Willeke van Roon
Hoogleraar humane genetica
- Naam
- Prof.dr. W.M.C. van Roon
- Telefoon
- +31 71 526 52694
- w.vanroon@lumc.nl
Willeke M.C. van Roon-Mom is hoogleraar Humane Genetica, in het bijzonder van translationele studies van neurodegeneratieve aandoeningen. Daarnaast is zij vice-voorzitter van de Biomedische Wetenschappen Master Examencommissie, algemeen bestuurslid van het Medical Genomics LUMC onderzoeksthema, co-director van het Dutch Center for RNA Therapeutics (DCRT). Ik ben een actief lid geweest van het European Huntington’s Disease Network, ben lid van de Wetenschappelijke en Bio-ethische Adviesraad van de EHDN en de Hersenstichting en ben verkozen tot kernlid van de internationale Ataxia Advisory Committee for Therapeutics. Daarnaast ben ik bestuurslid van het Nederlands ZvH Onderzoeksnetwerk.
Meer informatie over Willeke van Roon
Willeke M.C. van Roon-Mom is hoogleraar Humane Genetica, in het bijzonder van translationele studies van neurodegeneratieve aandoeningen. Daarnaast is zij vice-voorzitter van de Biomedische Wetenschappen Master Examencommissie, algemeen bestuurslid van het Medical Genomics LUMC onderzoeksthema, co-director van het Dutch Center for RNA Therapeutics (DCRT). Ik ben een actief lid geweest van het European Huntington’s Disease Network, ben lid van de Wetenschappelijke en Bio-ethische Adviesraad van de EHDN en de Hersenstichting en ben verkozen tot kernlid van de internationale Ataxia Advisory Committee for Therapeutics. Daarnaast ben ik bestuurslid van het Nederlands ZvH Onderzoeksnetwerk.
Humane Genetica
Het werk van Willeke van Roon-Mom is translationeel waarbij ze nauw samenwerkt met klinische afdelingen en het bedrijfsleven. Unieke crowd-funding acties door patiënten zorgen niet alleen voor financiële input in haar onderzoek, maar zorgen ook dat het perspectief van patiënten worden meegenomen in de onderzoeksprojecten. Het hoofd thema van haar onderzoek betreft autosomaal dominant overerfbare vormen van neurodegeneratieve aandoeningen, die allemaal abnormale eiwitophopingen in de hersenen als kenmerk hebben. Ze bestudeert ziekte mechanismes, potentiële biomarkers, en gebruikt deze informatie om nieuwe therapieën te ontwikkelen, met een focus op RNA targeting therapieen. Met deze benoeming wil ze haar expertise gaan toepassen op ultra-zeldzame aandoeningen. Haar onderzoek maakt onderdeel uit van de LUMC thema’s Neuroscience, Medical Genomics, Cell Tissue en Organs as well as Academic Pharma. De NWA routes waar haar Onderzoek op aansluit zijn regenerative medicine, personalised medicine, NeuroLabNL and health research, prevention and treatment.
Wetenschappelijke carrière
Willeke M.C. van Roon-Mom is hoogleraar Humane Genetica, in het bijzonder van translationele studies van neurodegeneratieve aandoeningen. Ze studeerde Medische Biologie aan de Rijksuniversiteit Groningen, en behaalde haar PhD in oktober 2004 aan de University of Auckland in Nieuw Zeeland aan eiwit interacties in de ziekte van Huntington. Na een PostDoc in Nieuw Zeeland kwam ze terug naar Nederland om te werken bij de afdeling Humane Genetica van het LUMC, waar ze haar eigen onderzoeksgroep startte. Ze is mede-oprichter van het Dutch Center for RNA Therapeutics die als doel heeft om RNA targeting therapieën te ontwikkelen voor patiënten met zeer zeldzame mutaties. Haar benoeming op professor was op 1 oktober 2021 en haar oratie op 28 maart 2022.
