SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
نویسندگان
چکیده
منابع مشابه
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic function. Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis. This nonsense mutation was found in all af...
متن کاملinterpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولcompactifications and function spaces on weighted semigruops
chapter one is devoted to a moderate discussion on preliminaries, according to our requirements. chapter two which is based on our work in (24) is devoted introducting weighted semigroups (s, w), and studying some famous function spaces on them, especially the relations between go (s, w) and other function speces are invesigated. in fact this chapter is a complement to (32). one of the main fea...
15 صفحه اولDLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
متن کاملSYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of neuron-specific phosphoproteins (SYN1-3) p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2011
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddr122