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ANXA11 Mutations Prevail in Chinese ALS Patients with and Without Cognitive Dementia E237

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Volume 4, Number 3, June 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia e237 ARTICLE Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016 e239 ARTICLE Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis e245 CLINICAL/SCIENTIFIC NOTE Brain copper storage aft er genetic long-term correction in a mouse model of Wilson disease e243 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). Ralph L. Sacco, MD, MS, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published James C. Stevens, MD, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2018 American Academy of Neurology. Terrence L. Cascino, MD, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com Executive Office, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Catherine M. Rydell, CAE, Executive Director/CEO article. Alternatively, send an email to [email protected]. 20l Chicago Ave General information about permissions can be found here: https://shop.lww.com/ journal-permission. Minneapolis, MN 55415 Disclaimer: Opinions expressed by the authors and advertisers are not Tel: 612-928-6000 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. The American Academy of Neurology, its affiliates, and the Publisher disclaim any liability to any party for the accuracy, completeness, Editorial Office efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use Patricia K. Baskin, MS, Executive Editor or non-use of any of the material contained in this publication. Kathleen M. Pieper, Senior Managing Editor, Neurology Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, Lee Ann Kleffman, Managing Editor, Neurology: Genetics New York, NY 10001. 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Kaitlyn Aman Ramm, Editorial Assistant Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Kristen Swendsrud, Editorial Assistant Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8638, [email protected]. International: Andrew Andrea Willgohs, Editorial Assistant Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; [email protected]. Publisher Wolters Kluwer Baltimore, MD Publishing Staff Kim Jansen, Executive Publisher Jessica Heise, Production Team Leader, Neurology Journals Megen Miller, Production Editor Steve Rose, Editorial Assistant Stacy Drossner, Production Associate A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG Neurology® Genetics Editor Stefan M. Pulst, MD, Dr med, FAAN Vision Neurology®: Genetics will be the premier peer- reviewed journal in the field of neurogenetics. Deputy Editor Nicholas Elwood Johnson, MD Mission Neurology: Genetics will provide neurologists Associate Editors with outstanding original contributions that Alexandra Durr, MD, PhD elucidate the role of genetic and epigenetic Massimo Pandolfo, MD, FAAN variation in diseases and biological traits of Raymond P. Roos, MD, FAAN the central and peripheral nervous systems. Jeffery M. Vance, MD, PhD Editorial Board Editorial Tel: 612-928-6400 Hilary Coon, PhD Giovanni Coppola, MD Inquiries Toll-free: 800-957-3182 (US) ChantalDepondt, MD, PhD Fax: 612-454-2748 Brent L. Fogel, MD, PhD, FAAN [email protected] AnthonyJ. Griswold, PhD Orhun H. Kantarci, MD Julie R. Korenberg, PhD, MD Stay facebook.com/NeurologyGenetics MargheritaMilone, MD, PhD Connected Davide Pareyson, MD twitter.com/greenjournal Shoji Tsuji, MD,PhD DinekeS. Verbeek,PhD youtube.com/user/NeurologyJournal David Viskochil, MD,PhD JulianeWinkelmann, MD Juan I. Young, PhD Neurology® Journals Editor-in-Chief Classification of Evidence Robert A. Gross, MD, PhD, FAAN Review Team Melissa J. Armstrong, MD