FMR1 gene

The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive.

10p vihagrid 30-01-2023 9 3   Download

Lack of functional Fragile X mental retardation protein (FMRP) is the pri-mary cause of the Fragile-mental retardation syndrome in humans. In most cases, the disease results from transcriptional silencing of fragile mental retardation gene 1, fmr1, which encodes FMRP. However, a single mis-sense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.

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A series of relatively short (GCC)ntriplet repeats (n¼3–30) located within regulatory regions of many mammalian genes may be considered as puta-tive cis-acting transcriptional elements (GCC-elements). Fragile X-mental retardation syndrome is caused by an expansion of (GCC)ntriplet repeats within the 5¢-untranslated region of the human fragile X-mental retarda-tion 1 (FMR1) gene.

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Huang, Yen and Lu (Chapter 18) review the role of SPECT in the diagnosis of idiopathic Parkinson’s disease and its differentiation from other conditions characterised by parkinsonisms such as dementia with Lewy Bodies (DLB) and vascular parkinsonism. Accurate diagnosis is clearly critical for treatment and prognosis, and the authors provide a very useful overview of recent developments in dopamine transporter imaging which have led to important advances in this area.

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