Produktbild: Polyglutamine Disorders

Polyglutamine Disorders

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Advances in Experimental Medicine and Biology 1049

ISBN: 3319717782
ISBN 13: 9783319717784
Herausgeber: Clévio Nóbrega/Luís Pereira de Almeida
Verlag: Springer Verlag GmbH
Umfang: viii, 469 S., 2 s/w Illustr., 39 farbige Illustr., 469 p. 41 illus., 39 illus. in color.
Erscheinungsdatum: 20.02.2018
Auflage: 1/2018
Produktform: Gebunden/Hardback
Einband: Gebunden

This 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.

Artikelnummer: 3077392 Kategorie:

Beschreibung

Autorenporträt

Clevio Nobrega Ph.D. and Luis Pereira de Almeida Ph.D.University of Coimbra, Center for Neurosciences and Cell Biology, FMUC, Coimbra, Portugal

Herstellerkennzeichnung:


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E-Mail: juergen.hartmann@springer.com

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