Literature DB >> 33159466

A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.

Ryan S Dhindsa1,2, Anthony W Zoghbi1,3, Daniel K Krizay1,4, Chirag Vasavda5, David B Goldstein1,4.   

Abstract

Advances in genetic discoveries have created substantial opportunities for precision medicine in neurodevelopmental disorders. Many of the genes implicated in these diseases encode proteins that regulate gene expression, such as chromatin-associated proteins, transcription factors, and RNA-binding proteins. The identification of targeted therapeutics for individuals carrying mutations in these genes remains a challenge, as the encoded proteins can theoretically regulate thousands of downstream targets in a considerable number of cell types. Here, we propose the application of a drug discovery approach originally developed for cancer called "transcriptome reversal" for these neurodevelopmental disorders. This approach attempts to identify compounds that reverse gene-expression signatures associated with disease states. ANN NEUROL 2021;89:199-211.
© 2020 American Neurological Association.

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Year:  2020        PMID: 33159466      PMCID: PMC8122510          DOI: 10.1002/ana.25950

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


  65 in total

1.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

2.  Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Authors:  Nuria C Bramswig; Hermann-Josef Lüdecke; Fadi F Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H Elcioglu; Catharine Freyer; Erica H Gerkes; Yasemin Kendir Demirkol; Kelly G Knupp; Alma Kuechler; Yun Li; Daniel H Lowenstein; Jacques L Michaud; Kristen Park; Alexander P A Stegmann; Hermine E Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M Strom; Tjitske Kleefstra; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2017-04-09       Impact factor: 4.132

Review 3.  Transcriptional regulation and its misregulation in disease.

Authors:  Tong Ihn Lee; Richard A Young
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582

4.  Integrating single-cell transcriptomic data across different conditions, technologies, and species.

Authors:  Andrew Butler; Paul Hoffman; Peter Smibert; Efthymia Papalexi; Rahul Satija
Journal:  Nat Biotechnol       Date:  2018-04-02       Impact factor: 54.908

5.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

6.  Cerebral organoids model human brain development and microcephaly.

Authors:  Madeline A Lancaster; Magdalena Renner; Carol-Anne Martin; Daniel Wenzel; Louise S Bicknell; Matthew E Hurles; Tessa Homfray; Josef M Penninger; Andrew P Jackson; Juergen A Knoblich
Journal:  Nature       Date:  2013-08-28       Impact factor: 49.962

7.  Quantitative assessment of protein activity in orphan tissues and single cells using the metaVIPER algorithm.

Authors:  Hongxu Ding; Eugene F Douglass; Adam M Sonabend; Angeliki Mela; Sayantan Bose; Christian Gonzalez; Peter D Canoll; Peter A Sims; Mariano J Alvarez; Andrea Califano
Journal:  Nat Commun       Date:  2018-04-16       Impact factor: 14.919

8.  A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target.

Authors:  Prashant K Srivastava; Jonathan van Eyll; Patrice Godard; Manuela Mazzuferi; Andree Delahaye-Duriez; Juliette Van Steenwinckel; Pierre Gressens; Benedicte Danis; Catherine Vandenplas; Patrik Foerch; Karine Leclercq; Georges Mairet-Coello; Alvaro Cardenas; Frederic Vanclef; Liisi Laaniste; Isabelle Niespodziany; James Keaney; Julien Gasser; Gaelle Gillet; Kirill Shkura; Seon-Ah Chong; Jacques Behmoaras; Irena Kadiu; Enrico Petretto; Rafal M Kaminski; Michael R Johnson
Journal:  Nat Commun       Date:  2018-09-03       Impact factor: 14.919

9.  Large-scale discovery of novel genetic causes of developmental disorders.

Authors: 
Journal:  Nature       Date:  2014-12-24       Impact factor: 69.504

Review 10.  Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Authors:  Stephen Shovlin; Daniela Tropea
Journal:  Orphanet J Rare Dis       Date:  2018-07-11       Impact factor: 4.123

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  6 in total

1.  Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.

Authors:  Zhixiong Ma; Muriel Eaton; Yushuang Liu; Jingliang Zhang; Xiaoling Chen; Xinyu Tu; Yiqiang Shi; Zhefu Que; Kyle Wettschurack; Zaiyang Zhang; Riyi Shi; Yueyi Chen; Adam Kimbrough; Nadia A Lanman; Leah Schust; Zhuo Huang; Yang Yang
Journal:  Neurobiol Dis       Date:  2022-03-14       Impact factor: 7.046

2.  How can same-gene mutations promote both cancer and developmental disorders?

Authors:  Ruth Nussinov; Chung-Jung Tsai; Hyunbum Jang
Journal:  Sci Adv       Date:  2022-01-14       Impact factor: 14.136

3.  Identification of the NRF2 transcriptional network as a therapeutic target for trigeminal neuropathic pain.

Authors:  Chirag Vasavda; Risheng Xu; Jason Liew; Ruchita Kothari; Ryan S Dhindsa; Evan R Semenza; Bindu D Paul; Dustin P Green; Mark F Sabbagh; Joseph Y Shin; Wuyang Yang; Adele M Snowman; Lauren K Albacarys; Abhay Moghekar; Carlos A Pardo-Villamizar; Mark Luciano; Judy Huang; Chetan Bettegowda; Shawn G Kwatra; Xinzhong Dong; Michael Lim; Solomon H Snyder
Journal:  Sci Adv       Date:  2022-08-03       Impact factor: 14.957

4.  Deciphering COVID-19 host transcriptomic complexity and variations for therapeutic discovery against new variants.

Authors:  Jing Xing; Rama Shankar; Meehyun Ko; Keke Zhang; Sulin Zhang; Aleksandra Drelich; Shreya Paithankar; Eugene Chekalin; Mei-Sze Chua; Surender Rajasekaran; Chien-Te Kent Tseng; Mingyue Zheng; Seungtaek Kim; Bin Chen
Journal:  iScience       Date:  2022-09-03

5.  Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Authors:  Dimitrios Vitsios; Ryan S Dhindsa; Dorota Matelska; Jonathan Mitchell; Xuequing Zou; Joshua Armenia; Fengyuan Hu; Quanli Wang; Ben Sidders; Andrew R Harper; Slavé Petrovski
Journal:  Sci Adv       Date:  2022-08-26       Impact factor: 14.957

Review 6.  Making Sense of Patient-Derived iPSCs, Transdifferentiated Neurons, Olfactory Neuronal Cells, and Cerebral Organoids as Models for Psychiatric Disorders.

Authors:  Jakob Unterholzner; Vincent Millischer; Christoph Wotawa; Akira Sawa; Rupert Lanzenberger
Journal:  Int J Neuropsychopharmacol       Date:  2021-10-23       Impact factor: 5.176

  6 in total

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