Abstract:
BACKGROUND:Fragile X syndrome (FXS) is the most common form of monogenic hereditary cognitive impairment, including intellectual disability, autism, hyperactivity, and epilepsy. METHODS:This article reviews the literature pertaining to the role of synaptic dysfunction in FXS. RESULTS:In FXS, synaptic dysfunction alters the excitation-inhibition ratio, dysregulating molecular and cellular processes underlying cognition, learning, memory, and social behavior. Decades of research have yielded important hypotheses that could explain, at least in part, the development of these neurological disorders in FXS patients. However, the main goal of translating lab research in animal models to pharmacological treatments in the clinic has been so far largely unsuccessful, leaving FXS a still incurable disease. CONCLUSION:In this concise review, we summarize and analyze the main hypotheses proposed to explain synaptic dysregulation in FXS, by reviewing the scientific evidence that led to pharmaceutical clinical trials and their outcome.
journal_name
Curr Pharm Desjournal_title
Current pharmaceutical designauthors
Telias Mdoi
10.2174/1381612825666191102165206subject
Has Abstractpub_date
2019-01-01 00:00:00pages
4394-4404issue
41eissn
1381-6128issn
1873-4286pii
CPD-EPUB-102049journal_volume
25pub_type
杂志文章,评审abstract::Myelodysplastic syndromes (MDS) are a group of aquired hematopoietic disorders characterized by ineffective hematopoiesis, and increased risk of progression of acute myeloid leukemia. For a long period of time, the standard therapy for MDS was hematopoietic stem cell transplantation, however DNA methyltransferase inhi...
journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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abstract:: ...
journal_title:Current pharmaceutical design
pub_type: 社论
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journal_title:Current pharmaceutical design
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