Article
Clinical Neurology
Ronald A. M. Buijsen, Michel Hu, Maria Saez-Gonzalez, Sofia Notopoulou, Eleni Mina, Winette Koning, Sarah L. Gardiner, Linda M. van der Graaf, Elena Daoutsali, Barry A. Pepers, Hailiang Mei, Vera van Dis, Jean-Philippe Frimat, Arn M. J. M. van den Maagdenberg, Spyros Petrakis, Willeke M. C. van Roon-Mom
Summary: In this study, SCA1-relevant phenotypes were investigated using patient-specific fibroblasts and induced pluripotent stem cells (iPSCs) neuronal cultures. The findings showed mitochondrial dysfunction, protein aggregation, and neuronal morphology changes in SCA1-related cells. Gene expression analysis identified differentially expressed genes associated with synapse organization and neuron projection guidance, providing insights into SCA1 pathogenesis.
MOVEMENT DISORDERS
(2023)
Article
Cell & Tissue Engineering
Mariana Burgos Angulo, Jiajia Yang, Mariana A. Argenziano, Alexander C. Bertalovitz, Maliheh Najari Beidokhti, Thomas McDonald
Summary: Friedreich's Ataxia is an autosomal recessive disorder with a higher incidence in Caucasians, caused by a biallelic GAA expansion in the Frataxin gene. It is characterized by neurodegeneration and hypertrophic cardiomyopathy as the leading cause of death. The induced pluripotent stem cell line derived from an FA patient displays pluripotency and normal karyotype, capable of differentiating into all three germ layers.
STEM CELL RESEARCH
(2021)
Article
Multidisciplinary Sciences
Peter A. Barbuti, Jochen Ohnmacht, Bruno F. R. Santos, Paul M. Antony, Francois Massart, Gerald Cruciani, Claire M. Dording, Lukas Pavelka, Nicolas Casadei, Yong-Jun Kwon, Rejko Kruger
Summary: The study assessed the functional impact of the p.A30P SNCA mutation on dopaminergic neurons derived from a Parkinson's disease patient. Various impairments in neuronal function were identified, providing insights for potential disease-modifying compound screenings and drug discovery strategies in the future.
SCIENTIFIC REPORTS
(2021)
Article
Cell & Tissue Engineering
Damian Hernandez, Stephanie Morgan Schlicht, Maciej Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pebay
Summary: The study achieved genome-editing of an existing iPSC line carrying the APP London mutation into an iPSC line with the corrected pathogenic mutation. The resulting isogenic iPSC line retained pluripotent stem cell characteristics, normal karyotype, pluripotency marker expression, and the ability to differentiate into the three germ-layers in vitro.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Lang He, Xiaobo Han, Huifang Zhao, Shuai Li, Zhao Chen, Chunrong Wang, Shang Wang, Linliu Peng, Weiyue Deng, Zhiyuan Li, Beisha Tang, Hong Jiang
Summary: Urine epithelial cells from a patient with SCA3 were reprogrammed into iPSCs with the ability to differentiate into three germ layers, serving as a valuable tool for disease research and cellular therapy.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Jing Fang, Yanlin Wang, Zhuoya Wang, Huifang Sun, Qi Zhang, Jing Yang, Yutao Liu, Han Liu, Changhe Shi, Yuming Xu, Xinzhong Zhang, Quancheng Kan
Summary: In this study, skin fibroblasts were obtained from a SCA3 patient and iPSCs were successfully constructed, showing stable karyotype, expression of pluripotency markers, and ability to differentiate into all three germ layers. The generated iPSC line may serve as a useful model for identifying SCA3-related pathological mechanisms.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Fen Liu, Yu Fan, Liyuan Fan, Mengjie Li, Qimeng Zhang, Chengyuan Mao, Jun Wu, Shuo Zhang, Zhengwei Hu, Changhe Shi, Yuming Xu
Summary: SCA19 is a rare inherited disease with no effective treatment currently available. Researchers successfully transformed cells from a patient into induced pluripotent stem cells, providing a new direction for exploring the disease mechanism.
STEM CELL RESEARCH
(2021)
Article
Biology
Keiji Kawatani, Toshihiko Nambara, Nobutoshi Nawa, Hidetaka Yoshimatsu, Haruna Kusakabe, Katsuya Hirata, Akira Tanave, Kenta Sumiyama, Kimihiko Banno, Hidetoshi Taniguchi, Hitomi Arahori, Keiichi Ozono, Yasuji Kitabatake
Summary: This study established a panel of isogenic astrocytes derived from induced pluripotent stem cells specific to Down syndrome (DS), demonstrating the dose-dependent effects of DYRK1A and PIGP on proliferation of DS-derived astrocyte precursors. This collection of isogenic cell lines serves as a valuable resource and cellular model for future DS research.
