Results 101 to 110 of about 28,384 (213)

Therapeutic Targets and Translational Endpoints in Fragile X Syndrome [PDF]

, 2014
__Abstract__ Fragile X syndrome is the most common inherited cause of intellectual disability. It is more common in boys (1 in 4000) than girls (1 in 6000).
Esch, C.E.F. (Celine) de
core  

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources

Modulators of Diacylglycerol Kinase Activity: A Review of Advances and Challenges

Medicinal Research Reviews, Volume 46, Issue 1, Page 149-175, January 2026.
ABSTRACT Catalyzing the conversion of diacylglycerol (DAG) in phosphatidic acid (PA), diacylglycerol kinases (DGKs) play a pivotal role in all the physiological processes modulated by these two bioactive lipids, such as lipid metabolism and immune regulation.
Luisa Racca, Gianluca Baldanzi, Alberto Massarotti   +2 more
wiley   +1 more source

Fragile X mental retardation protein levels are decreased in major psychiatric disorders [PDF]

Schizophrenia Research, 2010
In individuals with fragile X syndrome (FXS), there is a silencing of the fragile X mental retardation (FMR1) gene, usually due to an expansion of a CGG repeat in the 5’ untranslated region (Oostra and Willemsen, 2009). The subsequent loss of the FMR1 gene product, fragile X mental retardation protein (FMRP), an RNA-binding protein that travels between
S Hossein, Fatemi, Rachel E, Kneeland, Stephanie B, Liesch, Timothy D, Folsom   +3 more
openaire   +2 more sources

Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation

ASN Neuro, 2014
The (CGG)n-repeat in the 5′-untranslated region of the fragile X mental retardation gene ( FMR1 ) gene is polymorphic and may become unstable on transmission to the next generation.
Mei Qin, Tianjian Huang, Zhonghua Liu, Michael Kader, Thomas Burlin, Zengyan Xia, Zachary Zeidler, Renate K. Hukema, Carolyn B. Smith   +8 more
doaj   +1 more source

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Neurobiology of Disease, 2006
It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel the ...
Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy   +8 more
doaj   +1 more source

Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype [PDF]

, 2011
Fragile X syndrome (FXS), the most common form of hereditary mental retardation, is caused by a loss-of-function mutation of the Fmr1 gene, which encodes fragile X mental retardation protein (FMRP).
Antar, Arikkath, August B. Smit, Bagni, Bamji, Bassell, Braun, Brown, Bureau, Carl D. Holmgren, Castets, Christie, Comery, Costa-Mattioli, Desai, Diana C. Rotaru, Dictenberg, Dutch-Belgian Fragile X Consortium, Frey, Galvez, Garber, Georgopoulou, Gibson, Giuffrida, Harlow, Heidi de Wit, Huibert D. Mansvelder, Irwin, Irwin, Ivanco, Jianru Stahl-Zeng, Joke Wortel, Ka Wan Li, Kelley, Klychnikov, Koukoui, Laux, Li, Li, Maarten Loos, Mamalaki, Mann, Massey, Meredith, Meredith, Meredith, Nimchinsky, Nosyreva, Okuda, Oleg I. Klychnikov, Patricia Klemmer, Pfeiffer, Pilpel, Reeve, Rhiannon M. Meredith, Roel C. van der Schors, Roxas, Sabine Spijker, Tessier, Tusher, Van den Oever, Volk, Wilson, Zhang   +63 more
core   +2 more sources

Exploring Autophagy Inducing Molecules: Targeting Diverse Pathways in Alzheimer's Disease Management

Medicinal Research Reviews, Volume 46, Issue 1, Page 272-298, January 2026.
ABSTRACT Neurodegenerative disorders, including Alzheimer's disease (AD), impose a significant burden on society due to their progressive nature and the associated healthcare costs. Autophagy, a vital cellular degradation process, has emerged as a promising therapeutic target in these disorders.
Baljinder Singh, Shubham Mahajan, Sadikalmahdi Abdella, Rehan Khan, Sanjay Garg   +4 more
wiley   +1 more source

Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila

Biology Open, 2012
Summary FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome.
Cristina Gareau, David Martel, Laetitia Coudert, Samia Mellaoui, Rachid Mazroui   +4 more
doaj   +1 more source

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. [PDF]

, 2019
BackgroundNumerous preclinical studies have supported the theory that enhanced activation of mGluR5 signaling, due to the absence or reduction of the FMR1 protein, contributes to cognitive and behavioral deficits in patients with fragile X syndrome (FXS).
Berry-Kravis, Elizabeth, Chin, Jamie, Crestodina, Crystal, Hagerman, Randi J, Harvey, Danielle, Hessl, David, Joshi, Reshma, Sansone, Stephanie   +7 more
core   +2 more sources