Hoogleraar humane genetica
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
- Kuijper, E.C.; Overzier, M.; Suidgeest, E.; Dzyubachyk, O.; Maguin, C.; Pérot, J.B.; Flament, J.; Ariyurek, Y.; Mei, H.L.; Buijsen, R.A.M.; Weerd, L. van der & Roon-Mom, W. van (2024), Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice, Neurobiology of Disease 190.
- Tramutola, A.; Bakels, H.S.; Perrone, F.; Nottia, M. di; Mazza, T.; Abruzzese, M.P.; Zoccola, M.; Pagnotta, S.; Carrozzo, R.; Bot, S.T.D.; Perluigi, M.; Roon-Mom, W.M.C. van & Squitieri, F. (2023), GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts, EBioMedicine 97.
- Pilotto, F.; Douthwaite, C.; Diab, R.; Ye, X.Q.; Qassab, Z. al; Tietje, C.; Mounassir, M.; Odriozola, A.; Thapa, A.; Buijsen, R.A.M.; Lagache, S.; Uldry, A.C.; Heller, M.; Muller, S.; Roon-Mom, W.M.C.V.; Zuber, B.; Liebscher, S. & Saxena, S. (2023), Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1, Neuron 111(16): 2523-+.
- Roon-Mom, W. van; Ferguson, C. & Aartsma-Rus, A. (2023), From Failure to Meet the Clinical Endpoint to US Food and Drug Administration Approval: 15th Antisense Oligonucleotide Therapy Approved Qalsody (Tofersen) for Treatment of SOD1 Mutated Amyotrophic Lateral Sclerosis, Nucleic Acid Therapeutics 33(4): 234-237.
- Ouwerkerk, J.; Feleus, S.; Zwaan, K.F. van der; Li, Y.L.; Roos, M.; Roon-Mom, W.M.C. van; Bot, S.T. de; Wolstencroft, K.J. & Mina, E. (2023), Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction, Orphanet Journal of Rare Diseases 18(1).
- Buijsen, R.A.M.; Hu, M.C.; Saez-Gonzalez, M.; Notopoulou, S.; Mina, E.; Koning, W.; Gardiner, S.L.; Graaf, L. van der; Daoutsali, E.; Pepers, B.A.; Mei, H.L.; Dis, V. van; Frimat, J.P.; Maagdenberg, A.M.J.M. van den; Petrakis, S. & Roon-Mom, W.M.C. van (2023), Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures, Movement Disorders.
- Kerkhof, L.M.C.; Warrenburg, B.P.C. van de; Roon-Mom, W.M.C. van & Buijsen, R.A.M. (2023), Therapeutic Strategies for Spinocerebellar Ataxia Type 1, Biomolecules 13(5).
- Prooije, T. van; Ruigrok, S.; Berkmortel, N. van den; Maas, R.P.P.W.M.; Wijn, S.; Roon-Mom, W.M.C. van; Warrenburg, B. van de & Grutters, J.P.C. (2023), The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study, Journal of Neurology.
- Daoutsali, E.; Pepers, B.A.; Stamatakis, S.; Graaf, L.M. van der; Terwindt, G.M.; Parfitt, D.A.; Buijsen, R.A.M. & Roon-Mom, W.M.C. van (2023), Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients, Frontiers in Aging Neuroscience 14.
- Goyenvalle, A.; Jimenez-Mallebrera, C.; Roon, W. van; Sewing, S.; Krieg, A.M.; Arechavala-Gomeza, V. & Andersson, P. (2023), Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides, Nucleic Acid Therapeutics 33(1): 1-16.
- Aartsma-Rus, A.; Garanto, A.; Roon-Mom, W. van; McConnell, E.M.; Suslovitch, V.; Yan, W.X.; Watts, J.K.; Yu, T.W. & N 1 Collaborative (2022), Consensus guidelines for the design and in vitro preclinical efficacy testing N-of-1 exon skipping antisense oligonucleotides, Nucleic Acid Therapeutics 33(1).
- Aartsma-Rus, A.; Garanto, A.; Roon-Mom, W. van; McConnell, E.M.; Suslovitch, V.; Yan, W.X.; Watts, J.K.; Yu, T.W. & N 1 Collaborative (2023), Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides, Nucleic Acid Therapeutics 33(1): 17-25.
