulator of MST-NDR Kinase Signaling and Apoptosis by Zhou, Yeping, Adolfs, Youri, Pijnappel, W. W. M. Pim, Fuller, Stephen J., Van der Schors, Roel C., Li, Ka Wan, Sugden, Peter H., Smit, August B., Hergovich, Alexander, Pasterkamp, R. Jeroen

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Quantitative Proteomics Reveals Regulation of Dynamic Components within TATA-binding Protein (TBP) Transcription Complexes by Mousson, Florence, Kolkman, Annemieke, Pijnappel, W. W. M. Pim, Timmers, H. Th. Marc, Heck, Albert J.R.

“…Affinity purification in combination with isotope labeling of proteins has proven to be a powerful method to discriminate specific from nonspecific…”
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In-Depth Profiling of Post-Translational Modifications on the Related Transcription Factor Complexes TFIID and SAGA by Mischerikow, Nikolai, Spedale, Gianpiero, Altelaar, A. F. Maarten, Timmers, H. Th. Marc, Pijnappel, W. W. M. Pim, Heck, Albert J. R

“…The basal transcription factor TFIID and the chromatin-modifying complex SAGA, which have several subunits in common, are crucial for transcription regulation…”
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Probing Genuine Strong Interactions and Post-translational Modifications in the Heterogeneous Yeast Exosome Protein Complex by Synowsky, Silvia A, van den Heuvel, Robert H H, Mohammed, Shabaz, Pijnappel, Pim W W M, Heck, Albert J R

“…The characterization of heterogeneous multicomponent protein complexes, which goes beyond identification of protein subunits, is a challenging task. Here we…”
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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease by Bergsma, Atze J, In 't Groen, Stijn L M, Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…DNA variants affecting mRNA expression and processing in genetic diseases are often missed or poorly characterized. We previously reported a generic assay to…”
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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience by Niño, Monica Y, Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J, Broeders, Mike, van der Beek, Nadine A M E, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Verheijen, Frans W, Pijnappel, W W M Pim

“…Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or…”
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Human Ccr4-Not complexes contain variable deadenylase subunits by Lau, Nga-Chi, Kolkman, Annemieke, van Schaik, Frederik M A, Mulder, Klaas W, Pijnappel, W W M Pim, Heck, Albert J R, Timmers, H Th Marc

“…The Ccr4-Not complex is evolutionarily conserved and important for regulation of mRNA synthesis and decay. The composition of the yeast complex has been well…”
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays by Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J

“…Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as glycogenosis type II (Pompe…”
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Opportunities and challenges for antisense oligonucleotide therapies by Kuijper, Elsa C., Bergsma, Atze J., Pijnappel, W.W.M. Pim, Aartsma‐Rus, Annemieke

“…Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that target RNA in a sequence‐specific manner, inducing targeted…”
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