Results 71 to 80 of about 28,384 (213)
Hair root FMRP expression for screening of fragile X full mutation females [PDF]
Universa Medicina, 2011 The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito +5 more
doaj
Neural Plasticity, 2001 The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP).
Michael Gruss, Katharina Braun
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Experimental Physiology, EarlyView.Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann +3 more
wiley +1 more source
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
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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
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Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. [PDF]
PLoS ONE, 2010 Expansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome.
Melanie A Adams-Cioaba +8 more
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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
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
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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
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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
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