Results 21 to 30 of about 19,643 (207)

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System. [PDF]

Neuropathology
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Shioya A, Ishii K, Sato T, Noguchi M, Tamaoka A, Saito Y.   +5 more
europepmc   +2 more sources

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells, 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 leading to
F. Tassone, D. Protic, E. Allen, Alison D. Archibald, A. Baud, Ted W Brown, D. Budimirovic, Jonathan Cohen, Brett D Dufour, R. Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J Grudzien, Deborah A. Hall, D. Hessl, Abigail L Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, J. Klusek, R. Kooy, C. Kraan, Cecilia Laterza, Andrea P Lee, Karen Lipworth, M. Losh, Danuta Z Loesch, R. Lozano, Marsha R Mailick, Apostolos Manolopoulos, V. Martínez‐Cerdeño, Yingratana A McLennan, Robert M. Miller, F. A. M. Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, M. Raspa, Susan M. Rivera, K. Shelly, Peter K. Todd, K. Tutak, J. Y. Wang, A. Wheeler, T. Winarni, Marwa Zafarullah, R. Hagerman   +45 more
semanticscholar   +1 more source

Antisense oligonucleotide rescue of CGG expansion–dependent FMR1 mis-splicing in fragile X syndrome restores FMRP

Proceedings of the National Academy of Sciences of the United States of America, 2023
Significance White blood cells from over 70% of fragile X syndrome (FXS) individuals express an aberrantly spliced FMR1 transcript isoform called FMR1-217 RNA. This isoform is also expressed in the FXS postmortem brain.
Sneha Shah, Kevin J. Sharp, Sithara Raju Ponny, Jonathan Lee, J. Watts, E. Berry-Kravis, J. Richter   +6 more
semanticscholar   +1 more source

Dynamic FMR1 granule phase switch instructed by m6A modification contributes to maternal RNA decay

Nature Communications, 2022
Maternal RNA degradation is critical for embryogenesis and is tightly controlled by maternal RNA-binding proteins. Fragile X mental-retardation protein (FMR1) binds target mRNAs to form ribonucleoprotein (RNP) complexes/granules that control various ...
Guoqiang Zhang, Yongru Xu, Xiaona Wang, Yuanxiang Zhu, Liangliang Wang, Wenxin Zhang, Yiru Wang, Yajie Gao, Xuna Wu, Ying Cheng, Qinmiao Sun, Dahua Chen   +11 more
semanticscholar   +1 more source

Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila

EMBO Journal, 2021
N6‐methyladenosine (m6A) regulates a variety of physiological processes through modulation of RNA metabolism. This modification is particularly enriched in the nervous system of several species, and its dysregulation has been associated with ...
Lina Worpenberg, Chiara Paolantoni, S. Longhi, Miriam M Mulorz, Tina Lenče, H. Wessels, E. Dassi, G. Aiello, F. R. Sutandy, Marion Scheibe, Raghu R. Edupuganti, A. Busch, M. Möckel, M. Vermeulen, F. Butter, J. König, M. Notarangelo, U. Ohler, C. Dieterich, A. Quattrone, A. Soldano, Jean-Yves Roignant   +21 more
semanticscholar   +1 more source

Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome

Molecular Autism, 2022
Background Fragile X syndrome (FXS), the most common genetic cause of autism spectrum disorder and intellectual disability, is caused by the lack of fragile X mental retardation protein (FMRP) expression. FMRP is an mRNA binding protein with functions in
M. Kalinowska, Mathijs B. van der Lei, Michael Kitiashvili, Maggie Mamcarz, Mauricio M. Oliveira, Francesco Longo, E. Klann   +6 more
semanticscholar   +1 more source

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Biomolecules, 2021
Among the inherited causes of intellectual disability and autism, Fragile X syndrome (FXS) is the most frequent form, for which there is currently no cure. In most FXS patients, the FMR1 gene is epigenetically inactivated following the expansion over 200
Veronica Nobile, C. Pucci, P. Chiurazzi, G. Neri, E. Tabolacci   +4 more
semanticscholar   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +2 more sources

FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner

Neurobiology of Disease, 2021
Fragile X syndrome (FXS) is the most common form of intellectual disability that arises from the dysfunction of a single gene—Fmr1. The main neuroanatomical correlate of FXS is elevated dendritic spine density on cortical pyramidal neurons, which has ...
Katherine M. Bland, Adam Aharon, Eden L. Widener, M. Irene Song, Zachary O. Casey, Yi Zuo, George S. Vidal   +6 more
doaj   +1 more source

The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls

Current Research in Toxicology, 2020
Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life ...
Lauren Matelski, Kimberly P. Keil Stietz, Sunjay Sethi, Sandra L. Taylor, Judy Van de Water, Pamela J. Lein   +5 more
doaj   +1 more source