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253. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

Author

Ayoglu, Burcu, primary, Chaouch, Amina, additional, Lochmüller, Hanns, additional, Politano, Luisa, additional, Bertini, Enrico, additional, Spitali, Pietro, additional, Hiller, Monika, additional, Niks, Eric H, additional, Gualandi, Francesca, additional, Pontén, Fredrik, additional, Bushby, Kate, additional, Aartsma‐Rus, Annemieke, additional, Schwartz, Elena, additional, Le Priol, Yannick, additional, Straub, Volker, additional, Uhlén, Mathias, additional, Cirak, Sebahattin, additional, ‘t Hoen, Peter A C, additional, Muntoni, Francesco, additional, Ferlini, Alessandra, additional, Schwenk, Jochen M, additional, Nilsson, Peter, additional, and Al‐Khalili Szigyarto, Cristina, additional

Published
2014
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257. Fibronectin is a serum biomarker for D uchenne muscular dystrophy

Author

Cynthia Martin, F., primary, Hiller, Monika, additional, Spitali, Pietro, additional, Oonk, Stijn, additional, Dalebout, Hans, additional, Palmblad, Magnus, additional, Chaouch, Amina, additional, Guglieri, Michela, additional, Straub, Volker, additional, Lochmüller, Hanns, additional, Niks, Erik H., additional, Verschuuren, Jan J. G. M., additional, Aartsma‐Rus, Annemieke, additional, Deelder, André M., additional, Burgt, Yuri E. M., additional, and 't Hoen, Peter A. C., additional

Published
2014
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261. Peptide Conjugation of 2′-O-methyl Phosphorothioate Antisense Oligonucleotides Enhances Cardiac Uptake and Exon Skipping in mdx Mice

Author

Jirka, Silvana M.G., primary, Heemskerk, Hans, additional, Tanganyika-de Winter, Christa L., additional, Muilwijk, Daan, additional, Pang, Kar Him, additional, de Visser, Peter C., additional, Janson, Anneke, additional, Karnaoukh, Tatyana G., additional, Vermue, Rick, additional, ‘t Hoen, Peter A.C., additional, van Deutekom, Judith C.T., additional, Aguilera, Begoña, additional, and Aartsma-Rus, Annemieke, additional

Published
2014
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263. The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in mdx Mice

Author

Verhaart, Ingrid E C, primary, van Vliet-van den Dool, Laura, additional, Sipkens, Jessica A, additional, de Kimpe, Sjef J, additional, Kolfschoten, Ingrid G M, additional, van Deutekom, Judith C T, additional, Liefaard, Lia, additional, Ridings, Jim E, additional, Hood, Steve R, additional, and Aartsma-Rus, Annemieke, additional

Published
2014
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265. Preclinical Studies on Intestinal Administration of Antisense Oligonucleotides as a Model for Oral Delivery for Treatment of Duchenne Muscular Dystrophy

Author

van Putten, Maaike, primary, Young, Courtney, additional, van den Berg, Sjoerd, additional, Pronk, Amanda, additional, Hulsker, Margriet, additional, Karnaoukh, Tatyana G, additional, Vermue, Rick, additional, van Dijk, Ko Willems, additional, de Kimpe, Sjef, additional, and Aartsma-Rus, Annemieke, additional

Published
2014
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266. Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides

Author

Karkampouna, Sofia, primary, Kruithof, Boudewijn PT, additional, Kloen, Peter, additional, Obdeijn, Miryam C, additional, van der Laan, Annelies MA, additional, Tanke, Hans J, additional, Kemaladewi, Dwi U, additional, Hoogaars, Willem MH, additional, 't Hoen, Peter AC, additional, Aartsma-Rus, Annemieke, additional, Clark, Ian M, additional, ten Dijke, Peter, additional, Goumans, Marie-José, additional, and Kruithof-de Julio, Marianna, additional

Published
2014
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267. Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases

