Biallelic mutation of human

Biological Transport / physiology Cell Membrane / metabolism Cells, Cultured Guanosine / analogs & derivatives Humans Leukocytes, Mononuclear / metabolism Membrane Glycoproteins / genetics Membrane Transport Proteins / genetics Muscle, Skeletal / metabolism Mutation, Missense / genetics Oxidative Stress / physiology Retinal Degeneration / metabolism Taurine / metabolism
consanguinity exome sequencing homozygosity mapping

Journal

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
ISSN: 1530-6860
Titre abrégé: FASEB J
Pays: United States
ID NLM: 8804484

Informations de publication

Date de publication:
10 2019
Historique:
pubmed: 28 7 2019
medline: 26 5 2020
entrez: 27 7 2019
Statut: ppublish

Résumé

We previously reported that inactivation of the transmembrane taurine transporter (TauT or solute carrier 6a6) causes early retinal degeneration in mice. Compatible with taurine's indispensability for cell volume homeostasis, protein stabilization, cytoprotection, antioxidation, and immuno- and neuromodulation, mice develop multisystemic dysfunctions (hearing loss; liver fibrosis; and behavioral, heart, and skeletal muscle abnormalities) later on. Here, by genetic, cell biologic,

Identifiants

DOI: 10.1096/fj.201900914RR PMID: 31345061
pubmed: 31345061
doi: 10.1096/fj.201900914RR
doi:

Substances chimiques

Membrane Glycoproteins 0
Membrane Transport Proteins 0
Guanosine 12133JR80S
taurine transporter 148686-53-7
Taurine 1EQV5MLY3D
8-hydroxyguanosine 3868-31-3

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

11507-11527

Auteurs

Markus N Preising (MN)

Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.

Boris Görg (B)

Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Christoph Friedburg (C)

Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.

Natalia Qvartskhava (N)

Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Birgit S Budde (BS)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Michele Bonus (M)

Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Mohammad R Toliat (MR)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Christopher Pfleger (C)

Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Janine Altmüller (J)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

Diran Herebian (D)

Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Mila Beyer (M)

Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Helge J Zöllner (HJ)

Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Hans-Jörg Wittsack (HJ)

Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Jörg Schaper (J)

Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Dirk Klee (D)

Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Ulrich Zechner (U)

Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.
Institute of Human Genetics, Mainz University Medical Center, Mainz, Germany.

Peter Nürnberg (P)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.

Jörg Schipper (J)

Klinik für Hals-Nasen-Ohren Heilkunde, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Alfons Schnitzler (A)

Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Holger Gohlke (H)

Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
John von Neumann Institute for Computing (NIC)-Jülich Supercomputing Centre (JSC)-Structural Biochemistry, Institute of Complex Systems (ICS 6), Research Centre Jülich, Jülich, Germany.

Birgit Lorenz (B)

Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.

Dieter Häussinger (D)

Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Hanno J Bolz (HJ)

Institute of Human Genetics, University of Cologne, Cologne, Germany.
Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.

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Classifications MeSH

questionsmedicales.fr › Métabolisme › Transport biologique › Biallelic mutation of human
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Biallelic mutation of human
questionsmedicales.fr › Cellules › Cellules cultivées › Biallelic mutation of human
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléosides › Ribonucléosides › Guanosine › Biallelic mutation of human
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Biallelic mutation of human
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Biallelic mutation of human
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Glycoprotéines membranaires › Biallelic mutation of human
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Biallelic mutation of human
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › Biallelic mutation of human
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Biallelic mutation of human
questionsmedicales.fr › Phénomènes physiologiques › Stress physiologique › Stress oxydatif › Biallelic mutation of human
questionsmedicales.fr › Maladies de l'oeil › Rétinopathies › Dégénérescence de la rétine › Biallelic mutation of human
questionsmedicales.fr › Composés chimiques organiques › Composés du soufre › Acides du soufre › Acides sulfoniques › Acides alcanesulfoniques › Taurine › Biallelic mutation of human