Understanding the biological underpinnings of XXXX .

@entity1032 @entity34141 @entity19 @entity2100 @entity238
PURPOSE OF REVIEW: The purpose of this review is to present the latest findings on @entity2100 and to put them into perspective. @entity2100 is a relatively common form of @entity1032 , caused by loss of function of the @entity34141 gene on the long arm of the X chromosome. The molecular mechanisms underlying the syndrome are complex and continue to surprise researchers more than 12 years after the cloning of the gene. RECENT FINDINGS: We will specifically discuss the various aspects of the clinical phenotype, reassessed with the employment of functional imaging and electrophysiological techniques. The unexpected finding of a pathologic phenotype in premutation carriers is highlighted, as it represents a new and distinct condition with a different presentation in males and females. The third section deals briefly with the various functions of the @entity34141 protein, an RNA-binding protein interacting with multiple RNA molecules as well as proteins. It is important to realize that @entity34141 is probably changing partners several times, depending on its localization, on posttranslational modifications and on the available interacting proteins. In the following section, we present in short recent discoveries on the defective neuronal circuits in the @entity2100 . Most of these new data were made available by the study of animal models, mostly the @entity34141 knockout @entity19 , but also @entity238 . SUMMARY: We briefly discuss the alternative options for treating @entity2100 . Presently, a neuropharmacological approach acting on either critical receptors or aimed at reactivating the silenced @entity34141 gene appears promising.