Author

Tremblay, Jacques P., Xiao, Xiao, Aartsma-Rus, Annemieke, Barbas, Carlos, Blau, Helen M., Bogdanove, Adam J., Boycott, Kym, Braun, Serge, Breakefield, Xandra O., Bueren, Juan A., Buschmann, Michael D., Byrne, Barry J., Calos, Michele, Cathomen, Toni, Chamberlain, Jeffrey, Chuah, Marinee, Cornetta, Kenneth, Davies, Kay E., Dickson, J. George, Duchateau, Philippe, Flotte, Terence R., Gaudet, Daniel, Gersbach, Charles A., Gilbert, Renald, Glorioso, Joseph, Herzog, Roland W., High, Katherine A., Huang, Wenlin, Huard, Johnny, Joung, J. Keith, Liu, Depei, Liu, Dexi, Lochmüller, Hanns, Lustig, Lawrence, Martens, Jeffrey, Massie, Bernard, Mavilio, Fulvio, Mendell, Jerry R., Nathwani, Amit, Ponder, Katherine, Porteus, Matthew, Puymirat, Jack, Samulski, Jude, Takeda, Shin'ichi, Thrasher, Adrian, VandenDriessche, Thierry, Wei, Yuquan, Wilson, James M., Wilton, Steve D., Wolfe, John H., Gao, Guangping, Tremblay, Jacques P., Xiao, Xiao, Aartsma-Rus, Annemieke, Barbas, Carlos, Blau, Helen M., Bogdanove, Adam J., Boycott, Kym, Braun, Serge, Breakefield, Xandra O., Bueren, Juan A., Buschmann, Michael D., Byrne, Barry J., Calos, Michele, Cathomen, Toni, Chamberlain, Jeffrey, Chuah, Marinee, Cornetta, Kenneth, Davies, Kay E., Dickson, J. George, Duchateau, Philippe, Flotte, Terence R., Gaudet, Daniel, Gersbach, Charles A., Gilbert, Renald, Glorioso, Joseph, Herzog, Roland W., High, Katherine A., Huang, Wenlin, Huard, Johnny, Joung, J. Keith, Liu, Depei, Liu, Dexi, Lochmüller, Hanns, Lustig, Lawrence, Martens, Jeffrey, Massie, Bernard, Mavilio, Fulvio, Mendell, Jerry R., Nathwani, Amit, Ponder, Katherine, Porteus, Matthew, Puymirat, Jack, Samulski, Jude, Takeda, Shin'ichi, Thrasher, Adrian, VandenDriessche, Thierry, Wei, Yuquan, Wilson, James M., Wilton, Steve D., Wolfe, John H., and Gao, Guangping

Published
2013

268. “Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic

Author

Gordish-Dressman, Heather, Willmann, Raffaella, Dalle Pazze, Laura, Kreibich, Arati, van Putten, Maaike, Heydemann, Ahlke, Bogdanik, Laurent, Lutz, Cathleen, Davies, Kay, Demonbreun, Alexis R., Duan, Dongsheng, Elsey, David, Fukada, So-ichiro, Girgenrath, Mahasweta, Patrick Gonzalez, J., Grounds, Miranda D., Nichols, Andy, Partridge, Terry, Passini, Marco, Sanarica, Francesca, Schnell, Frederick J., Wells, Dominic J., Yokota, Toshifumi, Young, Courtney S., Zhong, Zhong, Spurney, Christopher, Spencer, Melissa, De Luca, Annamaria, Nagaraju, Kanneboyina, and Aartsma-Rus, Annemieke

Abstract

A new line of dystrophic mdxmice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropathology, with disease modifiers that also occur in DMD patients, making them attractive for efficacy studies and drug development. This workshop aimed at collecting and consolidating available data on the pathological features and the natural history of these new D2/mdxmice, for comparison with classic mdxmice and controls, and to identify gaps in information and their potential value. The overall aim is to establish guidance on how to best use the D2/mdxmouse model in preclinical studies.

Published
2018
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269. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Author

Lochmüller, Hanns, Badowska, Dorota, Thompson, Rachel, Knoers, Nine, Aartsma-Rus, Annemieke, Gut, Ivo, Wood, Libby, Harmuth, Tina, Durudas, Andre, Graessner, Holm, Schaefer, Franz, and Riess, Olaf

Abstract

Although individually uncommon, rare diseases (RDs) collectively affect 6–8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship projects, RD-Connect, NeurOmics, and EURenOmics, to help move the field forward with the ambition of advancing -omics research and data sharing at their core in line with the goals of IRDiRC (International Rare Disease Research Consortium). NeurOmics and EURenOmics generate -omics data and improve diagnosis and therapy in rare renal and neurological diseases, with RD-Connect developing an infrastructure to facilitate the sharing, systematic integration and analysis of these data. Here, we summarize the achievements of these three projects, their impact on the RD community and their vision for the future. We also report from the Joint Outreach Day organized by the three projects on the 3rd of May 2017 in Berlin. The workshop stimulated an open, multi-stakeholder discussion on the challenges of the rare diseases, and highlighted the cross-project cooperation and the common goal: the use of innovative genomic technologies in rare disease research.

