Literature DB >> 21353613

Natural course of glutamine synthetase deficiency in a 3 year old patient.

Johannes Häberle1, Noora Shahbeck, Khalid Ibrahim, Georg F Hoffmann, Tawfeg Ben-Omran.   

Abstract

Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2 year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 21353613     DOI： 10.1016/j.ymgme.2011.02.001

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  22 in total

Review 1.  Translational potential of astrocytes in brain disorders.

Authors:  Alexei Verkhratsky; Luca Steardo; Vladimir Parpura; Vedrana Montana
Journal:  Prog Neurobiol       Date:  2015-09-16       Impact factor: 11.685

Review 2.  Astrocytes and Glutamine Synthetase in Epileptogenesis.

Authors:  Tore Eid; Tih-Shih W Lee; Peter Patrylo; Hitten P Zaveri
Journal:  J Neurosci Res       Date:  2018-07-18       Impact factor: 4.164

3.  Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

Authors:  Liyan Hu; Khalid Ibrahim; Martin Stucki; Michele Frapolli; Noora Shahbeck; Farrukh A Chaudhry; Boris Görg; Dieter Häussinger; W Todd Penberthy; Tawfeg Ben-Omran; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2015-04-21       Impact factor: 4.982

Review 4.  Regulation of astrocyte glutamine synthetase in epilepsy.

Authors:  Tore Eid; Nathan Tu; Tih-Shih W Lee; James C K Lai
Journal:  Neurochem Int       Date:  2013-06-18       Impact factor: 3.921

Review 5.  Roles of glutamine synthetase inhibition in epilepsy.

Authors:  Tore Eid; Kevin Behar; Ronnie Dhaher; Argyle V Bumanglag; Tih-Shih W Lee
Journal:  Neurochem Res       Date:  2012-04-10       Impact factor: 3.996

6.  Small loci of astroglial glutamine synthetase deficiency in the postnatal brain cause epileptic seizures and impaired functional connectivity.

Authors:  Maxwell G Farina; Mani Ratnesh S Sandhu; Maxime Parent; Basavaraju G Sanganahalli; Matthew Derbin; Roni Dhaher; Helen Wang; Hitten P Zaveri; Yun Zhou; Niels C Danbolt; Fahmeed Hyder; Tore Eid
Journal:  Epilepsia       Date:  2021-09-18       Impact factor: 5.864

7.  Glutamine synthetase stability and subcellular distribution in astrocytes are regulated by γ-aminobutyric type B receptors.

Authors:  Deborah Huyghe; Yasuko Nakamura; Miho Terunuma; Mathilde Faideau; Philip Haydon; Menelas N Pangalos; Stephen J Moss
Journal:  J Biol Chem       Date:  2014-08-29       Impact factor: 5.157

Review 8.  NAD+ homeostasis in human health and disease.

Authors:  Rubén Zapata-Pérez; Ronald J A Wanders; Clara D M van Karnebeek; Riekelt H Houtkooper
Journal:  EMBO Mol Med       Date:  2021-05-27       Impact factor: 12.137

9.  Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.

Authors:  Johannes Häberle; Noora Shahbeck; Khalid Ibrahim; Bernhard Schmitt; Ianina Scheer; Ruth O'Gorman; Farrukh A Chaudhry; Tawfeg Ben-Omran
Journal:  Orphanet J Rare Dis       Date:  2012-07-25       Impact factor: 4.123

10.  Proteomic differences in the hippocampus and cortex of epilepsy brain tissue.

Authors:  Geoffrey Pires; Dominique Leitner; Eleanor Drummond; Evgeny Kanshin; Shruti Nayak; Manor Askenazi; Arline Faustin; Daniel Friedman; Ludovic Debure; Beatrix Ueberheide; Thomas Wisniewski; Orrin Devinsky
Journal:  Brain Commun       Date:  2021-03-09
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