- Bakels, H.S.; Duinen, S.G. van; Bresser, J. de; Roon-Mom, W.M.C. van; Weerd, L. van der & Bot, S.T. de (2022), Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease, Neuropathology and Applied Neurobiology 49(1).
- Kenkhuis, B.; Eekeren, M. van; Parfitt, D.A.; Ariyurek, Y.; Banerjee, P.; Priller, J.; Weerd, L. van der & Roon-Mom, W.M.C. van (2022), Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia, Stem Cell Reports 17(6): 1351-1365.
- Kenkhuis, B.; Somarakis, A.; Kleindouwel, L.R.T.; Roon-Mom, W.M.C. van; Hollt, T. & Weerd, L. van der (2022), Co-expression patterns of microglia markers Iba1, TMEM119 and P2RY12 in Alzheimer's disease, Neurobiology of Disease 167.
- Roon W.M.C. van (28 maart 2022), Translationeel onderzoek, waar kleine onderdelen samen het grotere geheel maken (Oratie, Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University). Leiden: Universiteit Leiden.
- Kuijper, E.C.; Toonen, L.J.A.; Overzier, M.; Tsonaka, R.; Hettne, K.; Roos, M.; Roon-Mom, W.M.C. van & Mina, E. (2022), Huntington disease gene expression signatures in blood compared to brain of YAC128 mice as candidates for monitoring of pathology, Molecular Neurobiology 59(4): 2532-2551.
- Bakels, H.S.; Roos, R.A.C.; Roon-Mom, W.M.C. van & Bot, S.T. de (2021), Juvenile-onset Huntington disease pathophysiology and neurodevelopment, Movement Disorders 37(1).
- Heinz, A.; Schilling, J.; Roon-Mom, W. van & Krauss, S. (2021), The MID1 protein, Frontiers in Genetics 12.
- Synofzik, M.; Roon-Mom, W.M.C. van; Marckmann, G.; Duyvenvoorde, H.A. van; Graessner, H.; Schule, R.; Aartsma-Rus, A. & 1M1M Consortium (2021), Preparing n-of-1 antisense oligonucleotide treatments for rare neurological diseases in Europe, Nucleic Acid Therapeutics 32(2).
- Daoutsali, E.; Hailu, T.T.; Buijsen, R.A.M.; Pepers, B.A.; Graaf, L.M. van der; Verbeek, M.M.; Curtis, D.; Vlaam, T. de & Roon-Mom, W.M.C. van (2021), Antisense oligonucleotide-induced amyloid precursor protein splicing modulation as a therapeutic approach for Dutch-type cerebral amyloid angiopathy, Nucleic Acid Therapeutics 31(5).
- Hommersom, M.P.; Buijsen, R.A.M.; Roon-Mom, W.M.C. van; Warrenburg, B.P.C. van de & Bokhoven, H. van (2021), Human induced pluripotent stem cell-based modelling of spinocerebellar ataxias, Stem Cell Reviews and Reports 18.
- Hammond, S.M.; Aartsma-Rus, A.; Alves, S.; Borgos, S.E.; Buijsen, R.A.M.; Collin, R.W.J.; Covello, G.; Denti, M.A.; Desviat, L.R.; Echevarria, L.; Foged, C.; Gaina, G.; Garanto, A.; Goyenvalle, A.T.; Guzowska, M.; Holodnuka, I.; Jones, D.R.; Krause, S.; Lehto, T.; Montolio, M.; Roon-Mom, W. van & Arechavala-Gomeza, V. (2021), Delivery of oligonucleotide-based therapeutics: challenges and opportunities, EMBO Molecular Medicine 13(4).
- Kenkhuis, B.; Somarakis, A.; Haan, L. de; Dzyubachyk, O.; IJsselsteijn, M.E.; Miranda, N.F.C.C. de; Lelieveldt, B.P.F.; Dijkstra, J.; Roon-Mom, W.M.C. van; Hollt, T. & Weerd, L. van der (2021), Iron loading is a prominent feature of activated microglia in Alzheimer's disease patients, Acta Neuropathologica Communications 9(1).
