Results 71 to 80 of about 28,100 (214)
Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System [PDF]
, 2011 The purpose of this chapter is to discuss the role of the fragile X mental retardation protein (FMRP) in the spinal sensory system and the potential for use of the mouse model of fragile X syndrome to better understand some aspects of the human syndrome as well as advance knowledge in other areas of investigation, such as pain amplification, an ...
Theodore J, Price +1 more
openaire +2 more sources
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P [PDF]
Biochemical Journal, 1999 The absence of fragile-X mental-retardation protein (FMRP) results in fragile-X syndrome. Two other fragile-X-related (FXR) proteins have been described, FXR1P and FXR2P, which are both very similar in amino acid sequence to FMRP. Interaction between the three proteins as well as with themselves has been demonstrated.
F. Tamanini +6 more
openaire +3 more sources
Frontiers in Synaptic Neuroscience, 2018 Dopamine receptors and related signaling pathways have long been implicated in pathophysiology and treatment of mental illnesses, including schizophrenia and bipolar disorder.
Jivan Khlghatyan +3 more
doaj +1 more source
The molecular basis of the Fragile X syndrome
Journal of Experimental and Molecular Biology, 2023 This analysis aimed to clarify the molecular basis of fragile X syndrome and explain the role of genetic material in the genetic disease's development and treatment. Fragile X syndrome is an X-linked mutation inheritance disorder.
Harem Othman smail
doaj +1 more source
Cellular stress-induced up-regulation of FMRP promotes cell survival by modulating PI3K-Akt phosphorylation cascades [PDF]
, 2011 Background Fragile X syndrome (FXS), the most commonly inherited mental retardation and single gene cause of autistic spectrum disorder, occurs when the Fmr1 gene is mutated.
Se Jeon +6 more
core +2 more sources
Neuropathology, Volume 46, Issue 2, April 2026.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
Ayako Shioya +5 more
wiley +1 more source
Fragile X-Associated Neuropsychiatric Disorders (FXAND)
Frontiers in Psychiatry, 2018 Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman +11 more
doaj +1 more source
Communications Biology, 2021 Shen et al. propose a mechanism for the metastasis of hepatocellular carcinoma (HCC) cells through the localization and translation modulation of the STAT3 oncogene by fragile X mental retardation protein (FMRP).
Zhifa Shen +10 more
doaj +1 more source
Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. [PDF]
, 2016 Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn ...
Gane, Louise W +8 more
core +3 more sources
The Journal of Physiology, Volume 604, Issue 7, Page 2845-2866, 1 April 2026.Abstract figure legend Low‐dose lithium supplementation in ovariectomized mice enhances skeletal muscle contractility (isometric force and fatigue resistance), SERCA function and promotes favourable transcriptional reprogramming, while increasing bone density and modestly improving insulin sensitivity.
Bianca M. Marcella +8 more
wiley +1 more source