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001 978-3-319-71779-1
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020 _a9783319717791
_9978-3-319-71779-1
050 4 _aRC321-580
072 7 _aPSAN
_2bicssc
072 7 _aMED057000
_2bisacsh
072 7 _aPSAN
_2thema
082 0 4 _a612.8
_223
245 1 0 _aPolyglutamine Disorders
_h[electronic resource] /
_cedited by Clévio Nóbrega, Luís Pereira de Almeida.
250 _a1st ed. 2018.
264 1 _aCham :
_bSpringer International Publishing :
_bImprint: Springer,
_c2018.
300 _aVIII, 469 p. 41 illus., 39 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aAdvances in Experimental Medicine and Biology,
_x0065-2598 ;
_v1049
500 _aAcceso multiusuario
520 _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.
541 _fUABC ;
_cTemporal ;
_d01/01/2021-12/31/2023.
650 0 _aNeurosciences.
650 0 _aNeurology .
650 0 _aMedical genetics.
650 1 4 _aNeurosciences.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B18006
650 2 4 _aNeurology.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H36001
650 2 4 _aGene Function.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B12030
700 1 _aNóbrega, Clévio.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPereira de Almeida, Luís.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783319717784
776 0 8 _iPrinted edition:
_z9783319717807
776 0 8 _iPrinted edition:
_z9783319891033
830 0 _aAdvances in Experimental Medicine and Biology,
_x0065-2598 ;
_v1049
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-319-71779-1
912 _aZDB-2-SBL
912 _aZDB-2-SXB
942 _cLIBRO_ELEC
999 _c244269
_d244268