Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Dejan B, Budimirovic"'
Autor:
Maja Stojkovic, Milan Petrovic, Maria Capovilla, Sara Milojevic, Vedrana Makevic, Dejan B. Budimirovic, Louise Corscadden, Shuhan He, Dragana Protic
Publikováno v:
Biology, Vol 13, Iss 6, p 432 (2024)
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with
Externí odkaz:
https://doaj.org/article/1af7cf936b0f46f084fd0eb8e156dd9c
Autor:
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Publikováno v:
Cells, Vol 12, Iss 18, p 2330 (2023)
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms lead
Externí odkaz:
https://doaj.org/article/a0b6f75a833d4184b35d72147f86dffc
Autor:
Elizabeth Berry-Kravis, Robyn A. Filipink, Richard E. Frye, Sailaja Golla, Stephanie M. Morris, Howard Andrews, Tse-Hwei Choo, Walter E. Kaufmann, The FORWARD Consortium, Milen Velinov, Amy L. Talboy, Stephanie L. Sherman, Marcy Schuster, Nicole Tartaglia, Dejan B. Budimirovic, Deborah Barbouth, Amy Lightbody, Allan Reiss, Carol M. Delahunty, Randi J. Hagerman, David Hessl, Craig A. Erickson, Gary Feldman, Jonathan D. Picker, Ave M. Lachiewicz, Holly K. Harris, Amy Esler, Patricia A. Evans, Mary Ann Morris, Barbara A. Haas-Givler, Andrea L. Gropman, Ryan S. Uy, Reymundo Lozano, Carrie Buchanan, Jean A. Frazier
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this stu
Externí odkaz:
https://doaj.org/article/2144dddb74154f51a1bf96b7016b2719
Autor:
Dejan B. Budimirovic, Kelli C. Dominick, Lidia V. Gabis, Maxwell Adams, Mathews Adera, Linda Huang, Pamela Ventola, Nicole R. Tartaglia, Elizabeth Berry-Kravis
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Background: Fragile X syndrome (FXS), the most common single-gene cause of intellectual disability and autism spectrum disorder (ASD), is caused by a >200-trinucleotide repeat expansion in the 5’ untranslated region of the fragile X mental retardat
Externí odkaz:
https://doaj.org/article/02d564a267ff451b98ef73a0b2de0a64
Publikováno v:
Brain Sciences, Vol 12, Iss 10, p 1276 (2022)
This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Externí odkaz:
https://doaj.org/article/3971ccedf4b2489a8fe1b093b4085162
Autor:
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 1935 (2022)
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. Children with FXS are commonly co-dia
Externí odkaz:
https://doaj.org/article/763acd7f25fb47e4a3cac84e9528bccc
Autor:
James Robert Brašić, Jack Alexander Goodman, Ayon Nandi, David S. Russell, Danna Jennings, Olivier Barret, Samuel D. Martin, Keith Slifer, Thomas Sedlak, Anil Kumar Mathur, John P. Seibyl, Elizabeth M. Berry-Kravis, Dean F. Wong, Dejan B. Budimirovic
Publikováno v:
Brain Sciences, Vol 12, Iss 3, p 314 (2022)
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein (FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in the pathogenesis of fragile X syndrome (FXS), the most commonly know
Externí odkaz:
https://doaj.org/article/a1c24f10d046468782c1830dbc4bd8a5
Autor:
Dejan B. Budimirovic, Elizabeth Berry-Kravis, Craig A. Erickson, Scott S. Hall, David Hessl, Allan L. Reiss, Margaret K. King, Leonard Abbeduto, Walter E. Kaufmann
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 9, Iss 1, Pp 1-36 (2017)
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted
Externí odkaz:
https://doaj.org/article/0fef9f0727e54e7ca2fc003359a535e7
Autor:
James Robert Brašić, Ayon Nandi, David S. Russell, Danna Jennings, Olivier Barret, Samuel D. Martin, Keith Slifer, Thomas Sedlak, John P. Seibyl, Dean F. Wong, Dejan B. Budimirovic
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6, p 2863 (2021)
Multiple lines of evidence suggest that dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) plays a role in the pathogenesis of autism spectrum disorder (ASD). Yet animal and human investigations of mGluR5 expression provide conflic
Externí odkaz:
https://doaj.org/article/fc7b9ffbde4742e4b44e2c7c6d6f9024
Autor:
James R. Brašić, Ayon Nandi, David S. Russell, Danna Jennings, Olivier Barret, Anil Mathur, Keith Slifer, Thomas Sedlak, Samuel D. Martin, Zabecca Brinson, Pankhuri Vyas, John P. Seibyl, Elizabeth M. Berry-Kravis, Dean F. Wong, Dejan B. Budimirovic
Publikováno v:
Brain Sciences, Vol 10, Iss 12, p 899 (2020)
Glutamatergic receptor expression is mostly unknown in adults with fragile X syndrome (FXS). Favorable behavioral effects of negative allosteric modulators (NAMs) of the metabotropic glutamate receptor subtype 5 (mGluR5) in fmr1 knockout (KO) mouse m
Externí odkaz:
https://doaj.org/article/db437a126ef0462aaf2bf7f51b8ed8e6