Article
Clinical Neurology
Kelly G. Gwathmey, Philippe Corcia, Chris J. McDermott, Angela Genge, Stefan Sennfalt, Mamede de Carvalho, Caroline Ingre
Summary: ALS is a fatal neurodegenerative disease with a long delay in diagnosis. This delay is influenced by lack of recognition and misdiagnosis by general practitioners, as well as patient factors such as illness behavior and site of symptom onset.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Ji He, Jiayu Fu, Wei Zhao, Chuan Ren, Ping Liu, Lu Chen, Dan Li, Lu Tang, Lequn Zhou, Yixuan Zhang, Xinran Ma, Gaoqi Zhang, Nan Li, Dongsheng Fan
Summary: This study found a significant increase in the prevalence and degree of hypermetabolism in ALS patients compared to matched controls in China. The metabolic index was closely associated with disease progression and body composition, serving as an independent prognostic indicator for worse survival in ALS.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Philippe Fayemendy, Benoit Marin, Anais Labrunie, Yves Boirie, Stephane Walrand, Najate Achamrah, Moise Coeffier, Pierre-Marie Preux, Geraldine Lautrette, Jean-Claude Desport, Philippe Couratier, Pierre Jesus
Summary: The study confirmed the presence of hypermetabolism (HM) in ALS patients, with more than half of the patients affected by HM. HM was strongly and positively associated with ALS, indicating a frequent metabolic deterioration during the disease. Identifying HM can facilitate better adaptation of patients' nutritional intake.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Review
Nutrition & Dietetics
Emanuele D'Amico, Giuseppe Grosso, Jeri W. Nieves, Aurora Zanghi, Pam Factor-Litvak, Hiroshi Mitsumoto
Summary: ALS is a devastating neurodegenerative disease that affects motor neurons and leads to muscle paralysis and respiratory failure. Metabolic abnormalities and nutritional factors may play a role in disease progression. Nutritional assessment and maintenance of weight are important for ALS patients, potentially influencing disease progression.
Article
Clinical Neurology
C. Appleby-Mallinder, E. Schaber, J. Kirby, P. J. Shaw, J. Cooper-Knock, P. R. Heath, J. R. Highley
Summary: The study revealed higher levels of 5mC and 5hmC in lower motor neurones (LMNs) of the spinal cord in ALS patients. LMNs with TDP43 pathology showed lower levels of nuclear 5mC and 5hmC, suggesting a particular impact on RNA metabolism.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Arpan R. Mehta, Jenna M. Gregory, Owen Dando, Roderick N. Carter, Karen Burr, Jyoti Nanda, David Story, Karina McDade, Colin Smith, Nicholas M. Morton, Don J. Mahad, Giles E. Hardingham, Siddharthan Chandran, Bhuvaneish T. Selvaraj
Summary: The study found that axonal dysfunction in C9orf72-ALS patients is associated with shorter axons, impaired mitochondrial transport, and altered mitochondrial bioenergetics, indicating that mitochondrial dysfunction is a key factor in axonal dysfunction. Increasing mitochondrial biogenesis through genetic manipulation can correct the bioenergetic deficit and rescue axonal length and transport phenotypes.
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Gavin McCluskey, William Duddy, Stephen Haffey, Karen Morrison, Colette Donaghy, Stephanie Duguez
Summary: The study evaluated the incidence, prevalence, and survival trends of motor neurone disease (MND) in Northern Ireland from 2015 to 2019. The incidence and prevalence rates of MND have increased over the past 10 years, in line with trends in other European countries. Improved survival was associated with younger age at onset, longer time to diagnosis, attendance at a regional MND clinic, and outpatient presentation to a Neurology Department.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Niccolo Candelise, Illari Salvatori, Silvia Scaricamazza, Valentina Nesci, Henri Zenuni, Alberto Ferri, Cristiana Valle
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons. Despite efforts to understand its pathogenesis, ALS remains obscure and lacks effective therapies. Recent studies have highlighted the central role of mitochondrial dysfunction in ALS, leading to impaired energy metabolism.