Deputy Editor Richard L. Barbano, MD,PhD, FAAN Bradford B. Worrall, MD, MSc, FAAN RichardM.Dubinsky,MD,MPH,FAAN Jeffrey J. Fletcher, MD, MSc Section Editors Gary M. Franklin, MD, MPH, FAAN David S. Gloss II, MD,MPH&TM Biostatistics John J. Halperin, MD,FAAN Richard J. Kryscio, PhD Jason Lazarou, MSc, MD Christopher A. Beck, PhD Steven R. Mess´e, MD, FAAN Sue Leurgans, PhD Pushpa Narayanaswami, MBBS, DM, FAAN fi Classi cation of Evidence Evaluations Alex Rae-Grant, MD Gary S. Gronseth, MD, FAAN Podcasts Andrew M. Southerland, MD, MSc Ted M. Burns, MD, Deputy Podcast Editor Ombudsman David S. Knopman, MD, FAAN Scientific Integrity Advisor Robert B. Daroff, MD, FAAN TABLE OF CONTENTS Volume 4, Number 3, June 2018 Neurology.org/NG e239 Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016 M. Ryan, M. Heverin, M.A. Doherty, N. Davis, E.M. Corr, A. Vajda, N. Pender, R. McLaughlin, and O. Hardiman Open Access e242 Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing S. Walker, R. Dad, B. Thiruvahindrapuram, M.I. Ullah, A. Ahmad, M.J. Hassan, S.W. Scherer, and B.A. Minassian Open Access e240 Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F N.M. Shanbhag, M.D. Geschwind, J.J. DiGiovanna, C. Groden, R. Godfrey, M.J. Yousefzadeh, E.A. Wade, L.J. Niedernhofer, M.C.V. Malicdan, K.H. Kraemer, W.A. Gahl, and C. Toro Open Access e244 Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy M.T. Sainio, E. Ylikallio, L. M¨aenp¨a¨a, J. Lahtela, P. Mattila, M. Auranen, J. Palmio, and H. Tyynismaa Open Access Clinical/Scientific Notes e232 Expanding the global prevalence of spinocerebellar ataxia type 42 K. Ngo, M. Aker, L.E. Petty, J. Chen, F. Cavalcanti, A.B. Nelson, S. Hassin-Baer, M.D. Geschwind, S. Perlman, D. Italiano, A. Lagan`a, S. Cavallaro, G. Coppola, J.E. Below, and B.L. Fogel Open Access e243 Brain copper storage after genetic long-term correction in Editorial a mouse model of Wilson disease R. Uerlings, D. Moreno, O. Murillo, C. Gazquez, R. Hern´andez-Alcoceba, e241 Whole-exome sequencing to disentangle the complex G. Gonz´alez-Aseguinolaza, and R. Weiskirchen genetics of hippocampal sclerosis–temporal lobe epilepsy Open Access P. Striano and C. Nobile Open Access Companion article, e245 Correction Articles e238 Expanding the global prevalence of spinocerebellar ataxia type 42 e245 Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis J.K.L. Wong, H. Gui, M. Kwok, P.W. Ng, C.H.T. Lui, L. Baum, P.C. Sham, P. Kwan, and S.S. Cherny Open Access Editorial, e241 e236 Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome M.S. Hildebrand, A.S. Harvey, S. Malone, J.A. Damiano, H. Do, Z. Ye, L. McQuillan, W. Maixner, R. Kalnins, B. Nolan, M. Wood, E. Ozturk, N.C. Jones, G. Gillies, K. Pope, P.J. Lockhart, A. Dobrovic, R.J. Leventer, I.E. Scheffer, and S.F. Berkovic Open Access Cover image e237 ANXA11 mutations prevail in Chinese ALS patients with Immunocytochemical analysis of MAP2 (green) and TUBB3 (red) and without cognitive dementia proteins in iPSC-derived neurons of a patient with early-onset Charcot- “ fi K. Zhang, Q. Liu, K. Liu, D. Shen, H. Tai, S. Shu, Q. Ding, H. Fu, S. Liu, Marie-Tooth neuropathy. See Absence of NEFL in patient-speci c Z. Wang, X. Li, M. Liu, X. Zhang, and L. Cui neurons in early-onset Charcot-Marie-Tooth neuropathy.” Open Access See e244 EDITORIAL OPEN ACCESS Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy Pasquale Striano, MD, PhD, and Carlo Nobile, PhD Correspondence Dr. Striano Neurol Genet 2018;4:e241. doi:10.1212/NXG.0000000000000241 [email protected] Mesial temporal
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  • Strand Breaks for P53 Exon 6 and 8 Among Different Time Course of Folate Depletion Or Repletion in the Rectosigmoid Mucosa

