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Mitochondrial Neuropathology
Elucidating Neuronal Susceptibility to Mitochondrial Disease
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Featured publications

  • Home
    • Blog
    • Featured projects
    • Featured publications
    • Public Engagement
      • Community
      • Featured press appearances
  • QuintanaLab
  • SanzLab
  • Puig2Lab
  • CutandoLab
  • Sánchez-Benito L, González-Torres M, Fernández-González I, Cutando L, Royo M, Compte J, Vila M, Jurado S, Sanz E, & Quintana A. (2025). Dysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh Syndrome. J Clin Invest.
  • Naón D, Hernández-Alvarez M I, Shinjo S, Wieczor M, Ivanova S, Martins de Brito O, Quintana A, Hidalgo J, Palacín M, Aparicio P, Castellanos J, Lores L, Sebastián D, Fernández-Veledo S, Vendrell J, Joven J, Orozco M, Zorzano A, & Scorrano L. (2023). Splice variants of mitofusin 2 shape the endoplasmic reticulum and tether it to mitochondria. Science, 380(6651), eadh9351.
  • Cutando L, Puighermanal E, Castell L, Tarot P, Belle M, Bertaso F, Arango-Lievano M, Ango F, Rubinstein M, Quintana A, Chédotal A, Mameli M, Valjent E. (2022).  Cerebellar dopamine D2 receptors regulate social behaviors. Nature Neuroscience. 25(7):900-911.
  • Kevin Aguilar K, Comes G, Canal C, Quintana A, Sanz E, Hidalgo J. (2022). Microglial response promotes neurodegeneration in the Ndufs4 KO mouse model of Leigh syndrome. GLIA. 70(11):2032-2044.
  • van de Wal M, Adjobo-Hermans M, Keijer J, Schirris T, Homberg J, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Werner JH Koopman. (2022) Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention. Brain. 145(1):45-63.
  • Luna-Sánchez M, Bianchi P, Quintana A. (2021) Mitochondria-Induced Immune Response as a Trigger for Neurodegeneration: A Pathogen from within. Int. J. Mol. Sci. 2021, 22(16), 8523.
  • Puighermanal E, Castell L, Esteve-Codina A, Melser S, Kaganovsky K, Zussy C, Boubaker-Vitre J, Gut M, Rialle S, Kellendonk C, Sanz E, Quintana A, Marsicano G, Martin M, Rubinstein M, Girault JA, Ding JB, Valjent E. (2020). Functional and Molecular Heterogeneity of D2R Neurons Along Dorsal Ventral Axis in the Striatum. Nat Commun. 23;11(1):1957.
  • Gella A, Prada-Dacasa P, Carrascal M, Urpi A, González-Torres M, Abian J, Sanz E, Quintana A. (2020). Mitochondrial Proteome of Affected Glutamatergic Neurons in a Mouse Model of Leigh Syndrome. Front Cell Dev Biol. 28;8:660.
  • Bolea I, Gella A, Sanz E, Prada-Dacasa P, Menardy F, Bard AM, Machuca-Márquez P, Eraso-Pichot A, Mòdol-Caballero G, Navarro X, Kalume F, Quintana A. (2019). Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome. Elife. 8. pii: e47163.
  • Sanz E, Bean JC, Carey DP, Quintana A, McKnight GS. (2019). RiboTag: Ribosomal Tagging Strategy to Analyze Cell-Type-Specific mRNA Expression In Vivo. Curr  Protoc Neurosci. 88(1):e77.
  • Liu L, Zhang K, Sandoval H, Yamamoto S, Jaiswal M, Sanz E, Li Z, Hui J, Graham BH, Quintana A, Bellen HJ. (2015). Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration. Cell. 160(1-2):177-90.
  • Johnson SC, Yanos ME, Kayser EB, Quintana A, Sangesland M, Castanza A, Uhde L, Hui J, Wall VZ, Gagnidze A, Oh K, Wasko BM, Ramos FJ, Palmiter RD, Rabinovitch PS, Morgan PG, Sedensky MM, Kaeberlein M. (2013). mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome. Science. 342(6165):1524-8. Featured in Science Express in Science and Nature Medicine

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