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100   $a20180209d2018      u|         0
101 0 $aeng
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181   $2rdacontent
182   $2rdamedia
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200 10$aPolyglutamine Disorders /$fedited by Clévio Nóbrega, Luís Pereira de Almeida
205   $a1st ed. 2018.
210  1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2018.
215   $a1 online resource (469 pages) $cillustrations, tables
225 1 $aAdvances in Experimental Medicine and Biology,$x0065-2598 ;$v1049
311   $a3-319-71778-2 
320   $aIncludes bibliographical references at the end of each chapters and index.
330   $aThis book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies? development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression.  Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington?s disease (HD); spinal?bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.
410  0$aAdvances in Experimental Medicine and Biology,$x0065-2598 ;$v1049
606   $aNeurosciences
606   $aNeurology 
606   $aMedical genetics
606   $aNeurosciences$3https://scigraph.springernature.com/ontologies/product-market-codes/B18006
606   $aNeurology$3https://scigraph.springernature.com/ontologies/product-market-codes/H36001
606   $aGene Function$3https://scigraph.springernature.com/ontologies/product-market-codes/B12030
615  0$aNeurosciences.
615  0$aNeurology .
615  0$aMedical genetics.
615 14$aNeurosciences.
615 24$aNeurology.
615 24$aGene Function.
676   $a616.80442
702   $aNóbrega$b Clévio$4edt$4http://id.loc.gov/vocabulary/relators/edt
702   $aPereira de Almeida$b Luís$4edt$4http://id.loc.gov/vocabulary/relators/edt
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906   $aBOOK
912   $a9910298438203321
996   $aPolyglutamine Disorders$92508032
997   $aUNINA