ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.

Autor: 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; Department of Biomedical and Pharmaceutical Sciences, University of Rhode Island, Kingston, RI 02881, USA., 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, Rockville, MD 20850, USA., 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.

Publikováno v: Cell reports [Cell Rep] 2022 Apr 05; Vol. 39 (1), pp. 110598.

Molecular Motors in Myelination and Their Misregulation in Disease.

Autor: Barbosa DJ; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal. daniel.barbosa@iucs.cespu.pt.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, University Institute of Health Sciences - CESPU, 4585-116, Gandra, Portugal. daniel.barbosa@iucs.cespu.pt.; UCIBIO - Applied Molecular Biosciences Unit, Translational Toxicology Research Laboratory, University Institute of Health Sciences (1H-TOXRUN, IUCS-CESPU), 4585-116, Gandra, Portugal. daniel.barbosa@iucs.cespu.pt., Carvalho C; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313, Porto, Portugal., Costa I; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Faculty of Pharmacy, University of Porto, 4050-313, Porto, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Laboratory of Toxicology, Department of Biological Sciences, Faculty of Pharmacy, University of Porto, 4050-313, Porto, Portugal., Silva R; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Faculty of Pharmacy, University of Porto, 4050-313, Porto, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Laboratory of Toxicology, Department of Biological Sciences, Faculty of Pharmacy, University of Porto, 4050-313, Porto, Portugal.

Publikováno v: Molecular neurobiology [Mol Neurobiol] 2024 Oct 31. Date of Electronic Publication: 2024 Oct 31.

Using ALS to understand profilin 1's diverse roles in cellular physiology.

Autor: Lindamood HL; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia, USA., Liu TM; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia, USA., Read TA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia, USA., Vitriol EA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia, USA.

Publikováno v: Cytoskeleton (Hoboken, N.J.) [Cytoskeleton (Hoboken)] 2024 Jul 26. Date of Electronic Publication: 2024 Jul 26.