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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Author

Listed:
  • Chi-Hong Wu

    (University of Massachusetts Medical School)

  • Claudia Fallini

    (Emory University School of Medicine)

  • Nicola Ticozzi

    (IRCCS Istituto Auxologico Italiano, Milan 20149, Italy)

  • Pamela J. Keagle

    (University of Massachusetts Medical School)

  • Peter C. Sapp

    (University of Massachusetts Medical School
    Howard Hughes Medical Institute (HHMI), Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, Massachusetts 02139, USA)

  • Katarzyna Piotrowska

    (University of Massachusetts Medical School)

  • Patrick Lowe

    (University of Massachusetts Medical School)

  • Max Koppers

    (Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands)

  • Diane McKenna-Yasek

    (University of Massachusetts Medical School)

  • Desiree M. Baron

    (University of Massachusetts Medical School)

  • Jason E. Kost

    (University of Massachusetts Medical School)

  • Paloma Gonzalez-Perez

    (University of Massachusetts Medical School)

  • Andrew D. Fox

    (University of Massachusetts Medical School)

  • Jenni Adams

    (University of Massachusetts Medical School)

  • Franco Taroni

    (Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan 20133, Italy)

  • Cinzia Tiloca

    (IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
    Doctoral School in Molecular Medicine, Università degli Studi di Milano, Milan 20122, Italy)

  • Ashley Lyn Leclerc

    (University of Massachusetts Medical School)

  • Shawn C. Chafe

    (University of Guelph, Guelph, Ontario N1G2W1, Canada)

  • Dev Mangroo

    (University of Guelph, Guelph, Ontario N1G2W1, Canada)

  • Melissa J. Moore

    (Howard Hughes Medical Institute, University of Massachusetts Medical School)

  • Jill A. Zitzewitz

    (University of Massachusetts Medical School)

  • Zuo-Shang Xu

    (University of Massachusetts Medical School)

  • Leonard H. van den Berg

    (Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands)

  • Jonathan D. Glass

    (Center for Neurodegenerative Disease, Emory University School of Medicine)

  • Gabriele Siciliano

    (University of Pisa, 56126 Pisa, Italy)

  • Elizabeth T. Cirulli

    (Center for Human Genome Variation, Duke University School of Medicine)

  • David B. Goldstein

    (Center for Human Genome Variation, Duke University School of Medicine)

  • Francois Salachas

    (Centre Référent Maladies Rares, APHP, UPMC, Hôpital de la Salpêtrière, Paris 75013, France)

  • Vincent Meininger

    (Centre Référent Maladies Rares, APHP, UPMC, Hôpital de la Salpêtrière, Paris 75013, France)

  • Wilfried Rossoll

    (Emory University School of Medicine)

  • Antonia Ratti

    (IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
    ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan 20122, Italy)

  • Cinzia Gellera

    (Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan 20133, Italy)

  • Daryl A. Bosco

    (University of Massachusetts Medical School)

  • Gary J. Bassell

    (Emory University School of Medicine
    Center for Neurodegenerative Disease, Emory University School of Medicine)

  • Vincenzo Silani

    (IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
    ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan 20122, Italy)

  • Vivian E. Drory

    (Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, 64239 Tel-Aviv, Israel)

  • Robert H. Brown Jr

    (University of Massachusetts Medical School)

  • John E. Landers

    (University of Massachusetts Medical School)

Abstract

Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.

Suggested Citation

  • Chi-Hong Wu & Claudia Fallini & Nicola Ticozzi & Pamela J. Keagle & Peter C. Sapp & Katarzyna Piotrowska & Patrick Lowe & Max Koppers & Diane McKenna-Yasek & Desiree M. Baron & Jason E. Kost & Paloma , 2012. "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis," Nature, Nature, vol. 488(7412), pages 499-503, August.
    • Handle: RePEc:nat:nature:v:488:y:2012:i:7412:d:10.1038_nature11280
    DOI: 10.1038/nature11280
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    Cited by:

    1. Salome Funes & Jonathan Jung & Del Hayden Gadd & Michelle Mosqueda & Jianjun Zhong & Shankaracharya & Matthew Unger & Karly Stallworth & Debra Cameron & Melissa S. Rotunno & Pepper Dawes & Megan Fowle, 2024. "Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia," Nature Communications, Nature, vol. 15(1), pages 1-25, December.

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