COMMUNICATIONS BIOLOGY
(2021)
Article
Cell & Tissue Engineering
Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding
Summary: Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder caused by GAG deletion in the TOR1A gene. This study generated isogenic control lines using hiPSC technology, providing a valuable resource for DYT1 research.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Yinshi Jin, Guangxian Nan
Summary: In this study, a patient-specific induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a SCA1 patient with CAG repeat mutations in the ATXN1 gene using non-integrating Sendai virus (SeV). The iPSC line exhibited a normal karyotype, expressed pluripotent markers, and demonstrated totipotency and tridermogenesis in vitro. This iPSC line could serve as an excellent in vitro model for studying spinocerebellar ataxia type 1 (SCA1) and could be beneficial for investigating SCA1 pathogenesis and therapeutic intervention strategies.
STEM CELL RESEARCH
(2023)
Article
Cell & Tissue Engineering
Nikita Kozhushko, Aleksandra Beilina, Mark R. Cookson
Summary: This study generated six isogenic controls for studying A53T-related synucleinopathies. These controls were created using CRISPR/Cas9 technology from iPS cell lines derived from two Parkinson's disease patients carrying the SNCAp.A53T variant.
STEM CELL RESEARCH
(2023)
Article
Cell & Tissue Engineering
Vincent Fontaine, Laetitia Duboscq-Bidot, Charlene Jouve, Matthieu Hamlin, Angelique Curjol, Veronique Briand, Philip Janiak, Jean-Sebastien Hulot, Marie-Pierre Pruniaux-Harnist, Philippe Charron, Eric Villard
Summary: In this study, researchers generated an iPSC line from patient's skin fibroblasts carrying a MYH7 R403L mutation for studying HCM pathology, and successfully corrected the mutation using CRISPR/Cas9 editing to create an isogenic control line. Both pluripotent cell lines were efficiently differentiated into beating cardiomyocytes suitable for studying HCM.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Hongyang Wang, Yi Luo, Jin Li, Jing Guan, Shiming Yang, Qiuju Wang
Summary: Genetic correction of the TMC1 c.1253 T > A mutation using CRISPR/Cas9 technology enabled the generation of an isogenic control cell line.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Xiaohui Gong, Zhangqian Zheng, Tong Yang, Huiying Zheng, Xirong Xiao, Nan Jia
Summary: Researchers generated an iPSC cell line from a male patient with EIEE1 and corrected the mutation using CRISPR/Cas9 technology to create an isogenic control, providing an ideal model for studying the pathogenesis of the disease.
STEM CELL RESEARCH
(2022)
Article
Clinical Neurology
Jennifer Faber, Tamara Schaprian, Koyak Berkan, Kathrin Reetz, Marcondes Cavalcante Franca, Thiago Junqueira Ribeiro Rezende, Jiang Hong, Weihua Liao, Bart Warrenburg, Judith Gaalen, Alexandra Durr, Fanny Mochel, Paola Giunti, Hector Garcia-Moreno, Ludger Schoels, Holger Hengel, Matthis Synofzik, Benjamin Bender, Gulin Oz, James Joers, Jereon J. Vries, Jun-Suk Kang, Dagmar Timmann-Braun, Heike Jacobi, Jon Infante, Richard Joules, Sandro Romanzetti, Jorn Diedrichsen, Matthias Schmid, Robin Wolz, Thomas Klockgether
Summary: The study aimed to quantify regional brain volumes and cervical spinal cord areas in spinocerebellar ataxia type 3 patients using MRI, revealing that tissue loss in the brain and spinal cord starts before ataxia onset in early-stage patients. Pontine volume is identified as a potential imaging biomarker candidate for intervention trials aiming to slow the progression of the disease.
