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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron, Desiree M; Fenton, Adam R; Saez-Atienzar, Sara; Giampetruzzi, Anthony; Sreeram, Aparna; Keagle, Pamela J; Doocy, Victoria R; Smith, Nathan J; Danielson, Eric W; Andresano, Megan; McCormack, Mary C; Garcia, Jaqueline; Bercier, Valérie; Van Den Bosch, Ludo; Brent, Jonathan R; Fallini, Claudia; Traynor, Bryan J; Holzbaur, Erika L F; Landers, John E.
Afiliación
  • Baron DM; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Fenton AR; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Pennsylvania Muscle Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Saez-Atienzar S; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Giampetruzzi A; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Sreeram A; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Shankaracharya; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Keagle PJ; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Doocy VR; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Smith NJ; Department of Biochemistry, University of Nebraska-Lincoln, Lincoln, NE 68588, USA.
  • Danielson EW; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Andresano M; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • McCormack MC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Garcia J; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Bercier V; KU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
  • Van Den Bosch L; KU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
  • Brent JR; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
  • Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA; George and Anne Ryan Institute for Neuroscience, University of Rhode Island, Kingston, RI 02881, USA; Department of Cell and Molecular Biology, University of Rhode Island, Kingston, RI 02881, USA; Departme
  • Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA; Therapeutic Development Branch, National Center for Advancing Translational Sciences, NIH, Roc
  • Holzbaur ELF; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Pennsylvania Muscle Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: john.landers@umassmed.edu.
Cell Rep ; 39(1): 110598, 2022 04 05.
Article en En | MEDLINE | ID: mdl-35385738
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos