Publications

2020


Lysosomal perturbations in human dopaminergic neurons derived from induced pluripotent stem cells with PARK2 mutation

Okarmus J, Bogetofte H, Schmidt SI, Ryding M, Garcia-Lopez S, Ryan BJ, Martinez-Serrano A, Hyttel P, Meyer M Sci Rep. 2020 Jun 24;10(1):10278
[ PubMed | Paper ]

Modeling neural tube development by differentiation of human embryonic stem cells in a microfluidic WNT gradient

Rifes P, Isaksson M, Rathore GS, Aldrin-Kirk P, Møller OK, Barzaghi G, Lee J, Egerod KL, Rausch DM, Parmar M, Pers TH, Laurell T, Kirkeby A Nature Biotechnology 2020, e-pub
[ Paper ]

Massively parallel quantification of CRISPR editing in cells by TRAP-seq enables better design of Cas9, ABE, CBE gRNAs of high efficiency and accuracy

Xiang X, Qu K, Liang X, Pan X, Wang J, Han P, Dong Z, Liu L, Zhong J, Ma T, Wang Y, Yu J, Zhao X, Li S, Xu Z, Wang J, Zhang X, Jiang H, Xu F, Zou L, Teng H, Liu X, Xu X, Wang J, Yang H, Bolund L, Church GM, Lin L, Luo Y bioRxiv 2020.05.20.10361
[ Paper ]

2019


Double-strand breaks in ribosomal RNA genes activate a distinct signaling and chromatin response to facilitate nucleolar restructuring and repair

Korsholm LM, Gal Z, Lin L, Quevedo O, Ahmad DA, Dulina E, Luo Y, Bartek J, Larsen DH Nucleic Acids Res. 2019 Sep 5;47(15):8019-8035
[ PubMed | Paper ]

Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene

Frederiksen HR, Holst B, Mau-Holzmann UA, Freude K, Schmid B Stem Cell Research 2019, 35:101403
[ Paper ]

Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line

Schmid B, Prehn KR, Nimsanor N, Garcia BIA, Poulsen U, Jørring I, Rasmussen MA, Clausen C, Mau-Holzmann UA, Ramakrishna S, Muddashetty R, Steeg R, Bruce K, Mackintosh P, Ebneth A, Holst B, Cabrera-Socorro A Stem Cell Research 2019, 34:101349
[ Paper ]

Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene

Frederiksen HR, Holst B, Ramakrishna S, Muddashetty R, Schmid B, Freude K Stem Cell Research 2019, 34:101368
[ Paper ]

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Chumarina M, Russ K, Azevedo C, Heuer A, Pihl M, Collin A, Frostner EA, Elmer E, Hyttel P, Cappelletti G, Zini M, Goldwurm S, Roybon L Acta Neuropathol Commun. 2019 Dec 16;7(1):208
[ PubMed | Paper ]

Functional Evaluation of CRISPR Activity by the Dual-Fluorescent Surrogate System: C-Check

Lin L, Luo Y Methods in Molecular Biology 2019, :67-77
[ Paper ]

Rapid and Efficient Gene Deletion by CRISPR/Cas9

Neldeborg S, Lin L, Stougaard M, Luo Y Methods in Molecular Biology 2019, :233-247
[ Paper ]

Genetic Protection Modifications: Moving Beyond the Binary Distinction Between Therapy and Enhancement for Human Genome Editing

Mikkelsen RB, Frederiksen HRS, Gjerris M, Holst B, Hyttel P, Luo Y, Freude K, Sandøe P The CRISPR Journal 2019, 2(6):362-369
[ Paper ]

Broad consent for biobanks is best – provided it is also deep

Mikkelsen RB, Gjerris M, Waldemar G, Sandoe P BMC Med Ethics. 2019 Oct 15;20(1):71
[ PubMed | Paper ]

Genetic Protection Modifications: Moving Beyond the Binary Distinction Between Therapy and Enhancement for Human Genome Editing

Mikkelsen RB, Frederiksen HRS, Gjerris M, Holst B, Hyttel P, Luo Y, Freude K, Sandoe P CRISPR J. 2019 Dec;2(6):362-369
[ PubMed | Paper ]

Perturbations in RhoA signalling cause altered migration and impaired neuritogenesis in human iPSC-derived neural cells with PARK2 mutation

Bogetofte H, Jensen P, Okarmus J, Schmidt SI, Agger M, Ryding M, Nørregaard P, Fenger C, Zeng X, Graakjær J, Ryan BJ, Wade-Martins R, Larsen MR, Meyer M Neurobiology of Disease 2019, 132:104581
[ Paper ]

