Carmen Menacho

Aug 22, 2024 | nature.com | Selene Lickfett |Agnieszka Rybak-Wolf |Carmen Menacho |Stephanie Le |Tancredi Massimo Pentimalli |Daniel Oehler | +14 more

AbstractExpansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To gain mechanistic insights into the neurodevelopmental impact of human mHTT, we engineered male induced pluripotent stem cells to introduce a biallelic or monoallelic mutant 70Q expansion or to remove the poly-Q tract of HTT.

Jul 12, 2024 | biorxiv.org | Carmen Menacho |Satoshi Okawa |Iris Alvarez-Merz |Annika Wittich

AbstractMitochondrial disease encompasses untreatable conditions affecting tissues with high energy demands. A severe manifestation of mitochondrial disease is Leigh syndrome (Leigh), which causes defects in basal ganglia and midbrain regions, psychomotor regression, lactic acidosis, and early death. We previously generated isogenic pairs of Leigh cerebral organoids and uncovered defects in neuromorphogenesis. Here, we leveraged on this disease feature to devise drug discovery pipelines.

Mar 22, 2024 | cell.com | Stephanie Le |Heinrich Heine |Carmen Menacho |Alessandro Prigione

AbstractIn a recent study, Rylaarsdam and colleagues revealed that mutant PACS1 gene, which causes a rare neurodevelopmental syndrome, affects the firing ability of human neurons without dysregulating the cellular architecture of brain organoids. These findings suggest aberrant neuronal electrophysiology as a possible interventional target for pediatric diseases impairing brain development.

Feb 24, 2024 | mdpi.com | Carmen Menacho |Maria Soler |Patricia Chueca |María P Ormad

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