Potential therapeutic interventions for fragile X syndrome
نویسندگان
چکیده
منابع مشابه
Progress toward therapeutic potential for AFQ056 in Fragile X syndrome.
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene cause of autism. It is caused by the lack of production of the Fragile X mental retardation protein (FMRP), resulting in cognitive deficits, hyperactivity, and autistic behaviors. Breakthrough advances in potential therapy for FXS followed the discovery that aberrant group 1 metabot...
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Fragile X syndrome (FXS) is the most common known genetic form of intellectual disability and autism spectrum disorders. FXS patients suffer a broad range of other neurological symptoms, including hyperactivity, disrupted circadian activity cycles, obsessive-compulsive behavior, and childhood seizures. The high incidence and devastating effects of this disease state make finding effective pharm...
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Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Since the discovery of the gene almost two decades ago, most scientific contributions have focused on identifying the molecular function of the fragile X mental retardation protein (FMRP) and understanding how absence of FMR1 gene expression gives rise to the disease phenotype...
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In the present chapter we will provide an overview of recent literature regarding new therapeutic perspectives in Fragile X syndrome (FXS), which are based on a rational approach well-grounded on a deeper understanding of the disease pathophysiology. FXS represents a paradigmatic example of how research can be translated into therapy targeting dysfunctional mechanisms rather than symptoms. Seve...
متن کاملThe fragile X syndrome.
We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...
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ژورنال
عنوان ژورنال: Trends in Molecular Medicine
سال: 2010
ISSN: 1471-4914
DOI: 10.1016/j.molmed.2010.08.005