Selected publications

  • Retrospective natural history of mitochondrial ATPase deficiency of in a large cohort of unreported patients.
    Carli S, Levaret A, Diodato D, Bertini E, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetsky R, La Morgia C, Carelli V, Primiano G, Dominguez C, Lorenzo PS, Martin MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Buechner B,  Mancuso M, Schuelke M, Prigione A, Garone C.  
    Neurology. 2025 April: link 

     

  • Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment. 
    Wilpert N-M, Hewitt AL. Pons R, Henke M-T, Dell'Orco A, Bauer M, Grolik C, Menz S, Wahle M, Zink A, Prigione A, Reinauer C, Lange C, Furth C, Brockmann K, Jung-Klawitter S, Christ S,  Kaindl AM, Tietze A, Krude H, Opladen T, Schuelke M.
    Movement Disorders. March 2025 : link

     

  • SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology
    van Karnebeek CDM, Müller AR, Benkemoun L, Boussaad I, Cornel MC, IntHout J, de Kort M, de Oliveira Martins S, Prigione A, Rigter T, Roes KCB, Sanchez A, Schipper R, Wilkinson MD,  ’t Hoen PAC
    Mol Genet Metab. 2025 March: link

     

  • iPSC models of mitochondrial diseases
    Heiduschka S, Prigione A
    Neurobiol Dis. 2025 Jan: link 

     

  • Disease models of Leigh syndrome: From yeast to organoids
    Henke MT, Prigione A, Schuelke M
    J Inherit Metab Dis2024 Dec: link 

     

  • Reassessment of marker genes in human induced pluripotent stem cells for enhanced quality control
    Dobner J, Diecke S, Krutmann J, Prigione A, Rossi A
    Nature Communication. 2024 Oct: link 

     

  • Fetal and obstetrics manifestations of mitochondrial diseases
    Adelizzi A, Giri A, Di Donfrancesco A, Boito S, Prigione A, Bottani E, Bollati V, Tiranti V, Persico N, Brunetti D.
    J Transl Med2024 Sept: link 

     

  • Mutant Huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure
    Lisowski P, Lickfett S, Rybak-Wolf A, Menacho C, Le S, Pentimalli TM, Notopoulou S, Dykstra W, Oehler D, Lopez-Calcerrada S, Mlody B, Otto M, Wu H, Richter Y, Roth P, Anand R,  Kulka LAM, Meierhofer D, Glazar P, Legnini I, Telugu NS, Hahn T, Neuendorf N, Miller DC, Böddrich A, Polzin A, Mayatepek E, Diecke S, Olzscha H, Kirstein J, Ugalde C, Petrakis S, Cambridge S, Rajewsky N, Kühn R, Wanker EE, Priller J, Metzger JJ*, and Prigione A*
    Nature Communication. 2024 Aug: link
    *co-last authors

     

  • Protocol for the generation of cultured cortical brain organoid slices (cBOS)
    Petersilie L, Kafitz KW, Neu L, Heiduschka S, Le S, Prigione A*, Rose CR*
    STAR Protocols. 2024 Aug: link
    *co-last authors

     

  • Balancing neuronal activity to fight neurodevelopmental disorders 
    Le S, Menacho C, Prigione A
    Trends in Neuroscience. 2024 Mar: link

     

  • mtDNA Analysis using Mitopore 
    Dobner JTN, Nguyen T, Pavez-Giani MG, Cyganek L, Distelmaier F, Krutmann J, Prigione A, Rossi A
    Mol Ther Methods Clin Dev2024 Mar: link

     

  • Cortical brain organoid slices (cBOS) as a functional model system to study human neural cells in intact minimal networks
    Petersilie L, Heiduschka S, Nelson JSE, Neu LA, Le S, Anand R, Kafitz KW, Prigione A*, Rose CR*
    iScience. 2024 Mar: link 
    *co-last authors

     

  • Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease
    Menacho C, Okawa S, Álvarez-Merz I, Wittich A, Muñoz-Oreja M, Lisowski P, Pentimalli TM, Rybak-Wolf A, Inak G, Zakin S, Thevandavakkam M, Petersilie L, Zaliani A, Mlody B, Seibt A, Donnelly J, Woleben K, Fernandez-Checa J, Herebian D, Mayatepek E, Rajewsky N, Spinazzola A, Schuelke M, Perlstein E, Rossi A, Distelmaier F, Holt IJ, Pless O, Rose CR, Del Sol A*, and Prigione A*
    BioRxiv. 2024: link 