PARK2 Mutation Causes Metabolic Disturbances and Impaired Survival of Human iPSC-Derived Neurons

Bogetofte H, Jensen P, Ryding M, Schmidt SI, Okarmus J, Ritter L, Worm CS, Hohnholt MC, Azevedo C, Roybon L, Bak LK, Waagepetersen H, Ryan BJ, Wade-Martins R, Larsen MR, Meyer M Front Cell Neurosci. 2019 Jul 5;13:297. eCollection 2019
[ PubMed | Paper ]

2018


CRISPR-C: circularization of genes and chromosome by CRISPR in human cells

Moller HD, Lin L, Xiang X, Petersen TS, Huang J, Yang L, Kjeldsen E, Jensen UB, Zhang X, Liu X, Xu X, Wang J, Yang H, Church GM, Bolund L, Regenberg B, Luo Y Nucleic Acids Res. 2018 Dec 14;46(22):e131
[ PubMed | Paper ]

Genome-wide determination of on-target and off-target characteristics for RNA-guided DNA methylation by dCas9 methyltransferases

Lin L, Liu Y, Xu F, Huang J, Daugaard TF, Petersen TS, Hansen B, Ye L, Zhou Q, Fang F, Yang L, Li S, Floe L, Jensen KT, Shrock E, Chen F, Yang H, Wang J, Liu X, Xu X, Bolund L, Nielsen AL, Luo Y Gigascience. 2018 Mar 1;7(3):1-19
[ PubMed | Paper ]

Simple method for assembly of CRISPR synergistic activation mediator gRNA expression array

Vad-Nielsen J, Nielsen AL, Luo Y Journal of Biotechnology 2018, 274:54-57
[ Paper ]

Central and Peripheral Nervous System Progenitors Derived from Human Pluripotent Stem Cells Reveal a Unique Temporal and Cell-Type Specific Expression of PMCAs

Chen M, Laursen SH, Habekost M, Knudsen CH, Buchholdt SH, Huang J, Xu F, Liu X, Bolund L, Luo Y, Nissen P, Febbraro F, Denham M Front Cell Dev Biol. 2018 Feb 6;6:5. eCollection 2018
[ PubMed | Paper ]

Induced pluripotent stem cells revolutionise research of neurodegenerative diseases

Schmidt SI, Knudsen MJ, Barnkob HB, Meyer M Ugeskr Laeger. 2016 Jul 18;178(29)

Books, Book Chapters


Human Induced Pluripotent Stem Cells and their Derivatives for Disease Modeling and Therapeutic Applications in Alzheimer’s Disease

Pires C, Hall , Freude KK Human Induced Pluripotent Stem Cells and their Derivatives for Disease Modeling and Therapeutic Applications in Alzheimer’s Disease In Alzheimer's Disease. , SMgroup 2016
[ Chapter ]

2017


Human Astrocytes Transfer Aggregated Alpha-Synuclein via Tunneling Nanotubes

Rostami J, Holmqvist S, Lindstrom V, Sigvardson J, Westermark GT, Ingelsson M, Bergstrom J, Roybon L, Erlandsson A J Neurosci. 2017 Dec 6;37(49):11835-11853. Epub 2017 Oct 31
[ PubMed | Paper ]

Communicating Identifiability Risks to Biobank Donors

KASPERBAUER T, GJERRIS M, WALDEMAR G, SANDØE P Cambridge Quarterly of Healthcare Ethics 2017, 27(1):123-136
[ Paper ]

Neurons derived from sporadic Alzheimer’s disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation

Ochalek A, Mihalik B, Avci HX, Chandrasekaran A, Teglasi A, Bock I, Giudice ML, Tancos Z, Molnar K, Laszlo L, Nielsen JE, Holst B, Freude K, Hyttel P, Kobolak J, Dinnyes A Alzheimers Res Ther. 2017 Dec 1;9(1):90
[ PubMed | Paper ]

Generation of high-purity human ventral midbrain dopaminergic progenitors for in vitro maturation and intracerebral transplantation

Nolbrant S, Heuer A, Parmar M, Kirkeby A Nature Protocols 2017, 12(9):1962-1979
[ Paper ]

Reporting on methods to generate and purify rodent and human oligodendrocytes from different sources

Djelloul M, Azevedo C, Pomeshchik Y, Hammarberg A, Roybon L Stem Cell Research 2017, 20:58-66
[ Paper ]

Chromatin accessibility and guide sequence secondary structure affect CRISPR-Cas9 gene editing efficiency

