Literature DB >> 30937933

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.

Andrew B Stergachis1, Jonai Pujol-Giménez2,3, Gergely Gyimesi2,3, Daniel Fuster2,3, Giusppe Albano2,3, Marina Troxler2,3, Jonathan Picker4, Paul A Rosenberg5, Ann Bergin5, Jurriaan Peters5, Christelle Moufawad El Achkar5, Chellamani Harini5, Shannon Manzi6, Alexander Rotenberg5, Matthias A Hediger2,3, Lance H Rodan4,5.   

Abstract

SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. We demonstrate that all 3 variants implicated in this condition localize to the trimerization domain of SLC1A2, and that the Leu85Pro variant acts via a dominant negative mechanism to reduce, but not eliminate, wild-type SLC1A2 protein localization and function. Finally, we demonstrate that treatment of a 20-month-old SLC1A2-related epilepsy patient with the SLC1A2-modulating agent ceftriaxone did not result in a significant change in daily spasm count. ANN NEUROL 2019;85:921-926.
© 2019 American Neurological Association.

Entities:  

Year:  2019        PMID： 30937933      PMCID： PMC6800210          DOI： 10.1002/ana.25477

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

1.  De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Authors:  Ilaria Guella; Marna B McKenzie; Daniel M Evans; Sarah E Buerki; Eric B Toyota; Margot I Van Allen; Mohnish Suri; Frances Elmslie; Marleen E H Simon; Koen L I van Gassen; Delphine Héron; Boris Keren; Caroline Nava; Mary B Connolly; Michelle Demos; Matthew J Farrer
Journal:  Am J Hum Genet       Date:  2017-08-03       Impact factor: 11.025

2.  Conditional deletion of the glutamate transporter GLT-1 reveals that astrocytic GLT-1 protects against fatal epilepsy while neuronal GLT-1 contributes significantly to glutamate uptake into synaptosomes.

Authors:  Geraldine T Petr; Yan Sun; Natalie M Frederick; Yun Zhou; Sameer C Dhamne; Mustafa Q Hameed; Clive Miranda; Edward A Bedoya; Kathryn D Fischer; Wencke Armsen; Jianlin Wang; Niels C Danbolt; Alexander Rotenberg; Chiye J Aoki; Paul A Rosenberg
Journal:  J Neurosci       Date:  2015-04-01       Impact factor: 6.167

3.  Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Authors:  Matias Wagner; Mirjana Gusic; Roman Günthner; Bader Alhaddad; Reka Kovacs-Nagy; Christine Makowski; Friedrich Baumeister; Tim Strom; Thomas Meitinger; Holger Prokisch; Saskia B Wortmann
Journal:  Neuropediatrics       Date:  2017-09-15       Impact factor: 1.947

4.  De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

Review 5.  Excitatory amino acids as a final common pathway for neurologic disorders.

Authors:  S A Lipton; P A Rosenberg
Journal:  N Engl J Med       Date:  1994-03-03       Impact factor: 91.245

6.  cAMP response element-binding protein (CREB) and nuclear factor κB mediate the tamoxifen-induced up-regulation of glutamate transporter 1 (GLT-1) in rat astrocytes.

Authors:  Pratap Karki; Anton Webb; Keisha Smith; Kyuwon Lee; Deok-Soo Son; Michael Aschner; Eunsook Lee
Journal:  J Biol Chem       Date:  2013-08-16       Impact factor: 5.157

7.  Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression.

Authors:  Jeffrey D Rothstein; Sarjubhai Patel; Melissa R Regan; Christine Haenggeli; Yanhua H Huang; Dwight E Bergles; Lin Jin; Margaret Dykes Hoberg; Svetlana Vidensky; Dorothy S Chung; Shuy Vang Toan; Lucie I Bruijn; Zao-Zhong Su; Pankaj Gupta; Paul B Fisher
Journal:  Nature       Date:  2005-01-06       Impact factor: 49.962

8.  Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.

Authors:  S Xu; J C Han; A Morales; C M Menzie; K Williams; Y-S Fan
Journal:  Cytogenet Genome Res       Date:  2008-12-18       Impact factor: 1.636

9.  Riluzole elevates GLT-1 activity and levels in striatal astrocytes.

Authors:  Marica Carbone; Susan Duty; Marcus Rattray
Journal:  Neurochem Int       Date:  2011-11-06       Impact factor: 3.921

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
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  8 in total

Review 1.  The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.

Authors:  Sahar Alijanpour; Mohammad Miryounesi; Soudeh Ghafouri-Fard
Journal:  Metab Brain Dis       Date:  2022-09-29       Impact factor: 3.655

2.  Neurobiology, Functions, and Relevance of Excitatory Amino Acid Transporters (EAATs) to Treatment of Refractory Epilepsy.

Authors:  Aleksey V Zaitsev; Ilya V Smolensky; Pascal Jorratt; Saak V Ovsepian
Journal:  CNS Drugs       Date:  2020-11       Impact factor: 5.749

Review 3.  Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Authors:  Shreyas Bhat; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Pharmacol Ther       Date:  2020-12-10       Impact factor: 12.310

Review 4.  Role of glutamate excitotoxicity and glutamate transporter EAAT2 in epilepsy: Opportunities for novel therapeutics development.

Authors:  Jennifer Leigh Green; Wagner Ferreira Dos Santos; Andréia Cristina Karklin Fontana
Journal:  Biochem Pharmacol       Date:  2021-09-24       Impact factor: 5.858

5.  Loss of glutamate transporter eaat2a leads to aberrant neuronal excitability, recurrent epileptic seizures, and basal hypoactivity.

Authors:  Adriana L Hotz; Ahmed Jamali; Nicolas N Rieser; Stephanie Niklaus; Ecem Aydin; Sverre Myren-Svelstad; Laetitia Lalla; Nathalie Jurisch-Yaksi; Emre Yaksi; Stephan C F Neuhauss
Journal:  Glia       Date:  2021-10-30       Impact factor: 8.073

Review 6.  Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Authors:  Raquel Yahyaoui; Javier Pérez-Frías
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923

7.  Structural Aspects of Photopharmacology: Insight into the Binding of Photoswitchable and Photocaged Inhibitors to the Glutamate Transporter Homologue.

Authors:  Valentina Arkhipova; Haigen Fu; Mark W H Hoorens; Gianluca Trinco; Lucien N Lameijer; Egor Marin; Ben L Feringa; Gerrit J Poelarends; Wiktor Szymanski; Dirk J Slotboom; Albert Guskov
Journal:  J Am Chem Soc       Date:  2021-01-15       Impact factor: 15.419

Review 8.  Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.

Authors:  Claudia Alleva; Jan-Philipp Machtens; Daniel Kortzak; Ingo Weyand; Christoph Fahlke
Journal:  Neurochem Res       Date:  2021-02-15       Impact factor: 3.996
  8 in total

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