Výsledky vyhledávání - "Dalyir L. Pretto"

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

Autor: Kirin Basuta, Flora Tassone, Louise W. Gane, Andrea Schneider, Dalyir L. Pretto, Randi J Hagerman, Jonathan Polussa, Bryan K. Woodruff

Publikováno v: American journal of medical genetics. Part A. (9)

Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa32c3df62f694587b7a434959c70de
https://pubmed.ncbi.nlm.nih.gov/25920745

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Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion

Autor: Susan Hulsizer, Paul J. Hagerman, Isaac N. Pessah, Flora Tassone, Kyung Ho Kim, Dalyir L. Pretto, Yanjun Cui, Zhengyu Cao

Publikováno v: The Journal of biological chemistry. 288(19)

FMR1 CGG expansion repeats in the premutation range have not been linked to astrocyte pathophysiology.Premutation cortical astrocytes display decreased Glu transporter expression/activity and enhanced asynchronous Ca(2+) oscillations.Glu transport an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::424ba17426f9a5b1e76fd69607a1c2f7
https://pubmed.ncbi.nlm.nih.gov/23553633

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