Article
Nutrition & Dietetics
Sean White, Nicolo Zarotti, Daniel Beever, Mike Bradburn, Paul Norman, Elizabeth Coates, Theocharis Stavroulakis, David White, Alexander McGeachan, Isobel Williams, Gemma Hackney, Vanessa Halliday, Christopher McDermott
Summary: In the UK, dietitians face many challenges in the nutritional management of patients with Amyotrophic Lateral Sclerosis (ALS). While the importance of early nutritional assessment is recognized, the timeliness of dietetic input and ongoing monitoring of nutritional status in ALS care might not be ideal. Dietitians report using energy requirement predictive equations and setting weight goals that may not promote positive outcomes.
JOURNAL OF HUMAN NUTRITION AND DIETETICS
(2021)
Review
Neurosciences
Joanne L. Sharpe, Nikki S. Harper, Duncan R. Garner, Ryan J. H. West
Summary: An intronic hexanucleotide (GGGGCC) expansion in the C9orf72 gene is the most common genetic cause of FTD and ALS, and Drosophila models have played a key role in understanding the gain of function toxicity mechanism related to C9orf72.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Review
Audiology & Speech-Language Pathology
Rebecca Francis, Stacie Attrill, Sebastian Doeltgen
Summary: This study conducted a scoping review to explore the impact of cognitive impairment on oropharyngeal swallowing in individuals with ALS. It was found that there is a lack of research on the interaction between cognitive impairment and swallowing function in ALS patients, which could have implications for swallowing management.
INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
(2021)
Article
Medicine, General & Internal
Robert D. Henderson, Jan M. Agosti, Pamela A. McCombe, Kathryn Thorpe, Susan Heggie, Saman Heshmat, Mark W. Appleby, Brian W. Ziegelaar, David T. Crowe, Garry L. Redlich
Summary: The study aimed to demonstrate the safety and tolerability of monoclonal antibody IC14 in ALS patients, showing rapid and sustained target saturation of monocyte CD14 receptors, but no significant changes in disease status and biomarkers following a single cycle of treatment.
Review
Clinical Neurology
Simon J. Guillot, Matei Bolborea, Luc Dupuis
Summary: Hypothalamic changes and genetic mutations impacting metabolic pathways have been linked to energy metabolism dysfunction in ALS. Slowing weight loss through high caloric diets shows promise as a therapeutic strategy, with potential to improve survival in some patients. Further research is needed to enhance therapeutic approaches and identify the ALS patient population that would benefit most from these strategies.
CURRENT OPINION IN NEUROLOGY
(2021)
Article
Food Science & Technology
Salvatore D'Antona, Martina Caramenti, Danilo Porro, Isabella Castiglioni, Claudia Cava
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal disease linked to motor neurons degeneration, with diet components like oxidative stress potentially influencing its onset. Some diets with antioxidant and anti-inflammatory properties may reduce the risk of ALS, but current data remains controversial.
Article
Clinical Neurology
Kailin Xia, Simon Witzel, Christina Witzel, Veronika Klose, Dongsheng Fan, Albert C. Ludolph, Johannes Dorst
Summary: This study identified distinct metabolic profiles in presymptomatic ALS gene carriers, which might be associated with disease progression in the symptomatic phase.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Restuadi Restuadi, Fleur C. Garton, Beben Benyamin, Tian Lin, Kelly L. Williams, Anna Vinkhuyzen, Wouter van Rheenen, Zhihong Zhu, Nigel G. Laing, Karen A. Mather, Perminder S. Sachdev, Shyuan T. Ngo, Frederik J. Steyn, Leanne Wallace, Anjali K. Henders, Peter M. Visscher, Merrilee Needham, Susan Mathers, Garth Nicholson, Dominic B. Rowe, Robert D. Henderson, Pamela A. McCombe, Roger Pamphlett, Ian P. Blair, Naomi R. Wray, Allan F. McRae
