Literature DB >> 29369404

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

Marie-Laure Vuillaume1,2, Médéric Jeanne1,2, Li Xue3, Sophie Blesson1, Anne-Sophie Denommé-Pichon4,5, Servane Alirol2, Céline Brulard2,6, Estelle Colin4,5, Bertrand Isidor7,8, Brigitte Gilbert-Dussardier9,10, Sylvie Odent11,12, Philippe Parent13, Audrey Donnart14, Richard Redon14, Stéphane Bézieau7,15, Philippe Rondard3, Frédéric Laumonnier1,2, Annick Toutain1,2.   

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Year:  2018        PMID： 29369404     DOI： 10.1002/ana.25155

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


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  7 in total

1.  A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.

Authors:  Atsuhiro Miyazawa; Nobuhisa Kanahara; Masanobu Kogure; Ikuo Otsuka; Satoshi Okazaki; Yoshinori Watanabe; Fumiaki Yamasaki; Yusuke Nakata; Yasunori Oda; Akitoyo Hishimoto; Masaomi Iyo
Journal:  Mol Biol Rep       Date:  2021-11-29       Impact factor: 2.316

2.  Allosteric ligands control the activation of a class C GPCR heterodimer by acting at the transmembrane interface.

Authors:  Lei Liu; Zhiran Fan; Xavier Rovira; Li Xue; Salomé Roux; Isabelle Brabet; Mingxia Xin; Jean-Philippe Pin; Philippe Rondard; Jianfeng Liu
Journal:  Elife       Date:  2021-12-06       Impact factor: 8.140

Review 3.  The organizing principle of GABAB receptor complexes: Physiological and pharmacological implications.

Authors:  Thorsten Fritzius; Bernhard Bettler
Journal:  Basic Clin Pharmacol Toxicol       Date:  2019-05-15       Impact factor: 4.080

Review 4.  Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Authors:  Silvia Vidal; Clara Xiol; Ainhoa Pascual-Alonso; M O'Callaghan; Mercè Pineda; Judith Armstrong
Journal:  Int J Mol Sci       Date:  2019-08-12       Impact factor: 5.923

5.  Rearrangement of the transmembrane domain interfaces associated with the activation of a GPCR hetero-oligomer.

Authors:  Li Xue; Qian Sun; Han Zhao; Xavier Rovira; Siyu Gai; Qianwen He; Jean-Philippe Pin; Jianfeng Liu; Philippe Rondard
Journal:  Nat Commun       Date:  2019-06-24       Impact factor: 14.919

6.  Structural basis of the activation of a metabotropic GABA receptor.

Authors:  Hamidreza Shaye; Andrii Ishchenko; Jordy Homing Lam; Gye Won Han; Li Xue; Philippe Rondard; Jean-Philippe Pin; Vsevolod Katritch; Cornelius Gati; Vadim Cherezov
Journal:  Nature       Date:  2020-06-17       Impact factor: 49.962

Review 7.  Molecular mechanisms of metabotropic GABAB receptor function.

Authors:  Hamidreza Shaye; Benjamin Stauch; Cornelius Gati; Vadim Cherezov
Journal:  Sci Adv       Date:  2021-05-28       Impact factor: 14.136
  7 in total

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