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Research Article

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

  • Mikołaj Słabicki,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Mirko Theis,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Dragomir B. Krastev,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Sergey Samsonov,

    Affiliation: Structural Bioinformatics, BIOTEC TU, Dresden, Germany

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  • Emeline Mundwiller,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France

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  • Magno Junqueira,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Maciej Paszkowski-Rogacz,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Joan Teyra,

    Affiliation: Structural Bioinformatics, BIOTEC TU, Dresden, Germany

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  • Anne-Kristin Heninger,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Ina Poser,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Fabienne Prieur,

    Affiliation: Hôpital Nord, Saint Etienne, France

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  • Jérémy Truchetto,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France

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  • Christian Confavreux,

    Affiliation: Hôpital Neurologique, Lyon, France

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  • Cécilia Marelli,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France, APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

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  • Alexandra Durr,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France, APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

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  • Jean Philippe Camdessanche,

    Affiliation: Hôpital Nord, Saint Etienne, France

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  • Alexis Brice,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France, APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

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  • Andrej Shevchenko,

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • M. Teresa Pisabarro,

    Affiliation: Structural Bioinformatics, BIOTEC TU, Dresden, Germany

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  • Giovanni Stevanin,

    Affiliations: INSERM, Unit 975 Paris, France, Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, CNRS, Unité Mixte de Recherche 7225 Paris, France, APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

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  • Frank Buchholz mail

    buchholz@mpi-cbg.de

    Affiliation: Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany

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  • Published: June 29, 2010
  • DOI: 10.1371/journal.pbio.1000408

About the Authors

Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev, Magno Junqueira, Maciej Paszkowski-Rogacz, Anne-Kristin Heninger, Ina Poser, Andrej Shevchenko, Frank Buchholz
Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany
Sergey Samsonov, Joan Teyra, M. Teresa Pisabarro
Structural Bioinformatics, BIOTEC TU, Dresden, Germany
Emeline Mundwiller, Jérémy Truchetto, Cécilia Marelli, Alexandra Durr, Alexis Brice, Giovanni Stevanin
INSERM, Unit 975 Paris, France
Emeline Mundwiller, Jérémy Truchetto, Cécilia Marelli, Alexandra Durr, Alexis Brice, Giovanni Stevanin
Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France
Emeline Mundwiller, Jérémy Truchetto, Cécilia Marelli, Alexandra Durr, Alexis Brice, Giovanni Stevanin
CNRS, Unité Mixte de Recherche 7225 Paris, France
Fabienne Prieur, Jean Philippe Camdessanche
Hôpital Nord, Saint Etienne, France
Christian Confavreux
Hôpital Neurologique, Lyon, France
Cécilia Marelli, Alexandra Durr, Alexis Brice, Giovanni Stevanin
APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

Corresponding Author

Email: buchholz@mpi-cbg.de

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

The author(s) have made the following declarations about their contributions: Conceived and designed the experiments: MS GS FB. Performed the experiments: MS MT DBK SS EM MJ JT AKH JT MTP GS. Analyzed the data: MS MPR MTP GS FB. Contributed reagents/materials/analysis tools: IP FP CC CM AD JPC AB AS. Wrote the paper: MS GS FB.