ArticleCell stem cell2014
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
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Article in Cell stem cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 275 papers.
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275citing papers in PubMed
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275 citing papers in PubMed, 459 citations in OpenAlex.
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- Beyond Antioxidants: The Emerging Role of Nrf2 Activation in Amyotrophic Lateral Sclerosis (ALS).International journal of molecular sciences · 2025Review
- Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neurons.bioRxiv : the preprint server for biology · 2025Article
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215 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 8 institutions in 1 country.
Evangelos KiskinisThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Jackson SandoeThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Luis A WilliamsThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Gabriella L BoultingThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
Rob MocciaThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Brian J WaingerFM Kirby Neurobiology Center, Boston Children's Hospital and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA; Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, MA 02115, USA.
Steve HanThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Theodore PengThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Sebastian ThamsProject A.L.S./Jenifer Estess Laboratory for Stem Cell Research, Departments of Pathology, Neurology and Neuroscience, Columbia University, Center for Motor Neuron Biology and Disease (MNC), and Columbia Stem Cell Initiative (CSCI), New York, NY 10027, USA.
Shravani MikkilineniThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Cassidy MellinFM Kirby Neurobiology Center, Boston Children's Hospital and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Florian T MerkleThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Brandi N Davis-DusenberyThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Michael ZillerHarvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
Derek OakleyProject A.L.S./Jenifer Estess Laboratory for Stem Cell Research, Departments of Pathology, Neurology and Neuroscience, Columbia University, Center for Motor Neuron Biology and Disease (MNC), and Columbia Stem Cell Initiative (CSCI), New York, NY 10027, USA.
Justin IchidaThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
Stefania Di CostanzoThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
Nick AtwaterThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA.
Morgan L MaederMolecular Pathology Unit, Center for Computational and Integrative Biology, and Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Mathew J GoodwinMolecular Pathology Unit, Center for Computational and Integrative Biology, and Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA 02129, USA.
James NemeshStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Robert E HandsakerStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Daniel PaullThe New York Stem Cell Foundation Research Institute, New York, NY 10023, USA.
Scott NoggleThe New York Stem Cell Foundation Research Institute, New York, NY 10023, USA.
Steven A McCarrollStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
J Keith JoungMolecular Pathology Unit, Center for Computational and Integrative Biology, and Center for Cancer Research, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Clifford J WoolfFM Kirby Neurobiology Center, Boston Children's Hospital and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Robert H BrownDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Kevin EgganThe Howard Hughes Medical Institute, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02138, USA. Electronic address: eggan@mcb.harvard.edu.
Harvard University · USHoward Hughes Medical Institute · USBroad Institute · USMassachusetts General Hospital · USColumbia University · USHarvard Stem Cell Institute · USNew York Stem Cell Foundation · USUniversity of Massachusetts Chan Medical School · US
Funding
Generation and Characterization of Amyotrophic Lateral Sclerosis iPS cellsRC2NS069395 · NINDS · JOHNS HOPKINS UNIVERSITY · PI CUDKOWICZ, MERIT E, EGGAN, KEVIN C · 2009 to 2010
$3.8MFull Human Genome Sequencing in ALSRC2NS070342 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI BROWN, ROBERT H. · 2009 to 2010
$3.6MAdvancing stem cell technologies using engineered zinc finger proteinsDP1GM105378 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI JOUNG, J. KEITH · 2012 to 2014
$2.6MHigh-Throughput Genomic Approaches to Identify ALS GenesR01NS050557 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI BROWN, ROBERT H. · 2005 to 2009
$2.5MAdvancing stem cell technologies using engineered zinc finger proteinsDP1OD006862 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI JOUNG, J. KEITH · 2010 to 2011
$1.8MNew hiPSC tools for astroglial-focused approaches to ALSU24NS078736 · NINDS · JOHNS HOPKINS UNIVERSITY · PI EGGAN, KEVIN C, HENDERSON, CHRISTOPHER · 2012 to 2013
$1.6MHarvard Clinical and Translational Science Center (KL2)KL2TR000168 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2012 to 2013
$965kConversion of Fibroblasts to fxnal Spinal Motor Neurons Using Defined FactorR00NS077435 · NINDS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI ICHIDA, JUSTIN KAWIKA · 2013 to 2015
$737kHoward Hughes Medical InstituteNCATS NIH HHS KL2 TR000168NIGMS NIH HHS DP1 GM105378NIH HHS DP1 OD006862NIH HHS OD006862NINDS NIH HHS 1R01NS050557NINDS NIH HHS 1U24NS078736-01NINDS NIH HHS 5RC2NS069395-02NINDS NIH HHS R00 NS077435NINDS NIH HHS R01 NS050557NINDS NIH HHS RC2 NS069395NINDS NIH HHS RC2 NS070342NINDS NIH HHS RC2-NS070-342NINDS NIH HHS U24 NS078736
Abstract
Although many distinct mutations in a variety of genes are known to cause Amyotrophic Lateral Sclerosis (ALS), it remains poorly understood how they selectively impact motor neuron biology and whether they converge on common pathways to cause neuronal degeneration. Here, we have combined reprogramming and stem cell differentiation approaches with genome engineering and RNA sequencing to define the transcriptional and functional changes that are induced in human motor neurons by mutant SOD1. Mutant SOD1 protein induced a transcriptional signature indicative of increased oxidative stress, reduced mitochondrial function, altered subcellular transport, and activation of the ER stress and unfolded protein response pathways. Functional studies demonstrated that these pathways were perturbed in a manner dependent on the SOD1 mutation. Finally, interrogation of stem-cell-derived motor neurons produced from ALS patients harboring a repeat expansion in C9orf72 indicates that at least a subset of these changes are more broadly conserved in ALS.
Indexed as
Amyotrophic Lateral SclerosisHumansMotor NeuronsMutationSuperoxide DismutaseSuperoxide Dismutase-1SOD1 protein, humanSuperoxide DismutaseSuperoxide Dismutase-1
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