Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin
2017 · Scientific Reports · 29 citations
https://doi.org/10.1038/srep46271
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Claudia Compagnucci
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Claudia Compagnucci is an academic researcher from Bambino Gesù Children's Hospital. The author has contributed to research in topics: Pluripotent Stem Cells Research & Mitochondrial Function and Pathology & Metabolism and Genetic Disorders. The author has an h-index of 23, co-authored 62 publications.
ORCID: 0000-0003-0877-6172Papers by this author
worksCaspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
2024 · Cell Death Discovery · 3 citations
https://doi.org/10.1038/s41420-024-01812-y
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
2025 · Cell Reports · 2 citations
https://doi.org/10.1016/j.celrep.2025.116230
Deficiencies of Riboflavin transporter 2 in the rare neurodegenerative disorder RTD2 are accompanied by ER stress responses and calcium homeostasis derangements
2024 · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 0 citations
https://doi.org/10.1016/j.bbabio.2024.149351
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