New perspectives on the biology of fragile X syndrome
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TLDR
New evidence suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis, and studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of F MRP.About:
This article is published in Current Opinion in Genetics & Development.The article was published on 2012-06-01 and is currently open access. It has received 108 citations till now. The article focuses on the topics: FMR1 & Trinucleotide repeat disorder.read more
Citations
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A census of human RNA-binding proteins.
TL;DR: This work presents a census of 1,542 manually curated RBPs that are analysed for their interactions with different classes of RNA, their evolutionary conservation, their abundance and their tissue-specific expression, a critical step towards the comprehensive characterization of proteins involved in human RNA metabolism.
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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
TL;DR: The understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS.
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Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum
Tao Wang,Qian Pan,Li Lin,Keith E. Szulwach,Chun-Xiao Song,Chuan He,Hao Wu,Stephen T. Warren,Peng Jin,Ranhui Duan,Xuekun Li +10 more
TL;DR: The results suggest that 5-hmC-mediated epigenetic regulation may broadly impact the development of the human brain, and its dysregulation could contribute to the molecular pathogenesis of neurodevelopmental disorders.
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Autism and the synapse: emerging mechanisms and mechanism-based therapies.
TL;DR: Identifying converging pathways in syndromic forms of ASD will uncover novel therapeutic targets for non-syndromic ASD and provide a blueprint for other common pathways implicated in the molecular neuropathology of ASD.
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Human induced pluripotent stem cells for modelling neurodevelopmental disorders
Karthikeyan Ardhanareeswaran,Jessica Mariani,Gianfilippo Coppola,Alexej Abyzov,Flora M. Vaccarino +4 more
TL;DR: It is hoped that hiPSC biology and possible experimental designs when using hiPSCs to model disease will illuminate the pathophysiology of developmental disorders of the CNS and lead to therapeutic options for the millions that are affected by these conditions.
References
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Adult neurogenesis in the mammalian brain: significant answers and significant questions.
Guo Li Ming,Hongjun Song +1 more
TL;DR: Major advances in understanding of adult mammalian neurogenesis in the dentate gyrus of the hippocampus and from the subventricular zone of the lateral ventricle, the rostral migratory stream to the olfactory bulb are reviewed.
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New neurons and new memories: how does adult hippocampal neurogenesis affect learning and memory?
TL;DR: Recent progress in the integration of adult-born neurons into the circuitry of the adult hippocampus suggests an important role for adult hippocampal neurogenesis in learning and memory, but its specific function in these processes has remained elusive.
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FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
Jennifer C. Darnell,Sarah J. Van Driesche,Chaolin Zhang,Ka Ying Sharon Hung,Aldo Mele,Claire E. Fraser,Elizabeth F. Stone,Cynthia Chen,John J. Fak,Sung Wook Chi,Donny D. Licatalosi,Joel D. Richter,Robert B. Darnell,Robert B. Darnell +13 more
TL;DR: A brain polyribosome-programmed translation system is developed, revealing that FMRP reversibly stalls ribosomes specifically on its target mRNAs and suggests multiple targets for clinical intervention in FXS and ASD.
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Altered synaptic plasticity in a mouse model of fragile X mental retardation
TL;DR: It is shown that a form of protein synthesis-dependent synaptic plasticity, long-term depression triggered by activation of metabotropic glutamate receptors, is selectively enhanced in the hippocampus of mutant mice lacking FMRP.
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The Story of Rett Syndrome: From Clinic to Neurobiology
Maria H. Chahrour,Huda Y. Zoghbi +1 more
TL;DR: To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated.
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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