- Roux, T.; Barbier, M.; Papin, M.; Davoine, C.S.; Sayah, S.; Coarelli, G.; Charles, P.; Marelli, C.; Parodi, L.; Tranchant, C.; Goizet, C.; Klebe, S.; Lohmann, E.; Maldergem, L. van; Broeckhoven, C. van; Coutelier, M.; Tesson, C.; Stevanin, G.; Duyckaerts, C.; Brice, A.; Durr, A. & SPATAX Network (2020), Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020), Genetics in Medicine.
- Fuady, A.M.; Roon-Mom, W.M.C. van; Kielbasa, S.M.; Uh, H.W. & Houwing-Duistermaat, J.J. (2020), Statistical method for modeling sequencing data from different technologies in longitudinal studies with application to Huntington disease, Biometrical Journal 63(4).
- Fulgencio-Covian, A.; Alvarez, M.; Pepers, B.A.; Lopez-Marquez, A.; Ugarte, M.; Perez, B.; Roon-Mom, W.M.C. van; Desviat, L.R. & Richard, E. (2020), Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology, Stem Cell Research 49.
- Bulk, M.; Hegeman-Kleinn, I.; Kenkhuis, B.; Suidgeest, E.; Roon-Mom, W. van; Lewerenz, J.; Duinen, S. van; Ronen, I. & Weerd, L. van der (2020), Pathological characterization of T2*-weighted MRI contrast in the striatum of Huntington's disease patients, NeuroImage: Clinical 28.
- Moursel, L.G.; Graaf, L.M. van der; Bulk, M.; Roon-Mom, W.M.C. van & Weerd, L. van der (2019), Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy, Brain Pathology 29(6): 793-802.
- Wal, E. van der; Hamer, B. den; Vliet, P.J. van der; Tok, M.; Brands, T.; Eussen, B.; Lemmers, R.J.L.F.; Freund, C.; Klein, A. de; Buijsen, R.A.M.; Roon-Mom, W.M.C. van; Tawil, R.; Maarel, S.M. van der & Greef, J.C. de (2019), Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients, Stem Cell Research 40.
- Milanese, C.; Payan-Gomez, C.; Galvani, M.; Gonzalez, N.M.; Tresini, M.; Abdellah, S.N.; Roon-Mom, W.M.C. van; Figini, S.; Marinus, J.; Hilten, J.J. van & Mastroberardino, P.G. (2019), Peripheral mitochondrial function correlates with clinical severity in idiopathic Parkinson's disease, Movement Disorders 34(8): 1192-1202.
- Graaf, L.M. van der; Gardiner, S.L.; Tok, M.; Brands, T.; Boogaard, M.W.; Pepers, B.A.; Eussen, B.; Klein, A. de; Aziz, N.A.; Freund, C.; Buijsen, R.A.M. & Roon-Mom, W.M.C. van (2019), Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease, Stem Cell Research 39.
- Schilling, J.; Broemer, M.; Atanassov, I.; Duernberger, Y.; Vorberg, I.; Dieterich, C.; Dagane, A.; Dittmar, G.; Wanker, E.; Roon-Mom, W. van; Winter, J. & Krauss, S. (2019), Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease, Journal of Molecular Biology 431(9): 1869-1877.
- Buijsen, R.A.M.; Toonen, L.J.A.; Gardiner, S.L. & Roon-Mom, W.M.C. van (2019), Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias, Neurotherapeutics 16(2): 263-286.
- Daoutsali, E.; Buijsen, R.A.M.; Pas, S. van de; Jong, A. 't; Mikkers, H.; Brands, T.; Eussen, B.; Klein, A. de; Graaf, L.M. van der; Pepers, B.A.; Freund, C.; Terwindt, G.M.; Orlova, V.V. & Roon-Mom, W.M.C. van (2019), Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient, Stem Cell Research 34.