Jensen KT, Fløe L, Petersen TS, Huang J, Xu F, Bolund L, Luo Y, Lin L FEBS Letters 2017, 591(13):1892-1901
[ Paper ]

Modeling neurodegenerative diseases with patient-derived induced pluripotent cells: Possibilities and challenges

Poon A, Zhang Y, Chandrasekaran A, Phanthong P, Schmid B, Nielsen TT, Freude KK New Biotechnology 2017, 39:190-198
[ Paper ]

RNA-Guided Activation of Pluripotency Genes in Human Fibroblasts

Xiong K, Zhou Y, Blichfeld KA, Hyttel P, Bolund L, Freude KK, Luo Y Cellular Reprogramming 2017, 19(3):189-198
[ Paper ]

Characterization of energy and neurotransmitter metabolism in cortical glutamatergic neurons derived from human induced pluripotent stem cells: A novel approach to study metabolism in human neurons

Aldana BI, Zhang Y, Lihme MF, Bak LK, Nielsen JE, Holst B, Hyttel P, Freude KK, Waagepetersen HS Neurochemistry International 2017, 106:48-61
[ Paper ]

Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B

FReJA Consortium Stem Cell Reports. 2017 Mar 14;8(3):648-658. Epub 2017 Feb 16
[ PubMed | Paper ]

Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency

Zhou Y, Al-Saaidi RA, Fernandez-Guerra P, Freude KK, Olsen RKJ, Jensen UB, Gregersen N, Hyttel P, Bolund L, Aagaard L, Bross P, Luo Y Stem Cells and Development 2017, 26(3):166-176
[ Paper ]

2016


Creation of a library of induced pluripotent stem cells from Parkinsonian patients

Holmqvist S, Lehtonen S, Chumarina M, Puttonen KA, Azevedo C, Lebedeva O, Ruponen M, Oksanen M, Djelloul M, Collin A, Goldwurm S, Meyer M, Lagarkova M, Kiselev S, Koistinaho J, Roybon L NPJ Parkinsons Dis. 2016 Jun 2;2:16009. eCollection 2016
[ PubMed | Paper ]

Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor N, Kitiyanant N, Poulsen U, Rasmussen MA, Clausen C, Mau-Holzmann UA, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B Stem Cell Research 2016, 17(3):556-559
[ Paper ]

Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia

Nimsanor N, Jørring I, Rasmussen MA, Clausen C, Mau-Holzmann UA, Kitiyanant N, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B Stem Cell Research 2016, 17(3):564-567
[ Paper ]

Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor N, Poulsen U, Rasmussen MA, Clausen C, Mau-Holzmann UA, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B Stem Cell Research 2016, 17(3):576-579
[ Paper ]

Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor N, Poulsen U, Rasmussen MA, Clausen C, Mau-Holzmann UA, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B Stem Cell Research 2016, 17(3):600-602
[ Paper ]

Generation of induced pluripotent stem cells (iPSCs) stably expressing CRISPR-based synergistic activation mediator (SAM)

Xiong K, Zhou Y, Hyttel P, Bolund L, Freude KK, Luo Y Stem Cell Research 2016, 17(3):665-669
[ Paper ]

Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

Hansen SK, Stummann TC, Borland H, Hasholt LF, Tümer Z, Nielsen JE, Rasmussen MA, Nielsen TT, Daechsel JC, Fog K, Hyttel P Stem Cell Research 2016, 17(2):306-317
[ Paper ]

Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1

Poon A, Li T, Pires C, Nielsen TT, Nielsen JE, Holst B, Dinnyes A, Hyttel P, Freude KK Stem Cell Research 2016, 17(3):470-473
[ Paper ]

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

Poon A, Schmid B, Pires C, Nielsen TT, Hjermind LE, Nielsen JE, Holst B, Hyttel P, Freude KK Stem Cell Research 2016, 17(3):466-469
[ Paper ]

Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

Pires C, Schmid B, Petræus C, Poon A, Nimsanor N, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Hyttel P, Freude KK Stem Cell Research 2016, 17(2):285-288
[ Paper ]

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Hansen SK, Borland H, Hasholt LF, Tümer Z, Nielsen JE, Rasmussen MA, Nielsen TT, Stummann TC, Fog K, Hyttel P Stem Cell Research 2016, 16(3):553-556
[ Paper ]

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Hansen SK, Borland H, Hasholt LF, Tümer Z, Nielsen JE, Rasmussen MA, Nielsen TT, Stummann TC, Fog K, Hyttel P Stem Cell Research 2016, 16(3):589-592
[ Paper ]