Published
2018
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277. DMD transcript imbalance determines dystrophin levels

Author

Spitali, Pietro, primary, Bergen, Janneke C., additional, Verhaart, Ingrid E. C., additional, Wokke, Beatrijs, additional, Janson, Anneke A. M., additional, Eijnde, Rani, additional, Dunnen, Johan T., additional, Laros, Jeroen F. J., additional, Verschuuren, Jan J. G. M., additional, Hoen, Peter A. C. 't, additional, and Aartsma‐Rus, Annemieke, additional

Published
2013
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278. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Author

de Brouwer, Arjan PM, primary, Nabuurs, Sander B, additional, Verhaart, Ingrid EC, additional, Oudakker, Astrid R, additional, Hordijk, Roel, additional, Yntema, Helger G, additional, Hordijk-Hos, Jannet M, additional, Voesenek, Krysta, additional, de Vries, Bert BA, additional, van Essen, Ton, additional, Chen, Wei, additional, Hu, Hao, additional, Chelly, Jamel, additional, den Dunnen, Johan T, additional, Kalscheuer, Vera M, additional, Aartsma-Rus, Annemieke M, additional, Hamel, Ben CJ, additional, van Bokhoven, Hans, additional, and Kleefstra, Tjitske, additional

Published
2013
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279. Antisense-Oligonucleotide Mediated Exon Skipping in Activin-Receptor-Like Kinase 2: Inhibiting the Receptor That Is Overactive in Fibrodysplasia Ossificans Progressiva

Author

Shi, SongTing, primary, Cai, Jie, additional, de Gorter, David J. J., additional, Sanchez-Duffhues, Gonzalo, additional, Kemaladewi, Dwi U., additional, Hoogaars, Willem M. H., additional, Aartsma-Rus, Annemieke, additional, ’t Hoen, Peter A. C., additional, and ten Dijke, Peter, additional

Published
2013
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281. Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

Author

Klymiuk, Nikolai, primary, Blutke, Andreas, additional, Graf, Alexander, additional, Krause, Sabine, additional, Burkhardt, Katinka, additional, Wuensch, Annegret, additional, Krebs, Stefan, additional, Kessler, Barbara, additional, Zakhartchenko, Valeri, additional, Kurome, Mayuko, additional, Kemter, Elisabeth, additional, Nagashima, Hiroshi, additional, Schoser, Benedikt, additional, Herbach, Nadja, additional, Blum, Helmut, additional, Wanke, Rüdiger, additional, Aartsma-Rus, Annemieke, additional, Thirion, Christian, additional, Lochmüller, Hanns, additional, Walter, Maggie C., additional, and Wolf, Eckhard, additional

Published
2013
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285. Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

Author

Tremblay, Jacques P, primary, Xiao, Xiao, additional, Aartsma-Rus, Annemieke, additional, Barbas, Carlos, additional, Blau, Helen M, additional, Bogdanove, Adam J, additional, Boycott, Kym, additional, Braun, Serge, additional, Breakefield, Xandra O, additional, Bueren, Juan A, additional, Buschmann, Michael, additional, Byrne, Barry J, additional, Calos, Michele, additional, Cathomen, Toni, additional, Chamberlain, Jeffrey, additional, Chuah, Marinee, additional, Cornetta, Kenneth, additional, Davies, Kay E, additional, Dickson, J George, additional, Duchateau, Philippe, additional, Flotte, Terence R, additional, Gaudet, Daniel, additional, Gersbach, Charles A, additional, Gilbert, Renald, additional, Glorioso, Joseph, additional, Herzog, Roland W, additional, High, Katherine A, additional, Huang, Wenlin, additional, Huard, Johnny, additional, Joung, J Keith, additional, Liu, Depei, additional, Liu, Dexi, additional, Lochmüller, Hanns, additional, Lustig, Lawrence, additional, Martens, Jeffrey, additional, Massie, Bernard, additional, Mavilio, Fulvio, additional, Mendell, Jerry R, additional, Nathwani, Amit, additional, Ponder, Katherine, additional, Porteus, Matthew, additional, Puymirat, Jack, additional, Samulski, Jude, additional, Takeda, Shin'ichi, additional, Thrasher, Adrian, additional, VandenDriessche, Thierry, additional, Wei, Yuquan, additional, Wilson, James M, additional, Wilton, Steve D, additional, Wolfe, John H, additional, and Gao, Guangping, additional