- Mahinrad, S.; Bulk, M.; Velpen, I. van der; Mahfouz, A.; Roon-Mom, W. van; Fedarko, N.; Yasar, S.; Sabayan, B.; Heemst, D. van & Weerd, L. van der (2018), Natriuretic Peptides in Post-mortem Brain Tissue and Cerebrospinal Fluid of Non-demented Humans and Alzheimer's Disease Patients, Frontiers in Neuroscience 12.
- Gardiner, S.L.; Milanese, C.; Boogaard, M.W.; Buijsen, R.A.M.; Hogenboom, M.; Roos, R.A.C.; Mastroberardino, P.G.; Roon-Mom, W.M.C. van & Aziz, N.A. (2018), Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset, Neurology Genetics 4(5).
- Moursel, L.G.; Munting, L.P.; Graaf, L.M. van der; Duinen, S.G. van; Goumans, M.J.T.H.; Ueberham, U.; Natte, R.; Buchem, M.A. van; Roon-Mom, W.M.C. van & Weerd, L. van der (2018), TGF beta pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type, Brain Pathology 28(4): 495-506.
- Toonen, L.J.A.; Overzier, M.; Evers, M.M.; Leon, L.G.; Zeeuw, S.A.J. van der; Mei, H.L.; Kielbasa, S.M.; Goeman, J.J.; Hettne, K.M.; Magnusson, O.T.; Poirel, M.; Seyer, A.; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2018), Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model, Molecular Neurodegeneration 13.
- Buijsen, R.A.M.; Gardiner, S.L.; Bouma, M.J.; Graaf, L.M. van der; Boogaard, M.W.; Pepers, B.A.; Eussen, B.; Klein, A. de; Freund, C. & Roon-Mom, W.M.C. van (2018), Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B, Stem Cell Research 29: 125-128.
- Roon-Mom, W.M.C. van; Roos, R.A.C. & Bot, S.T. de (2018), Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients, Nucleic Acid Therapeutics 28(2): 59-62.
- Toonen, L.J.A.; Casaca-Carreira, J.; Pellise-Tintore, M.; Mei, H.L.; Temel, Y.; Jahanshahi, A. & Roon-Mom, W.M.C. van (2018), Intracerebroventricular Administration of a 2 '-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain, Nucleic Acid Therapeutics 28(2): 63-73.
- Moursel, L.G.; Roon-Mom, W.M.C. van; Kielbasa, S.M.; Mei, H.; Buermans, H.P.J.; Graaf, L.M. van der; Hettne, K.M.; Meijer, E.J. de; Duinen, S.G. van; Laros, J.F.J.; Buchem, M.A. van; Hoen, P.A.C.T.; Maarel, S.M. van der & Weerd, L. van der (2018), Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type, Frontiers in Aging Neuroscience 10.
- Gardiner, S.L.; Belzen, M.J. van; Boogaard, M.W.; Roon-Mom, W.M.C. van; Rozing, M.P.; Hemert, A.M. van; Smit, J.H.; Beekman, A.T.F.; Grootheest, G. van; Schoevers, R.A.; Voshaar, R.C.O.; Roos, R.A.C.; Comijs, H.C.; Penninx, B.W.J.H.; Mast, R.C. van der & Aziz, N.A. (2017), Huntingtin gene repeat size variations affect risk of lifetime depression, Translational Psychiatry 7.
- Sarah L. Gardiner, Martine J. van Belzen, Merel W. Boogaard, Willeke M. C. van Roon-Mom, Maarten P. Rozing, Albert M. van Hemert, Johannes H. Smit, Aartjan T. F. Beekman, Gerard van Grootheest, Robert A. Schoevers, Richard C. Oude Voshaar, Raymund A. C. Roos, Hannie C. Comijs, Brenda W. J. H. Penninx & Roos C. van der Mast and N. Ahmad Aziz (2017), Huntingtin gene repeat size variations affect risk of lifetime depression, Translational Psychiatry 7(12).
- Keo, A.; Aziz, N.A.; Dzyubachyk, O.; Grond, J. van der; Roon-Mom, W.M.C. van; Lelieveldt, B.P.F.; Reinders, M.J.T. & Mahfouz, A. (2017), Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease, Frontiers in Molecular Neuroscience 10.
