mGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS

Autor: Vipendra Kumar, Kwan Young Lee, Anirudh Acharya, Matthew S Babik, Catherine A Christian-Hinman, Justin S Rhodes, Nien-Pei Tsai

Publikováno v: EMBO Molecular Medicine, Vol 16, Iss 3, Pp 506-522 (2024)

Abstract Fragile X syndrome (FXS) is the leading cause of inherited autism and intellectual disabilities. Aberrant protein synthesis due to the loss of fragile X messenger ribonucleoprotein (FMRP) is the major defect in FXS, leading to a plethora of

Externí odkaz: https://doaj.org/article/b326dbbf75824151a5fca593719224e0

Specific EEG resting state biomarkers in FXS and ASD

Autor: Mélodie Proteau-Lemieux, Inga Sophia Knoth, Saeideh Davoudi, Charles-Olivier Martin, Anne-Marie Bélanger, Valérie Fontaine, Valérie Côté, Kristian Agbogba, Keely Vachon, Kerri Whitlock, Hazel Maridith Barlahan Biag, Angela John Thurman, Cory Rosenfelt, Flora Tassone, Julia Frei, Lucia Capano, Leonard Abbeduto, Sébastien Jacquemont, David Hessl, Randi Jenssen Hagerman, Andrea Schneider, Francois Bolduc, Evdokia Anagnostou, Sarah Lippe

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-17 (2024)

Abstract Background Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual di

Externí odkaz: https://doaj.org/article/e9da68f609ee45e5ac044e74d9c0b585

Developing improved outcome measures in FXS: Key stakeholder feedback

Autor: Kang, Sungeun, Jones, Angelina, Shaffer, Rebecca C., Erickson, Craig A., Schmitt, Lauren M.

Publikováno v: In Research in Developmental Disabilities June 2023 137

Longitudinal PET studies of mGluR5 in FXS using an FMR1 knockout mouse model

Autor: Afshar Sepideh, Lule Sevda, Yuan Gengyang, Qu Xiying, Pan Chuzhi, Whalen Michael, Brownell Anna-Liisa, Mody Maria

Publikováno v: Translational Neuroscience, Vol 13, Iss 1, Pp 80-92 (2022)

Fragile X syndrome (FXS) is a monogenic disorder characterized by intellectual disability and behavioral challenges. It is caused by aberrant methylation of the fragile X mental retardation 1 (FMR1) gene. Given the failure of clinical trials in FXS a

Externí odkaz: https://doaj.org/article/f5c57d59bdd8426bb7225e7b72fbefc2

Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype.

Autor: Fink, James J.^1,2 (AUTHOR), Delaney-Busch, Nathaniel² (AUTHOR), Dawes, Ryan³ (AUTHOR), Nanou, Evanthia³ (AUTHOR), Folts, Christopher³ (AUTHOR), Harikrishnan, Karthiayani^1,2 (AUTHOR), Hempel, Chris² (AUTHOR), Upadhyay, Hansini² (AUTHOR), Nguyen, Trinh² (AUTHOR), Shroff, Himali² (AUTHOR), Stoppel, David⁴ (AUTHOR), Ryan, Steven J.^1,2 (AUTHOR), Jacques, Jane^1,2 (AUTHOR), Grooms, Jennifer^1,2 (AUTHOR), Berry-Kravis, Elizabeth⁵ (AUTHOR), Bear, Mark F.⁴ (AUTHOR), Williams, Luis A.^1,2 (AUTHOR), Gerber, David^1,2 (AUTHOR), Bunnage, Mark³ (AUTHOR), Furey, Brinley³ (AUTHOR)

Publikováno v: Communications Biology. 11/6/2024, Vol. 7 Issue 1, p1-15. 15p.