Results 71 to 80 of about 109,973,714 (148)

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome

Frontiers in Cellular Neuroscience
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a monogenic cause of autism spectrum disorders. Deficiencies in the fragile X messenger ribonucleoprotein, encoded by the FMR1 gene, lead to various anatomical and ...
Shu-Yuan Bai, Shu-Yuan Bai, De-Yang Zeng, De-Yang Zeng, Ming Ouyang, Ming Ouyang, Yan Zeng, Yan Zeng, Wei Tan, Wei Tan, Lang Xu, Lang Xu   +11 more
doaj   +1 more source

FMRP‐Mediated Proteasome Regulation: A Novel Mechanism in ALS Pathology

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Schematic model of TDP‐43/TNKS‐mediated proteasome regulation in WT, FMRP‐depleted, and TDP‐43A315T‐Tg ALS neurons. In WT neurons, cytoplasmic TDP‐43 partially sequesters TNKS, maintaining balanced PI31 ribosylation and proteasome activity. FMRP depletion promotes nuclear translocation of TDP‐43, enhances TNKS/PI31 interaction, and increases axonal ...
Pritha Majumder, Asmar Ahsan, Pitchapa Bubphachat, Khadiza Akter, Jeffrey K. Huang, Chi‐Chen Sarah Huang   +5 more
wiley   +1 more source

RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]

, 2009
Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core   +1 more source

Expression analysis of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene in FMR1-associated disorders [PDF]

, 2023
The human fragile X messenger ribonucleoprotein 1 (FMR1) gene contains an expansion-prone trinucleotide CGG repeat that alters gene expression, giving rise to various central nervous system (CNS)-centric disorders.
Randol, Jamie Leah
core   +1 more source

IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats

Nature Communications
Mutant mRNA of the fragile X messenger ribonucleoprotein 1 gene (FMR1) containing expanded CGG repeats in its 5’UTR is a primary cause of fragile X premutation associated conditions.
Anna Baud, Damini Saha, Tomasz Skrzypczak, Izabela Broniarek, Daria Niewiadomska, Wojciech J. Szlachcic, Malgorzata Borowiak, Rajani Kanth Gudipati, Krzysztof Sobczak   +8 more
doaj   +1 more source

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally.
Ikechukwu Innocent Mbachu, Randi Hagerman, Chioma N. P. Mbachu   +2 more
core   +1 more source

Xp54 and related (DDX6-like) RNA helicases : roles in messenger RNP assembly, translation regulation and RNA degradation [PDF]

, 2006
The DEAD-box RNA helicase Xp54 is an integral component of the messenger ribonucleoprotein (mRNP) particles of Xenopus oocytes. In oocytes, several abundant proteins bind pre-mRNA transcripts to modulate nuclear export, RNA stability and translational ...
Weston, A, Sommerville, John
core   +1 more source

A Decade of Molecular Studies of Fragile X Syndrome

, 2002
▪ Abstract  Fragile X syndrome is one of the most common forms of inherited mental retardation. In most cases the disease is caused by the methylation-induced transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene that occurs as a ...
Stephen T. Warren, William T. O'Donnell
core   +1 more source

A rapid and dynamic role for FMRP in the plasticity of adult neurons

Nature Communications
Fragile X syndrome is a neurodevelopmental disorder caused by silencing Fragile X messenger ribonucleoprotein 1 (Fmr1), which encodes the FMRP RNA-binding protein.
Daniel G. Gundermann, Seana Lymer, Jennifer Lennon, Justin Blau   +3 more
doaj   +1 more source