Published
2013
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287. Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: “Translating“ the Translational

Author

McCormack, Pauline, primary, Woods, Simon, additional, Aartsma-Rus, Annemieke, additional, Hagger, Lynn, additional, Herczegfalvi, Agnes, additional, Heslop, Emma, additional, Irwin, Joseph, additional, Kirschner, Janbernd, additional, Moeschen, Patrick, additional, Muntoni, Francesco, additional, Ouillade, Marie-Christine, additional, Rahbek, Jes, additional, Rehmann-Sutter, Christoph, additional, Rouault, Francoise, additional, Sejersen, Thomas, additional, Vroom, Elizabeth, additional, Straub, Volker, additional, Bushby, Kate, additional, and Ferlini, Alessandra, additional

Published
2013
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290. Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.

Author

Pijl, Elizabeth M., Putten, Maaike, Niks, Erik H., Verschuuren, Jan J. G. M., Aartsma‐Rus, Annemieke, Plomp, Jaap J., and Maccaferri, Gianmaria

Subjects
DUCHENNE muscular dystrophy, NEUROMUSCULAR diseases, LABORATORY mice, SYNAPSES, DYSTROPHIN, SARCOLEMMA, MYONEURAL junction, MUSCLE weakness
Abstract

Duchenne muscular dystrophy ( DMD) is an X-linked myopathy caused by dystrophin deficiency. Dystrophin is present intracellularly at the sarcolemma, connecting actin to the dystrophin-associated glycoprotein complex. Interestingly, it is enriched postsynaptically at the neuromuscular junction ( NMJ), but its synaptic function is largely unknown. Utrophin, a dystrophin homologue, is also concentrated at the NMJ, and upregulated in DMD. It is possible that the absence of dystrophin at NMJs in DMD causes neuromuscular transmission defects that aggravate muscle weakness. We studied NMJ function in mdx mice (lacking dystrophin) and wild type mice. In addition, mdx/utrn+/− and mdx/utrn−/− mice (lacking utrophin) were used to investigate influences of utrophin levels. The three Duchenne mouse models showed muscle weakness when comparatively tested in vivo, with mdx/utrn−/− mice being weakest. Ex vivo muscle contraction and electrophysiological studies showed a reduced safety factor of neuromuscular transmission in all models. NMJs had ~ 40% smaller miniature endplate potential amplitudes compared with wild type, indicating postsynaptic sensitivity loss for the neurotransmitter acetylcholine. However, nerve stimulation-evoked endplate potential amplitudes were unchanged. Consequently, quantal content (i.e. the number of acetylcholine quanta released per nerve impulse) was considerably increased. Such a homeostatic compensatory increase in neurotransmitter release is also found at NMJs in myasthenia gravis, where autoantibodies reduce acetylcholine receptors. However, high-rate nerve stimulation induced exaggerated endplate potential rundown. Study of NMJ morphology showed that fragmentation of acetylcholine receptor clusters occurred in all models, being most severe in mdx/utrn−/− mice. Overall, we showed mild 'myasthenia-like' neuromuscular synaptic dysfunction in several Duchenne mouse models, which possibly affects muscle weakness and degeneration. [ABSTRACT FROM AUTHOR]

Published
2016
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291. Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Author

Rutten, Julie W., Dauwerse, Hans G., Peters, Dorien J. M., Goldfarb, Andrew, Venselaar, Hanka, Haffner, Christof, van Ommen, Gert-Jan B., Aartsma-Rus, Annemieke M., and Lesnik Oberstein, Saskia A. J.