The positional identity of iPSC-derived neural progenitor cells along the anterior-posterior axis is controlled in a dosage-dependent manner by bFGF and EGF

Zhou S, Ochalek A, Szczesna K, Avci HX, Kobolák J, Varga E, Rasmussen M, Holst B, Cirera S, Hyttel P, Freude KK, Dinnyés A Differentiation 2016, 92(4):183-194
[ Paper ]

Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B

Zhang Y, Schmid B, Nielsen TT, Nielsen JE, Clausen C, Hyttel P, Holst B, Freude KK Stem Cell Research 2016, 17(1):151-153
[ Paper ]

Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

Zhang Y, Schmid B, Nielsen TT, Nielsen JE, Clausen C, Hyttel P, Holst B, Freude KK Stem Cell Research 2016, 17(1):148-150
[ Paper ]

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1

Tubsuwan A, Pires C, Rasmussen MA, Schmid B, Nielsen JE, Hjermind LE, Hall V, Nielsen TT, Waldemar G, Hyttel P, Clausen C, Kitiyanant N, Freude KK, Holst B Stem Cell Research 2016, 16(1):110-112
[ Paper ]

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

Li T, Pires C, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Dinnyes A, Hyttel P, Freude KK Stem Cell Research 2016, 16(2):229-232
[ Paper ]

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

Li T, Pires C, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Dinnyes A, Holst B, Hyttel P, Freude KK Stem Cell Research 2016, 16(2):334-337
[ Paper ]

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266

Marthaler AG, Tubsuwan A, Schmid B, Poulsen UB, Engelbrecht AF, Mau-Holzmann UA, Hyttel P, Nielsen TT, Nielsen JE, Holst B Stem Cell Research 2016, 16(1):202-205
[ Paper ]

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Marthaler AG, Schmid B, Tubsuwan A, Poulsen UB, Hyttel P, Nielsen TT, Nielsen JE, Holst B Stem Cell Research 2016, 16(1):199-201
[ Paper ]

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

Marthaler AG, Schmid B, Tubsuwan A, Poulsen UB, Engelbrecht AF, Mau-Holzmann UA, Hyttel P, Nielsen JE, Nielsen TT, Holst B Stem Cell Research 2016, 16(1):180-183
[ Paper ]

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266

Marthaler AG, Schmid B, Tubsuwan A, Poulsen UB, Hyttel P, Nielsen TT, Nielsen JE, Holst B Stem Cell Research 2016, 16(1):166-169
[ Paper ]

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196

Marthaler AG, Schmid B, Tubsuwan A, Poulsen UB, Engelbrecht AF, Mau-Holzmann UA, Hyttel P, Nielsen JE, Nielsen TT, Holst B Stem Cell Research 2016, 16(1):162-165
[ Paper ]

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

Marthaler AG, Tubsuwan A, Schmid B, Poulsen UB, Hyttel P, Nielsen JE, Nielsen TT, Holst B Stem Cell Research 2016, 16(1):159-161
[ Paper ]

Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia

Rasmussen MA, Hjermind LE, Hasholt LF, Waldemar G, Nielsen JE, Clausen C, Hyttel P, Holst B Stem Cell Research 2016, 16(1):105-109
[ Paper ]

Neurosphere Based Differentiation of Human iPSC Improves Astrocyte Differentiation

Zhou S, Szczesna K, Ochalek A, Kobolak J, Varga E, Nemes C, Chandrasekaran A, Rasmussen M, Cirera S, Hyttel P, Dinnyes A, Freude KK, Avci HX Stem Cells Int. 2016;2016:4937689. Epub 2015 Dec 21
[ PubMed | Paper ]

Genetically modified pig models for neurodegenerative disorders

Holm IE, Alstrup AK, Luo Y J Pathol. 2016 Jan;238(2):267-87. Epub 2015 Nov 28
[ PubMed | Paper ]

2015


Impaired APP activity and altered Tau splicing in embryonic stem cell-derived astrocytes obtained from an APPsw transgenic minipig

Hall VJ, Lindblad MM, Jakobsen JE, Gunnarsson A, Schmidt M, Rasmussen MA, Volke D, Zuchner T, Hyttel P Dis Model Mech. 2015 Oct 1;8(10):1265-78. Epub 2015 Aug 6
[ PubMed | Paper ]

Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

Djelloul M, Holmqvist S, Boza-Serrano A, Azevedo C, Yeung MS, Goldwurm S, Frisen J, Deierborg T, Roybon L Stem Cell Reports. 2015 Aug 11;5(2):174-84. Epub 2015 Jul 30
[ PubMed | Paper ]