    Strand Breaks for P53 Exon 6 and 8 Among Different Time Course of Folate Depletion Or Repletion in the Rectosigmoid Mucosa

    SUPPLEMENTAL FIGURE COLON p53 EXONIC STRAND BREAKS DURING FOLATE DEPLETION-REPLETION INTERVENTION Supplemental Figure Legend Strand breaks for p53 exon 6 and 8 among different time course of folate depletion or repletion in the rectosigmoid mucosa. The input of DNA was controlled by GAPDH. The data is shown as ΔCt after normalized to GAPDH. The higher ΔCt the more strand breaks. The P value is shown in the figure. SUPPLEMENT S1 Genes that were significantly UPREGULATED after folate intervention (by unadjusted paired t-test), list is sorted by P value Gene Symbol Nucleotide P VALUE Description OLFM4 NM_006418 0.0000 Homo sapiens differentially expressed in hematopoietic lineages (GW112) mRNA. FMR1NB NM_152578 0.0000 Homo sapiens hypothetical protein FLJ25736 (FLJ25736) mRNA. IFI6 NM_002038 0.0001 Homo sapiens interferon alpha-inducible protein (clone IFI-6-16) (G1P3) transcript variant 1 mRNA. Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GALNTL5 NM_145292 0.0001 (GALNT15) mRNA. STIM2 NM_020860 0.0001 Homo sapiens stromal interaction molecule 2 (STIM2) mRNA. ZNF645 NM_152577 0.0002 Homo sapiens hypothetical protein FLJ25735 (FLJ25735) mRNA. ATP12A NM_001676 0.0002 Homo sapiens ATPase H+/K+ transporting nongastric alpha polypeptide (ATP12A) mRNA. U1SNRNPBP NM_007020 0.0003 Homo sapiens U1-snRNP binding protein homolog (U1SNRNPBP) transcript variant 1 mRNA. RNF125 NM_017831 0.0004 Homo sapiens ring finger protein 125 (RNF125) mRNA. FMNL1 NM_005892 0.0004 Homo sapiens formin-like (FMNL) mRNA. ISG15 NM_005101 0.0005 Homo sapiens interferon alpha-inducible protein (clone IFI-15K) (G1P2) mRNA. SLC6A14 NM_007231 0.0005 Homo sapiens solute carrier family 6 (neurotransmitter transporter) member 14 (SLC6A14) mRNA.
  • Directional Exosome Proteomes Reflect Polarity-Specific Functions in Retinal Pigmented Epithelium Monolayers

    Directional Exosome Proteomes Reflect Polarity-Specific Functions in Retinal Pigmented Epithelium Monolayers

    www.nature.com/scientificreports Correction: Author Correction OPEN Directional Exosome Proteomes Refect Polarity-Specifc Functions in Retinal Pigmented Epithelium Received: 9 February 2017 Accepted: 30 May 2017 Monolayers Published online: 07 July 2017 Mikael Klingeborn1, W. Michael Dismuke1, Nikolai P. Skiba1, Una Kelly1, W. Daniel Stamer1,2 & Catherine Bowes Rickman1,3 The retinal pigmented epithelium (RPE) forms the outer blood-retinal barrier in the eye and its polarity is responsible for directional secretion and uptake of proteins, lipoprotein particles and extracellular vesicles (EVs). Such a secretional division dictates directed interactions between the systemic circulation (basolateral) and the retina (apical). Our goal is to defne the polarized proteomes and physical characteristics of EVs released from the RPE. Primary cultures of porcine RPE cells were diferentiated into polarized RPE monolayers on permeable supports. EVs were isolated from media bathing either apical or basolateral RPE surfaces, and two subpopulations of small EVs including exosomes, and dense EVs, were purifed and processed for proteomic profling. In parallel, EV size distribution and concentration were determined. Using protein correlation profling mass spectrometry, a total of 631 proteins were identifed in exosome preparations, 299 of which were uniquely released apically, and 94 uniquely released basolaterally. Selected proteins were validated by Western blot. The proteomes of these exosome and dense EVs preparations suggest that epithelial polarity impacts directional release. These data serve as a foundation for comparative studies aimed at elucidating the role of exosomes in the molecular pathophysiology of retinal diseases and help identify potential therapeutic targets and biomarkers. Te retinal pigmented epithelium (RPE) is a cell monolayer that is situated between the photoreceptors and the systemic circulation of the choroid.