- Toonen, L.J.A.; Rigo, F.; Attikum, H. van & Roon-Mom, W.M.C. van (2017), Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice, Molecular Therapy - Nucleic Acids 8: 232-242.
- Stuitje, G.; Belzen, M.J. van; Gardiner, S.L.; Roon-Mom, W.M.C. van; Boogaard, M.W.; Tabrizi, S.J.; Roos, R.A.C.; Aziz, N.A. & REGISTRY Investigators European Hu (2017), Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes, Brain 140.
- Waldvogel, H.J.; Munkle, M.; Roon-Mom, W. van; Mohler & Faull, R.L.M. (2017), The immunohistochemical distribution of the GABA(A) receptor alpha(1), alpha(2), alpha(3), beta(2/3) and gamma(2) subunits in the human thalamus, Journal of Chemical Neuroanatomy 82: 39-55.
- Gardiner, S.L.; Belzen, M.J. van; Boogaard, M.W.; Roon-Mom, W.M.C. van; Rozing, M.P.; Hemert, A.M. van; Smit, J.H.; Beekman, A.T.F.; Grootheest, G. van; Schoevers, R.A.; Voshaar, R.C.O.; Comijs, H.C.; Penninx, B.W.J.H.; Mast, R.C. van der; Roos, R.A.C. & Aziz, N.A. (2017), Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression, Translational Psychiatry 7.
- Schut, M.H.; Patassini, S.; Kim, E.H.; Bullock, J.; Waldvogel, H.J.; Faull, R.L.M.; Pepers, B.A.; Dunnen, J.T. den; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2017), Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates, PLoS ONE 12(6).
- Godfrey, C.; Desviat, L.R.; Smedsrod, B.; Pietri-Rouxel, F.; Denti, M.A.; Disterer, P.; Lorain, S.; Nogales-Gadea, G.; Sardone, V.; Anwar, R.; Andaloussi, S. el; Lehto, T.; Khoo, B.; Brolin, C.; Roon-Mom, W.M.C. van; Goyenvalle, A.; Aartsma-Rus, A. & Arechavala-Gomeza, V. (2017), Delivery is key: lessons learnt from developing splice-switching antisense therapies, EMBO Molecular Medicine 9(5): 545-557.
- Hagen, M. van; Piebes, D.G.E.; Leeuw, W.C. de; Vuist, I.M.; Roon-Mom, W.M.C. van; Moerland, P.D. & Verschure, P.J. (2017), The dynamics of early-state transcriptional changes and aggregate formation in a Huntington's disease cell model, BMC Genomics 18.
- Moss, D.J.H.; Flower, M.D.; , K.K. lo; Miller, J.R.C.; Ommen, G.J.B. van; Hoen, P.A.C. 't; Stone, T.C.; Guinee, A.; Langbehn, D.R.; Jones, L.; Plagnol, V.; Roon-Mom, W.M.C. van; Holmans, P. & Tabrizi, S.J. (2017), Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease, Scientific Reports 7.
- Jansen, A.H.P.; Hal, M. van; Kelder, I.C. op den; Meier, R.T.; Ruiter, A.A. de; Schut, M.H.; Smith, D.L.; Grit, C.; Brouwer, N.; Kamphuis, W.; Boddeke, H.W.G.M.; Dunnen, W.F.A. den; Roon, W.M.C. van; Bates, G.P.; Hol, E.M. & Reits, E.A. (2017), Frequency of Nuclear Mutant Huntingtin Inclusion Formation in Neurons and Glia is Cell-Type-Specific, Glia 65(1): 50-61.
- Maiuri, T.; Mocle, A.J.; Hung, C.L.; Xia, J.R.; Roon-Mom, W.M.C. van & Truant, R. (2017), Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex, Human Molecular Genetics 26(2): 395-406.
- Casaca-Carreira, J.; Toonen, L.J.A.; Evers, M.M.; Jahanshahi, A.; van-Roon-Mom, W.M.C. & Temel, Y. (2016), In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease, Biomedicine and Pharmacotherapy 84: 93-96.
- Toonen, L.J.A.; Schmidt, I.; Luijsterburg, M.S.; Attikum, H. van & Roon-Mom, W.M.C. van (2016), Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3, Scientific Reports 6.
- Mastrokolias, A.; Pool, R.; Mina, E.; Hettne, K.M.; Duijn, E. van; Mast, R.C. van der; Ommen, G. van; Hoen, P.A.C. 't; Prehn, C.; Adamski, J. & Roon-Mom, W. van (2016), Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples, Metabolomics 12(8).
- Mina, E.; Roon-Mom, W. van; Hettne, K.; Zwet, E. van; Goeman, J.; Neri, C.; Hoen, P.A.C. 't; Mons, B. & Roos, M. (2016), Common disease signatures from gene expression analysis in Huntington's disease human blood and brain, Orphanet Journal of Rare Diseases 11.
- Mastrokolias, A.; Pool, R.; Mina, E.; Hettne, K.M.; Duijn, E. van; Mast, R.C. van der; Ommen, G. van; Hoen, P.A.C. 't; Prehn, C.; Adamski, J. & Roon-Mom, W. van (2016), Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples, Metabolomics 12(137).
- Mastrokolias, A.; Ariyurek, Y.; Goeman, J.J.; Duijn, E. van; Roos, R.A.C.; Mast, R.C. van der; Ommen, G.B. van; Dunnen, J.T. den; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2015), Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood, European Journal of Human Genetics 23(10): 1349-1356.
- Bomer, N.; Hollander, W. den; Ramos, Y.F.M.; Bos, S.D.; Breggen, R. van der; Lakenberg, N.; Pepers, B.A.; Eeden, A.E. van; Darvishan, A.; Tobi, E.W.; Duijnisveld, B.J.; Akker, E.B. van den; Heijmans, B.T.; Roon-Mom, W.M.C. van; Verbeek, F.J.; Osch, G.J.V.M. van; Nelissen, R.G.H.H.; Slagboom, P.E. & Meulenbelt, I. (2015), Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis, Annals of the Rheumatic Diseases 74(8): 1571-1579.
- Evers, M.M.; Toonen, L.J.A. & Roon-Mom, W.M.C. van (2015), Antisense oligonucleotides in therapy for neurodegenerative disorders, Advanced Drug Delivery Reviews 87: 90-103.
- Evers, M.M.; Schut, M.H.; Pepers, B.A.; Atalar, M.; Belzen, M.J. van; Faull, R.L.M.; Roos, R.A.C. & Roon-Mom, W.M.C. van (2015), Making (anti-) sense out of huntingtin levels in Huntington disease, Molecular Neurodegeneration 10.
- Schut, M.H.; Pepers, B.A.; Klooster, R.; Maarel, S.M. van der; Khatabi, M. el; Verrips, T.; Dunnen, J.T. den; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2015), Selection and characterization of llama single domain antibodies against N-terminal huntingtin, Neurological Sciences 36(3): 429-434.
- Anastasios Mastrokolias1, Yavuz Ariyurek2, Jelle J Goeman3,4, Erik van Duijn5,6, Raymund AC Roos7, Roos C van der Mast5, GertJan B van Ommen1, Johan T den Dunnen1,2 & Peter AC 't Hoen1 and Willeke MC van Roon-Mom1 (2015), Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood, European Journal of Human Genetics 23.
- Kamp, J.A.; Moursel, L.G.; Haan, J.; Terwindt, G.M.; Oberstein, S.A.M.J.L.; Duinen, S.G. van & Roon-Mom, W.M.C. van (2014), Amyloid beta in hereditary cerebral hemorrhage with amyloidosis-Dutch type, Reviews in the Neurosciences 25(5): 641-651.
- Evers, M.M.; Tran, H.D.; Zalachoras, I.; Meijer, O.C.; Dunnen, J.T. den; Ommen, G.J.B. van; Aartsma-Rus, A. & Roon-Mom, W.M.C. van (2014), Preventing Formation of Toxic N-Terminal Huntingtin Fragments Through Antisense Oligonucleotide-Mediated Protein Modification, Nucleic Acid Therapeutics 24(1): 4-12.