    *co-last authors

     

  • Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids
    Tolle I, Tiranti V, Prigione A
    EMBO Reports. 2023 Mar: link

     

  • Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome
    Daneshgar N, Leidinger MR, Le S, Hefti M, Prigione A, Dai DF
    Frontiers Neuroscience. 2023 Jan: link 

     

  • A Novel Gene Controls a New Structure: PiggyBac Transposable Element-Derived 1, Unique to Mammals, Controls Mammal-Specific Neuronal Paraspeckles
    Raskó T, Pande A, Radscheit K, Zink A, Singh M, Sommer C, Wachtl G, Kolacsek O, Inak G, Szvetnik A, Petrakis S, Bunse M, Bansal V, Selbach M, Orbán TI, Prigione A, Hurst LD, Izsvák Z
    Mol Biol Evol. 2022 Oct: link

     

  • RNA-based generation of iPSCs from a boy carrying the mutation m.9185 TC in the mitochondrial gene MT-ATP6 and from his healthy mother
    Steiner T, Zink A, Henke MT, Cecchetto G, Buenning M, Rossi A, Schuelke M, Prigione A
    Stem Cell Res. 2022 Sept: link

     

  • High-content analysis of neuronal morphology in human iPSC-derived neurons
    Lickfett S, Menacho C, Zink A, Telugu NS, Beller M, Diecke S, Cambridge S, Prigione A
    STAR Protocol 2022 Aug: link

     

  • High-content screening of mitochondrial polarization in neural cells derived from human pluripotent stem cells
    Zink A, Haferkamp U, Wittich A, Beller M, Pless O, Prigione A
    STAR Protocol. 2022 Aug: link

     

  • Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T>G or m.8993T>C in the mitochondrial gene MT-ATP6
    Lorenz C, Zink A, Henke MT, Staege S, Mlody B, Bünning M, Wanker E, Diecke S, Schuelke M, Prigione A. 
    Stem Cell Res. 2022: link

     

  •  A call for consensus guidelines on monitoring the integrity of nuclear and mitochondrial genome in human pluripotent stem cells
    Rossi A, Lickfett S, Martins S, Prigione A
    Stem Cell Reports. 2022 Mar: link

     

  • TLR4 associated signaling disrupters as a new means to overcome HERV-W ENV mediated myelination deficits 
    Goettle P, Schichel K, Reiche L, Werner L, Zink A, Prigione A, Küry P
    Front Cell Neuroscience. 2021 Nov: link 

     

  • Mitochondria in neurogenesis: implications for mitochondrial diseases
    Brunetti D, Dykstra W, Le S, Zink A, and Prigione A
    Stem Cells. 2021 Oct: link 

     

  • Stem Cell Research moving forward
    Prigione A
    Stem Cell Res. 2021 Aug: link 

     

  • The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs
    Palombo F, Peron C, Caporali L, Iannielli A, Maresca A, Di Meo I, Fiorini C, Segnali A, Sciacca F, Rizzo A, Levi S, Suomalainen A, Prigione A, Broccoli V, Carelli V, Tiranti V
    Stem Cell Reports. 2021 July: link

     

  • Bioenergetic profiling of human pluripotent stem cells
    Inak G, Henke MT, and Prigione A
    Methods Mol Biol. 2021 Jun: link 

     

  •  Generation of Human Brain Organoids for Mitochondrial Disease Modeling
    Le S, Petersilie L, Inak G, Menacho-Pando C, Kafitz KW, Rybak-Wolf A, Rajewsky N, Rose CR, Prigione A
    JoVE. 2021 Jun: link

     

  • Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
    Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A
    Nature Communication. 2021 Mar: link 

     

  •  Generation of Human iPSC-derived Neural Progenitor Cells (NPCs) as Drug Discovery Model for Neurological and Mitochondrial Disorders
    Zink, A., Lisowski, P. and Prigione, A
    Bio-protocol. 2021 Mar:  link

     