Subjects
CYSTEINE, GENETIC mutation, PROTEINS, BLOOD flow, EPIDERMAL growth factor, SMOOTH muscle physiology, AMINO acids, CELL receptors, DOCUMENTATION, EPITHELIAL cells, GENE therapy, GENES, RESEARCH methodology, TISSUE culture, CADASIL syndrome, DIAGNOSIS
Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL, is a hereditary cerebral small vessel disease caused by characteristic cysteine altering missense mutations in the NOTCH3 gene. NOTCH3 mutations in CADASIL result in an uneven number of cysteine residues in one of the 34 epidermal growth factor like-repeat (EGFr) domains of the NOTCH3 protein. The consequence of an unpaired cysteine residue in an EGFr domain is an increased multimerization tendency of mutant NOTCH3, leading to toxic accumulation of the protein in the (cerebro)vasculature, and ultimately reduced cerebral blood flow, recurrent stroke and vascular dementia. There is no therapy to delay or alleviate symptoms in CADASIL. We hypothesized that exclusion of the mutant EGFr domain from NOTCH3 would abolish the detrimental effect of the unpaired cysteine and thus prevent toxic NOTCH3 accumulation and the negative cascade of events leading to CADASIL. To accomplish this NOTCH3 cysteine correction by EGFr domain exclusion, we used pre-mRNA antisense-mediated skipping of specific NOTCH3 exons. Selection of these exons was achieved using in silico studies and based on the criterion that skipping of a particular exon or exon pair would modulate the protein in such a way that the mutant EGFr domain is eliminated, without otherwise corrupting NOTCH3 structure and function. Remarkably, we found that this strategy closely mimics evolutionary events, where the elimination and fusion of NOTCH EGFr domains led to the generation of four functional NOTCH homologues. We modelled a selection of exon skip strategies using cDNA constructs and show that the skip proteins retain normal protein processing, can bind ligand and be activated by ligand. We then determined the technical feasibility of targeted NOTCH3 exon skipping, by designing antisense oligonucleotides targeting exons 2-3, 4-5 and 6, which together harbour the majority of distinct CADASIL-causing mutations. Transfection of these antisense oligonucleotides into CADASIL patient-derived cerebral vascular smooth muscle cells resulted in successful exon skipping, without abrogating NOTCH3 signalling. Combined, these data provide proof of concept for this novel application of exon skipping, and are a first step towards the development of a rational therapeutic approach applicable to up to 94% of CADASIL-causing mutations. [ABSTRACT FROM AUTHOR]

Published
2016
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292. The importance of genetic diagnosis for Duchenne muscular dystrophy.

Author

Aartsma-Rus, Annemieke, Ginjaar, Ieke B., and Bushby, Kate

Subjects
HUMAN chromosome abnormality diagnosis, DIAGNOSIS of Duchenne muscular dystrophy, DUCHENNE muscular dystrophy, TREATMENT of Duchenne muscular dystrophy, BECKER muscular dystrophy, PATIENTS
Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD. [ABSTRACT FROM AUTHOR]

Published
2016
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293. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Author

Lemmers, Richard J L F, primary, Tawil, Rabi, additional, Petek, Lisa M, additional, Balog, Judit, additional, Block, Gregory J, additional, Santen, Gijs W E, additional, Amell, Amanda M, additional, van der Vliet, Patrick J, additional, Almomani, Rowida, additional, Straasheijm, Kirsten R, additional, Krom, Yvonne D, additional, Klooster, Rinse, additional, Sun, Yu, additional, den Dunnen, Johan T, additional, Helmer, Quinta, additional, Donlin-Smith, Colleen M, additional, Padberg, George W, additional, van Engelen, Baziel G M, additional, de Greef, Jessica C, additional, Aartsma-Rus, Annemieke M, additional, Frants, Rune R, additional, de Visser, Marianne, additional, Desnuelle, Claude, additional, Sacconi, Sabrina, additional, Filippova, Galina N, additional, Bakker, Bert, additional, Bamshad, Michael J, additional, Tapscott, Stephen J, additional, Miller, Daniel G, additional, and van der Maarel, Silvère M, additional

Published
2012
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296. Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

Author

van Putten, Maaike, primary, Kumar, Darshan, additional, Hulsker, Margriet, additional, Hoogaars, Willem M.H., additional, Plomp, Jaap J., additional, van Opstal, Annemarieke, additional, van Iterson, Maarten, additional, Admiraal, Peter, additional, van Ommen, Gert-Jan B., additional, ‘t Hoen, Peter A.C., additional, and Aartsma-Rus, Annemieke, additional

Published
2012
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300. The Effects of Low Levels of Dystrophin on Mouse Muscle Function and Pathology

Author

van Putten, Maaike, primary, Hulsker, Margriet, additional, Nadarajah, Vishna Devi, additional, van Heiningen, Sandra H., additional, van Huizen, Ella, additional, van Iterson, Maarten, additional, Admiraal, Peter, additional, Messemaker, Tobias, additional, den Dunnen, Johan T., additional, 't Hoen, Peter A. C., additional, and Aartsma-Rus, Annemieke, additional

Published
2012
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