The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease

Autor: Kunie Ando, Marième Ndjim, Sabrina Turbant, Gaëlle Fontaine, Gustavo Pregoni, Luce Dauphinot, Zehra Yilmaz, Valérie Suain, Salwa Mansour, Michèle Authelet, Robert De Dekker, Karelle Leroy, Benoît Delatour, Brain Bank NeuroCEB Neuropathology Network, Charles Duyckaerts, Marie-Claude Potier, Jean-Pierre Brion

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-15 (2020)

Abstract Synaptojanin 1 (SYNJ1) is a brain-enriched lipid phosphatase critically involved in autophagosomal/endosomal trafficking, synaptic vesicle recycling and metabolism of phosphoinositides. Previous studies suggest that SYNJ1 polymorphisms have

Externí odkaz: https://doaj.org/article/0a052a9fe57e48cdaf033a75854e03be

Intracranial Aneurysm-Associated Single-Nucleotide Polymorphisms Alter Regulatory DNA in the Human Circle of Willis.

Autor: Laarman MD; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Vermunt MW; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Kleinloog R; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., de Boer-Bergsma JJ; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Brain Bank N; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Rinkel GJE; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Creyghton MP; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Mokry M; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Bakkers J; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.)., Ruigrok YM; From the Department of Neurology and Neurosurgery (M.D.L., R.K., G.J.E., Y.M.R.), Hubrecht Institute-KNAW, and Division of Heart and Lungs, Department of Medical Physiology (J.B.), University Medical Center Utrecht, the Netherlands (M.D.L., M.W.V., M.P.C., J.B.); Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.J.d.B.-B.); Netherlands Institute for Neuroscience, Amsterdam (N.B.B.); and Division of Pediatrics, Wilhelmina Children's Hospital, Utrecht, the Netherlands (M.M.). ij.m.ruigrok@umcutrecht.nl.

Publikováno v: Stroke [Stroke] 2018 Feb; Vol. 49 (2), pp. 447-453. Date of Electronic Publication: 2018 Jan 04.