Neuro-D Lab Leiden

Publications

2021

Human induced pluripotent stem cell-based modelling of spinocerebellar ataxias. Marina P. Hommersom, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Bart P.C. van de Warrenburg, Hans van Bokhoven. Accepted Stem Cell Reviews and Reports, May 2021

Antisense oligonucleotide-induced APP splicing modulation as a therapeutic approach for Dutch-type Cerebral Amyloid Angiopathy. Elena Daoutsali, Tsinatkeab T. Hailu, Ronald A.M. Buijsen, Barry Pepers, Linda van der Graaf, Marcel M. Verbeek, Daniel Curtis, Thomas de Vlaam and Willeke van Roon-Mom. Accepted in Nucleic Acid Therapeutics May 2021

Iron loading is a prominent feature of activated microglia in Alzheimer’s disease patients. Boyd Kenkhuis, Antonios Somarakis, Lorraine de Haan, Oleh Dzyubachyk, Marieke E IJsselsteijn, Noel FCC de Miranda, Boudewijn PF Lelieveldt, Jouke Dijkstra, Willeke MC van Roon-Mom, Thomas Höllt, Louise van der Weerd. Accepted in Acta Neuropathologica Communications January 2021

2020

Delivery of Oligonucleotide-Based Therapeutics: Challenges and Opportunities. Suzan M Hammond, Annemieke Aartsma-Rus, Sandra Alves, Sven Even Borgos, Ronald A.M. Buijsen, Rob W. J. Collin, Giuseppina Covello, Michela A. Denti, Lourdes R Desviat, Lucía Echevarría, Camilla Foged, Gisela Gaina, Alejandro Garanto, Aurelie T. Goyenvalle, Magdalena Guzowska, Irina Holodnuka, David R Jones, Sabine Krause, Taavi Lehto, Marisol Montolio, Willeke Van Roon-Mom and Virginia Arechavala-Gomeza. Accepted in EMBO Molecular Medicine November 2020

Statistical method for modelling sequencing data from different technologies in longitudinal studies with application to Huntington Disease. Angga M. Fuady, Willeke M. C. van Roon-Mom, Szymon M. Kiełbasa, Hae-Won Uh, Jeanine J. Houwing-Duistermaat. Accepted in Biometrical Journal October 2020.

Pathological characterization of T2*-weighted MRI contrast in the striatum of Huntington’s disease patients. Marjolein Bulk; Ingrid Hegeman-Kleinn; Boyd Kenkhuis; Ernst Suidgeest; Willeke M.C. van Roon-Mom; Jan Lewerenz; Sjoerd van Duinen; Itamar Ronen; Louise van der Weerd. Accepted for publication in October 2020 in NeuroImage: Clinical.

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. Alejandro Fulgencio-Coviánab, MarÁlvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C.van Roon-Mom, Lourdes R.Desviat, Eva Richard. Stem Cell Research. Online 17 October 2020, doi.org/10.1016/j.scr.2020.102055

2019

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients. van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC.Stem Cell Res. 2019 Oct;40:101560. doi: 10.1016/j.scr.2019.101560. Epub 2019 Aug 28.PMID: 31518905

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease. van der Graaf LM, Gardiner SL, Tok M, Brands T, Boogaard MW, Pepers BA, Eussen B, de Klein A, Aziz NA, Freund C, Buijsen RAM, van Roon-Mom WMC.Stem Cell Res. 2019 Aug;39:101498. doi: 10.1016/j.scr.2019.101498. Epub 2019 Jul 12.PMID: 31326748

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Buijsen RAM, Toonen LJA, Gardiner SL, van Roon-Mom WMC. Neurotherapeutics. 2019 Apr;16(2):263-286. doi: 10.1007/s13311-018-00696-y.PMID: 30607747 

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient. Daoutsali E, Buijsen RAM, van de Pas S, Jong A’, Mikkers H, Brands T, Eussen B, de Klein A, van der Graaf LM, Pepers BA, Freund C, Terwindt GM, Orlova VV, van Roon-Mom WMC.Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14.PMID: 30611017

2018

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset. Gardiner SL, Milanese C, Boogaard MW, Buijsen RAM, Hogenboom M, Roos RAC, Mastroberardino PG, van Roon-Mom WMC, Aziz NA.Neurol Genet. 2018 Oct 4;4(5):e275. doi: 10.1212/NXG.0000000000000275. eCollection 2018 Oct.PMID: 30338295

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model. Toonen LJA, Overzier M, Evers MM, Leon LG, van der Zeeuw SAJ, Mei H, Kielbasa SM, Goeman JJ, Hettne KM, Magnusson OT, Poirel M, Seyer A, ‘t Hoen PAC, van Roon-Mom WMC.Mol Neurodegener. 2018 Jun 22;13(1):31. doi: 10.1186/s13024-018-0261-9.PMID: 29929540

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. Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.PMID: 29656178


Intracerebroventricular Administration of a 2′-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain.
Toonen LJA, Casaca-Carreira J, Pellisé-Tintoré M, Mei H, Temel Y, Jahanshahi A, van Roon-Mom WMC.Nucleic Acid Ther. 2018 Apr;28(2):63-73. doi: 10.1089/nat.2017.0705. Epub 2018 Mar 22.PMID: 29565739

2017

Huntingtin gene repeat size variations affect risk of lifetime depression. Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA.Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1.PMID: 29225330 

Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington’s Disease. Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.Front Mol Neurosci. 2017 Nov 30;10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017.PMID: 29249939 

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. Toonen LJA, Rigo F, van Attikum H, van Roon-Mom WMC.Mol Ther Nucleic Acids. 2017 Sep 15;8:232-242. doi: 10.1016/j.omtn.2017.06.019. Epub 2017 Jun 29.PMID: 28918024

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. Schut MH, Patassini S, Kim EH, Bullock J, Waldvogel HJ, Faull RLM, Pepers BA, den Dunnen JT, van Ommen GB, van Roon-Mom WMC.PLoS One. 2017 Jun 1;12(6):e0178556. doi: 10.1371/journal.pone.0178556. eCollection 2017.PMID: 28570578 

Age of onset in Huntington’s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes. Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA.Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122.PMID: 28549075

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