000 | 03656nam a22005655i 4500 | ||
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001 | 978-3-319-71779-1 | ||
003 | DE-He213 | ||
005 | 20210201191516.0 | ||
007 | cr nn 008mamaa | ||
008 | 180209s2018 gw | s |||| 0|eng d | ||
020 |
_a9783319717791 _9978-3-319-71779-1 |
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050 | 4 | _aRC321-580 | |
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_aPSAN _2bicssc |
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_aMED057000 _2bisacsh |
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_aPSAN _2thema |
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_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. |
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300 |
_aVIII, 469 p. 41 illus., 39 illus. in color. _bonline resource. |
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336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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347 |
_atext file _bPDF _2rda |
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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. |
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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 |
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_iPrinted edition: _z9783319717807 |
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_iPrinted edition: _z9783319891033 |
830 | 0 |
_aAdvances in Experimental Medicine and Biology, _x0065-2598 ; _v1049 |
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_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-319-71779-1 |
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