Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS

Hall, Claire E., Yao, Zhi, Choi, Minee, Tyzack, Giulia E., Serio, Andrea, Luisier, Raphaelle, Harley, Jasmine, Preza, Elisavet +16 more·2017·Cell Reports

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  16. Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients
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  20. Modelling neurodegenerative diseases in vitro: Recent advances in 3D iPSC technologies
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  40. Single cell transcriptomics identifies master regulators of neurodegeneration in SOD1 ALS motor neurons
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  46. THERMODYNAMIC PROPERTIES OF SOLID ALUMINUM-SILVER ALLOYS. TECHNICAL REPORT NO. 20, SCOPE II
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  47. Introductory Chapter: The Importance of Astrocytes in the Research of CNS Diseases
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  48. Widespread FUS mislocalization is a molecular hallmark of ALS
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  49. An aberrant cytoplasmic intron retention programme is a blueprint for ALS-related RBP mislocalization
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  50. Insulin in Amyotrophic Lateral Sclerosis: Impairment, Tests and Treatment
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  52. “Generation of morphologically distinct astrocyte subtypes from human iPSCs reveals a link between glial shape, function and reactivity”
    Kelly O’Toole, Ludovica Guetta, Paulina Urbanaviciute, Pacharaporn Suklai, Chandler Wright, Theodore Fisher, Shane Antony Liddelow, Raphaëlle Luisier, Sarah J. Marzi, Andrea Serio · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  53. Comparative analysis of chemical and lentiviral approaches in the generation of human induced pluripotent stem cell–derived motor neurons
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  54. Astrocyte Secretome Profiling via Biorthogonal Labeling Unveils Novel Factors Relevant to Neurodegenerative Diseases
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  55. ALS: An Organism-Wide Bioenergetic Failure Due to Mitochondrial Dysfunctions?
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  56. Astrocyte-Neuron Interactions Contributing to Amyotrophic Lateral Sclerosis Progression
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  57. Endoplasmic Reticulum Stress and Protein Misfolding in Neurodegenerative Diseases
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  58. Induced pluripotent stem cell derived from postmortem tissue in neurodegenerative disease research
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