Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel-Reference-Cited by-同舟云学术

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

Published:2017-12-13 Issue:420 Volume:9 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Umanah George K. E.¹²^ORCID,Pignatelli Marco³,Yin Xiling¹²^ORCID,Chen Rong¹²,Crawford Joshua⁴,Neifert Stewart¹²^ORCID,Scarffe Leslie¹²⁵^ORCID,Behensky Adam A.¹²^ORCID,Guiberson Noah¹²^ORCID,Chang Melissa⁵,Ma Erica⁶^ORCID,Kim Jin Wan⁷^ORCID,Castro Cibele C.¹⁸^ORCID,Mao Xiaobo¹²^ORCID,Chen Li¹²,Andrabi Shaida A.¹²^ORCID,Pletnikov Mikhail V.⁴,Pulver Ann E.⁴^ORCID,Avramopoulos Dimitrios⁴⁹^ORCID,Bonci Antonello³⁴,Valle David⁹¹⁰^ORCID,Dawson Ted M.¹²⁵¹¹^ORCID,Dawson Valina L.¹²⁵¹²^ORCID

Affiliation:

1. Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

2. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

3. Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA.

4. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

5. Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

6. School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

7. Department of Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

8. Department of Biochemistry, Institute for Basic Health Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

9. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

10. Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

11. Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

12. Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Abstract

Rare variants in the enzyme Thorase increase AMPAR expression, resulting in behavioral abnormalities in mice that can be rescued with Perampanel.

Funder

National Institute on Drug Abuse

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference29 articles.

1. The AAA+ ATPase Thorase Regulates AMPA Receptor-Dependent Synaptic Plasticity and Behavior

2. Abnormal Glutamate Receptor Expression in the Medial Temporal Lobe in Schizophrenia and Mood Disorders

3. Lamina-specific abnormalities of AMPA receptor trafficking and signaling molecule transcripts in the prefrontal cortex in schizophrenia

4. Chronic hyperdopaminergic activity of schizophrenia is associated with increased ΔFosB levels and cdk-5 signaling in the nucleus accumbens

5. Altered levels of glutamatergic receptors and Na+/K+ ATPase-α1 in the prefrontal cortex of subjects with schizophrenia

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