Summary: Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease with genetic and non-genetic risk factors. Recent studies have found genetic correlations between ALS and traits such as schizophrenia, cognitive performance, and educational attainment, and using multi-trait genetic predictors can improve prediction accuracy in case-control studies.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
R. B. Mcgill, F. J. Steyn, S. T. Ngo, K. A. Thorpe, S. Heggie, R. D. Henderson, P. A. Mccombe, T. M. Woodruff
Summary: This study investigated immune marker changes in ALS patients over 16 months and found that CD14 expression on monocytes increased with disease duration and decreased ALSFRS-R score. HLA-DR expression on monocytes also increased with disease severity/duration, while CD16 expression remained unchanged. Patients had reduced non-classical monocytes and an increased classical to non-classical monocyte ratio over time, indicating potential immunological changes. These findings suggest that monocytes may play a role in ALS pathology and could serve as therapeutic targets for immunomodulatory therapies in clinical trials.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Correction
Genetics & Heredity
Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J. F. A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilis Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper-Knock, Bradley N. Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazli Basak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D'Alfonso, Gianni Soraru, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chio, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Stephanie Millecamps, Vincent Meininger, Francois Salachas, Jesus S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-Garcia, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, David Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, Christine A. M. Payan, Safa Saker-Delye, Nicholas W. Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Stephan Ripke, Alice Braun, Julia Kraft, David C. Whiteman, Catherine M. Olsen, Andre G. Uitterlinden, Albert Hofman, Marcella Rietschel, Sven Cichon, Markus M. Nothen, Philippe Amouyel, Giancarlo Comi, Nilo Riva, Christian Lunetta, Francesca Gerardi, Maria Sofia Cotelli, Fabrizio Rinaldi, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Mauro Ceroni, Luca Diamanti, Carlo Ferrarese, Lucio Tremolizzo, Maria Luisa Delodovici, Giorgio Bono, Umberto Manera, Rosario Vasta, Alessandro Bombaci, Federico Casale, Giuseppe Fuda, Paolina Salamone, Barbara Iazzolino, Laura Peotta, Paolo Cugnasco, Giovanni De Marco, Maria Claudia Torrieri, Francesca Palumbo, Salvatore Gallone, Marco Barberis, Luca Sbaiz, Salvatore Gentile, Alessandro Mauro, Letizia Mazzini, Fabiola De Marchi, Lucia Corrado, Sandra D'Alfonso, Antonio Bertolotto, Maurizio Gionco, Daniela Leotta, Enrico Odddenino, Daniele Imperiale, Roberto Cavallo, Pietro Pignatta, Marco De Mattei, Claudio Geda, Diego Maria Papurello, Graziano Gusmaroli, Cristoforo Comi, Carmelo Labate, Luigi Ruiz, Delfina Ferrandi, Eugenia Rota, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Paolo Ghiglione, Nicola Launaro, Michele Dotta, Alessia Di Sapio, Guido Giardini, Cinzia Tiloca, Silvia Peverelli, Franco Taroni, Viviana Pensato, Barbara Castellotti, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Lucia Corrado, Letizia Mazzini, Flavia Raggi, Costanza Simoncini, Annalisa Lo Gerfo, Maurizio Inghilleri, Alessandra Ferlini, Isabella L. Simone, Bruno Passarella, Vito Guerra, Stefano Zoccolella, Cecilia Nozzoli, Ciro Mundi, Maurizio Leone, Michele Zarrelli, Filippo Tamma, Francesco Valluzzi, Gianluigi Calabrese, Giovanni Boero, Augusto Rini, Bryan J. Traynor, Andrew B. Singleton, Miguel Mitne Neto, Ruben J. Cauchi, Roel A. Ophoff, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. van Deerlin, Julian Grosskreutz, Annekathrin Roediger, Nayana Gaur, Alexander Joerk, Tabea Barthel, Erik Theele, Benjamin Ilse, Beatrice Stubendorff, Otto W. Witte, Robert Steinbach, Christian A. Huebner, Caroline Graff, Lev Brylev, Vera Fominykh, Vera Demeshonok, Anastasia Ataulina, Boris Rogelj, Blaz Koritnik, Janez Zidar, Metka Ravnik-Glavac, Damjan Glavac, Zorica Stevic, Vivian Drory, Monica Povedano, Ian P. Blair, Matthew C. Kiernan, Beben Benyamin, Robert D. Henderson, Sarah Furlong, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth A. Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Karen A. Mather, Perminder S. Sachdev, Anjali K. Henders, Leanne Wallace, Mamede de Carvalho, Susana Pinto, Susanne Petri, Markus Weber, Guy A. Rouleau, Vincenzo Silani, Charles J. Curtis, Gerome Breen, Jonathan D. Glass, Robert H. Brown, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Ewout J. N. Groen, Michael A. van Es, R. Jeroen Pasterkamp, Dongsheng Fan, Fleur C. Garton, Allan F. McRae, George Davey Smith, Tom R. Gaunt, Michael A. Eberle, Jonathan Mill, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Naomi R. Wray, Ellen Tsai, Heiko Runz, Lude Franke, Ammar Al-Chalabi, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink
Article
Cell Biology
Paul J. Hop, Ramona A. J. Zwamborn, Eilis Hannon, Gemma L. Shireby, Marta F. Nabais, Emma M. Walker, Wouter van Rheenen, Joke J. F. A. van Vugt, Annelot M. Dekker, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Matthieu Moisse, Denis Baird, Ahmad Al Khleifat, Alfredo Iacoangeli, Nicola Ticozzi, Antonia Ratti, Jonathan Cooper-Knock, Karen E. Morrison, Pamela J. Shaw, A. Nazli Basak, Adriano Chio, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Maurizio Grassano, Marc Gotkine, Yossef Lerner, Michal Zabari, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Jesus S. Mora Pardina, Teresa Salas, Patrick Dion, Jay P. Ross, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Garth Nicholson, Dominic B. Rowe, Roger Pamphlett, Karen A. Mather, Perminder S. Sachdev, Sarah Furlong, Fleur C. Garton, Anjali K. Henders, Tian Lin, Shyuan T. Ngo, Frederik J. Steyn, Leanne Wallace, Kelly L. Williams, Miguel Mitne Neto, Ruben J. Cauchi, Ian P. Blair, Matthew C. Kiernan, Vivian Drory, Monica Povedano, Mamede de Carvalho, Susana Pinto, Markus Weber, Guy A. Rouleau, Vincenzo Silani, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Allan F. McRae, Michael A. van Es, R. Jeroen Pasterkamp, Naomi R. Wray, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Ellen Tsai, Heiko Runz, Ammar Al-Chalabi, Leonard H. van den Berg, Philip Van Damme, Jonathan Mill, Jan H. Veldink
Summary: This study conducted a blood-based epigenome-wide association study meta-analysis and identified differentially methylated positions (DMPs) and genes associated with ALS. The study also found independent associations between ALS and high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake, with cholesterol biosynthesis potentially causally related to ALS. Additionally, DNA methylation at several DMPs and blood cell proportion estimates were associated with survival rate in patients.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Restuadi Restuadi, Frederik J. Steyn, Edor Kabashi, Shyuan T. Ngo, Fei-Fei Cheng, Marta F. Nabais, Mike J. Thompson, Ting Qi, Yang Wu, Anjali K. Henders, Leanne Wallace, Chris R. Bye, Bradley J. Turner, Laura Ziser, Susan Mathers, Pamela A. McCombe, Merrilee Needham, David Schultz, Matthew C. Kiernan, Wouter van Rheenen, Leonard H. van den Berg, Jan H. Veldink, Roel Ophoff, Alexander Gusev, Noah Zaitlen, Allan F. McRae, Robert D. Henderson, Naomi R. Wray, Jean Giacomotto, Fleur C. Garton
Summary: This study supports GPX3 as the leading ALS risk gene in this locus, with more data needed to confirm or reject the role of TNIP1. The results have implications for understanding disease mechanisms and identifying new therapeutic approaches. Few previous in-depth investigations of risk loci in ALS exist and a similar approach could be applied to future expected GWAS findings.