  • Assessment of ethanol-induced toxicity on iPSC-derived human neurons using a novel high-throughput mitochondrial neuronal health (MNH) assay
    Zink A, Conrad J, Telugu NS, Diecke S, Heinz A, Wanker EE, Priller J, and Prigione A
    Front. Cell Dev. Biol. 2020 Oct: link

     

  • Brain energy rescue: an emerging concept for new therapeutics in neurodegenerative disorders of aging
    Cunnane SC1, Trushina E, Morland C, Prigione A, Casadesus G, Andrews ZB, Beal MF, Bergersen LH, Brinton RD, de la Monte S, Eckert A, Harvey JZ, Jeggo R, Jhamandas JH, Kann O, Mannoury la Cour C, Martin WF, Mithieux G, Moreira PI, Murphy MP, Nave KA, Nuriel T, Oliet SHR, Saudou F, Mattson MP, Swerdlow RH, Millan MJ
    Nat Rev Drug Disc. 2020 Sept: link

     

  • PDGFA-associated protein 1 protects mature B lymphocytes from stress-induced cell death and promotes antibody gene diversification
    Delgado-Benito V, Berruezo-Llacuna M, Altwasser R, Winkler W, Sundaravinayagam D, Balasubramanian S, Caganova M, Graf R, Rahjouei A, Henke M, Driesner M, Keller L, Prigione A, Janz M, Akalin A, Di Virgilio M
    J Exp Med. 2020 Oct: link

     

  • Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery
    Laidou S, Alanis-Lobato G, Pribyl J, Rasko T, Tichy B, Mikulasek K, Tsagiopoulou M, Oppelt J, Kastrinaki G, Lefaki M, Singh M, Zink A, Chondrogianni N, Psomop F, Prigione A, Ivics Z, Popsilova S, Skadal P, Izsvak Z, Petrakis S
    Redox Biology. 2020 May: link

     

  • Tackling mitochondrial diversity in brain function: from animal models to human brain organoids
    Menacho C, Prigione A
    Int J Biochem Cell Biol. 2020: link

     

  • Mitochondria and the dynamic control of stem cell homeostasis
    Lisowski P, Kannan P, Mlody B, Prigione A
    EMBO Reports. 2018 Apr: link

     

  • Pluripotent stem cells for uncovering the role of mitochondria in human brain function and dysfunction
    Zink A, Priller J, Prigione A
    J Mol Biol. 2018 Feb: link

     

  • Complete suppression of Htt fibrilization and disaggregation of Htt fibrils by a trimeric chaperone complex
    Scior A, Arnsburg K, Iburg M, Juenemann K, Pigazzini ML, Mlody B, Puchkov D, Ast A, Buntru A, Priller J, Wanker EE, Prigione A, Kirstein J
    EMBO J. 2018 Jan: link

     

  • A Glycolytic Solution for Pluripotent Stem Cells
    Mlody B, Prigione A
    Cell Stem Cell. 2016 Oct: link 

     

  • iPSC-based drug discovery for mitochondrial disease
    Inak G, Lorenz C, Lisowski P, Zink A, Mlody B, Prigione A
    Stem Cells. 2017 Jul: link

     

  • Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders
    Lorenz C, Lesimple P, Bukowiecki R, Zink A, Inak G, Mlody B, Singh M, Semtner M, Mah N, Leong M, Auré K, Pfiffer V, Fauler B, Eichhorst J, Lyras EM, Wiesner B, Priller J, Huebner N, Mielke T, Meierhofer D, Izsvák Z, Meier JC, Bouillaud F, Adjaye J, Wanker E, Schuelke M, Lombès A, Prigione A
    Cell Stem Cell. 2017 May: link

     

  • Isolation and Cultivation of Naïve-like Human Pluripotent Stem Cells based on LTR7/HERVH Expression
     Wang J, Singh M, Sun C, Besser D, Prigione A, Ivics Z, Hurst L, Izsvák Z.
    Nature Protocols. 2016 Jan: link

     

  • Primate-specific endogenous retrovirus driven transcription defines naïve-like stem cells
    Wang J, Xie G, Singh M, Ghanbarian AT, Raskó T, Szvetnik A, Cai H, Besser D, Prigione A, Fuchs N, Schumann G, Chen W, Lorincz MC, Ivics Z, Hurst LD, Izsvák Z
    Nature. 2014 Oct: link

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