MOVEMENT DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Blanca I. Aldana, Yu Zhang, Maria Fog Lihme, Lasse K. Bak, Jorgen E. Nielsen, Bjorn Hoist, Poul Hyttel, Kristine K. Freude, Helle S. Waagepetersen
NEUROCHEMISTRY INTERNATIONAL
(2017)
Review
Biochemical Research Methods
Anna Poon, Yu Zhang, Abinaya Chandrasekaran, Phetcharat Phanthong, Benjamin Schmid, Troels T. Nielsen, Kristine K. Freude
Article
Cell & Tissue Engineering
Yu Zhang, Benjamin Schmid, Nanett K. Nikolaisen, Mikkel A. Rasmussen, Blanca I. Aldana, Mikkel Agger, Kirstine Calloe, Tina C. Stummann, Hjalte M. Larsen, Troels T. Nielsen, Jinrong Huang, Fengping Xu, Xin Liu, Lars Bolund, Morten Meyer, Lasse K. Bak, Helle S. Waagepetersen, Yonglun Luo, Jorgen E. Nielsen, Bjorn Holst, Christian Clausen, Poul Hyttel, Kristine K. Freude
Article
Immunology
Peter Roos, Marina Rode von Essen, Troels Tolstrup Nielsen, Peter Johannsen, Jette Stokholm, Anne Sigaard Bie, Gunhild Waldemar, Anja Hviid Simonsen, Amanda Heslegrave, Henrik Zetterberg, Finn Sellebjerg, Jorgen Erik Nielsen
JOURNAL OF NEUROIMMUNOLOGY
(2018)
Article
Clinical Neurology
Marina R. von Essen, Marie N. N. Hellem, Tua Vinther-Jensen, Cecilie Ammitzboll, Rikke H. Hansen, Lena E. Hjermind, Troels T. Nielsen, Jorgen E. Nielsen, Finn Sellebjerg
ANNALS OF NEUROLOGY
(2020)
Article
Clinical Neurology
Mirolyuba Ilieva, Troels T. Nielsen, Tanja Michel, Stanislava Pankratova
JOURNAL OF NEURAL TRANSMISSION
(2019)
Article
Neurosciences
Jonathan Henry Wardman, Emil Elbaek Henriksen, Adele Gabriele Marthaler, Jorgen Erik Nielsen, Troels Tolstrup Nielsen
Article
Toxicology
Karin Lauschke, Anna Kjerstine Rosenmai, Ina Meiser, Julia Christiane Neubauer, Katharina Schmidt, Mikkel Aabech Rasmussen, Bjorn Holst, Camilla Taxvig, Jenny Katarina Emneus, Anne Marie Vinggaard
ARCHIVES OF TOXICOLOGY
(2020)
Article
Pharmacology & Pharmacy
Lasse Saaby, Josefine Trasborg, Mikkel A. Rasmussen, Bjorn Holst, Birger Brodin
Article
Neurosciences
Niels Henning Skotte, Mahmoud A. Pouladi, Dagmar E. Ehrnhoefer, Katie Huynh, Xiaofan Qiu, Signe Marie Borch Nielsen, Troels Tolstrup Nielsen, Anne Norremolle, Michael R. Hayden
EXPERIMENTAL NEUROLOGY
(2020)
Article
Clinical Neurology
Sara Bech, Annemette Lokkegaard, Troels T. Nielsen, Anne Norremolle, Sabine Gronborg, Lis Hasholt, Gudrun K. Steffensen, Gabor Graehn, Jess H. Olesen, Niels Tommerup, Yuan Mang, Mads Bak, Jorgen E. Nielsen, Hans Eiberg, Lena E. Hjermind
MOVEMENT DISORDERS
(2020)
Article
Neurosciences
Blanca I. Aldana, Yu Zhang, Pia Jensen, Abinaya Chandrasekaran, Sofie K. Christensen, Troels T. Nielsen, Jorgen E. Nielsen, Poul Hyttel, Martin R. Larsen, Helle S. Waagepetersen, Kristine K. Freude
Article
Geriatrics & Gerontology
Anders Toft, Peter Roos, Olli Jaaskelainen, Christian Sandoe Musaeus, Emil Elbaek Henriksen, Peter Johannsen, Troels Tolstrup Nielsen, Sanna-Kaisa Herukka, Anja Hviid Simonsen, Jorgen Erik Nielsen
Summary: This study investigated the clinical utility of serum-NfL in frontotemporal dementia due to CHMP2B mutation. The results showed that serum-NfL levels were significantly increased in symptomatic mutation carriers compared to presymptomatic carriers, with high correlation between serum and CSF measurements. The study suggests that serum-NfL could be a reliable surrogate marker for CSF levels in segregating different clinical groups in familial FTD.
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
(2021)
Meeting Abstract
Clinical Neurology
S. B. W. Bech, A. Lokkegaard, T. T. Nielsen, A. Norremolle, L. Hasholt, Y. Mang, J. E. Nielsen, H. Eiberg, L. E. Hjermind
EUROPEAN JOURNAL OF NEUROLOGY
(2019)
Article
Cell Biology
Dong Li, Jan O. Secher, Morten Juhl, Kaveh Mashayekhi, Troels T. Nielsen, Bjorn Holst, Poul Hyttel, Kristine K. Freude, Vanessa J. Hall