Article
Clinical Neurology
Cory J. Holdom, Shyuan T. Ngo, Pamela A. McCombe, Robert D. Henderson, Frederik J. Steyn
Summary: Hyaluronan may serve as a predictive marker for functional decline in patients with ALS, positively correlated with disease progression and survival. Longitudinal studies are needed to further explore its prognostic value and improve understanding of extracellular matrix components specific to ALS pathophysiology.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Review
Clinical Neurology
R. J. Nona, J. M. Greer, R. D. Henderson, P. A. McCombe
Summary: This systematic review and meta-analysis examines the association between HLA and ALS. The study finds three alleles of interest, but does not confirm all previously reported associations. The study also identifies methodological limitations and calls for further modern research to validate the results.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Neurosciences
Qiao Ding, Kaamini Kesavan, Kah Meng Lee, Elyse Wimberger, Thomas Robertson, Melinder Gill, Dominique Power, Jeryn Chang, Atefeh T. Fard, Jessica C. Mar, Robert D. Henderson, Susan Heggie, Pamela A. McCombe, Rosalind L. Jeffree, Michael J. Colditz, Massimo A. Hilliard, Dominic C. H. Ng, Frederik J. Steyn, William D. Phillips, Ernst J. Wolvetang, Shyuan T. Ngo, Peter G. Noakes
Summary: A defect in the n-agrin-LRP4-MuSK signaling pathway has been identified in muscle from MND patients for the first time. This signaling pathway plays a crucial role in maintaining the stability of the neuromuscular junction. These findings provide a potential therapeutic target for prolonging muscle function in MND patients.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Clinical Neurology
Jeryn Chang, Thomas B. Shaw, Cory J. Holdom, Pamela A. McCombe, Robert D. Henderson, Jurgen Fripp, Markus Barth, Christine C. Guo, Shyuan T. Ngo, Frederik J. Steyn
Summary: This study found that lower hypothalamic volume is associated with lower and higher BMI in ALS patients, unlike AD patients and controls. Hypothalamic volume is not related to loss of appetite or hypermetabolism. In ALS patients, lower hypothalamic volume with lower BMI is associated with weight loss and earlier death.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Cory J. Holdom, Jordi W. J. van Unnik, Ruben P. A. van Eijk, Leonard H. van den Berg, Robert D. Henderson, Shyuan T. Ngo, Frederik J. Steyn
Summary: This study examined the use of wrist and hip accelerometers to measure activity levels in patients with Motor Neuron Disease (MND) compared to controls. The results showed that wrist-based measurements were more variable and had differing sensitivity to specific functional outcomes compared to hip-based measurements. Careful selection of measurement devices and analysis methods is necessary for at-home monitoring of disease progression in patients with MND.
JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Jeremy M. Shefner, Antonio Musaro, Shyuan T. Ngo, Christian Lunetta, Frederik J. Steyn, Richard Robitaille, Mamede De Carvalho, Seward Rutkove, Albert C. Ludolph, Luc Dupuis
Summary: Amyotrophic lateral sclerosis (ALS), a major motor neuron disease, has long been considered as primarily affecting motor neurons and neuromuscular junctions, with muscle changes being secondary. However, recent studies have shown that skeletal muscle dysfunction might contribute to muscle weakness, as well as the degeneration of neuromuscular junctions and motor neurons in ALS. This article explores the various potential roles of skeletal muscle in ALS pathophysiology and compares ALS to other motor neuron diseases, providing insights for future research and treatment.
Review
Clinical Neurology
Albert Ludolph, Luc Dupuis, Edward Kasarskis, Frederik Steyn, Shyuan Ngo, Christopher McDermott
Summary: Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease with non-motor symptoms. Nutritional status and metabolic balance have been found to contribute to faster disease progression and earlier death. Cellular changes, including mitochondrial dysfunction, are also shown to contribute to bioenergetic failure in ALS. Modifying energy balance in ALS shows potential as a treatment option and multiple clinical trials are underway.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Cell & Tissue Engineering
Timothy J. Tracey, Leanne Jiang, Melinder K. Gill, Samara N. Ranie, Dmitry A. Ovchinnikov, Ernst J. Wolvetang, Shyuan T. Ngo
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease, and the TDP-43 protein plays a crucial role in its pathophysiology. This study used the CRISPR-Cas9 system to introduce a heterozygous missense mutation (c.1144G > A, p.A382T) in exon 6 of the TARDBP gene into iPSCs derived from a healthy individual. The edited iPSCs maintained normal cellular morphology, pluripotency markers expression, tri-lineage differentiation ability, and karyotype.
STEM CELL RESEARCH
(2023)