- Evers, M.M.; Tran, H.D.; Zalachoras, I.; Pepers, B.A.; Meijer, O.C.; Dunnen, J.T. den; Ommen, G.J.B. van; Aartsma-Rus, A. & Roon-Mom, W.M.C. van (2013), Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon, Neurobiology of Disease 58: 49-56.
- Jahanshahi, A.; Vlamings, R.; Roon-Mom, W.M.C. van; Faull, R.L.M.; Waldvogel, H.J.; Janssen, M.L.F.; Yakkioui, Y.; Zeef, D.H.; Kocabicak, E.; Steinbusch, H.W.M. & Temel, Y. (2013), CHANGES IN BRAINSTEM SEROTONERGIC AND DOPAMINERGIC CELL POPULATIONS IN EXPERIMENTAL AND CLINICAL HUNTINGTON'S DISEASE, Neuroscience 238: 71-81.
- Zalachoras, I.; Grootaers, G.; Weert, L.T.C.M. van; Aubert, Y.; Kreij, S.R. de; Datson, N.A.; Roon-Mom, W.M.C. van; Aartsma-Rus, A. & Meijer, O.C. (2013), Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain, BMC Neuroscience 14.
- van Roon-Mom WM & Aartsma-Rus A (2012), Overview on applications of antisense-mediated exon skipping., Methods in Molecular Biology 867: 79-96.
- Dumas, E.M.; Versluis, M.J.; Bogaard, S.J.A. van den; Osch, M.J.P. van; Hart, E.P.; Roon-Mom, W.M.C. van; Buchem, M.A. van; Webb, A.G.; Grond, J. van der & Roos, R.A.C. (2012), Elevated brain iron is independent from atrophy in Huntington's Disease, NeuroImage 61(3): 558-564.
- Ivliev, A.E.; Hoen, P.A.C. 't; Roon-Mom, W.M.C. van; Peters, D.J.M. & Sergeeva, M.G. (2012), Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues, PLoS ONE 7(4): -.
- Anastasios Mastrokolias, Johan T den Dunnen, GertJan B van Ommen & Peter AC 't Hoen and Willeke MC van Roon-Mom (2012), Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA, BMC Genomics 13(28).
- Mastrokolias, A.; Dunnen, J.T. den; Ommen, G.B. van; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2012), Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA, BMC Genomics 13: -.
- Zalachoras, I.; Evers, M.M.; Roon-Mom, W.M.C. van; Aartsma-Rus, A.M. & Meijer, O.C. (2011), Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain., Frontiers in Molecular Neuroscience 4: 10.
- Aziz, N.A.; Roon-Mom, W.M.C. van & Roos, R.A.C. (2011), CAG repeat size in the normal HTT allele and age of onset in Huntington's disease.
- Evers, M.M.; Pepers, B.A.; Deutekom, J.C.T. van; Mulders, S.A.M.; Dunnen, J.T. den; Aartsma-Rus, A.; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2011), Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide, PLoS ONE 6(9): -.
- Haagen, H.H.H.B.M. van; Hoen, P.A.C. 't; Morree, A. de; Roon-Mom, W.M.C. van; Peters, D.J.M.; Roos, M.; Mons, B.; Ommen, G.J. van & Schuemie, M.J. (2011), In silico discovery and experimental validation of new protein-protein interactions., Proteomics 11(5): 843-53.
- Putten, M. van; Winter, C. de; Roon-Mom, W. van; Ommen, G.J. van; Hoen, P.A.C. 't & Aartsma-Rus, A. (2010), A 3 months mild functional test regime does not affect disease parameters in young mdx mice, Neuromuscular Disorders 20(4): 273-280.
- Pepers BA, Schut MH, Vossen RH, van Ommen GJ, den Dunnen JT & van Roon-Mom WM (2009), Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection., BMC Biotechnology 9: 50.
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