Polyglutamine disorders / Clévio Nóbrega, Luís Pereira de Almeida, editors.
Nóbrega, Clévio, editor.; Pereira de Almeida, Luís, editor.
2018
RC346.4
Available Online

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Title Polyglutamine disorders / Clévio Nóbrega, Luís Pereira de Almeida, editors.
ISBN 9783319717791 (electronic book)
3319717790 (electronic book)
9783319717784
3319717782
DOI https://doi.org/10.1007/978-3-319-71779-1
Published Cham, Switzerland : Springer, 2018.
Language English
Description 1 online resource (viii, 469 pages) : illustrations.
Item Number 10.1007/978-3-319-71779-1 doi
Call Number RC346.4
Dewey Decimal Classification 616.8
Summary 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.
Bibliography, etc. Note Includes bibliographical references and index.
Access Note Access limited to authorized users.
Digital File Characteristics text file PDF
Source of Description Online resource; title from PDF title page (SpringerLink, viewed February 13, 2018).
Added Author Nóbrega, Clévio, editor.
Pereira de Almeida, Luís, editor.
Series Advances in experimental medicine and biology ; 1049. 0065-2598
Available in Other Form Polyglutamine disorders.
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Record Appears in Online Resources > Ebooks
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The neuropathology of spinocerebellar ataxia type 3/Machado-Joseph disease / Arnulf H. Koeppen
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Clinical features of Machado-Joseph disease / Nuno Mendonça, Marcondes C. França Jr., António Freire Gonçalves, Cristina Januário
Polyglutamine-independent features in ataxin-3 aggregation and pathogenesis of Machado-Joseph disease / Ana Luisa Carvalho, Alexandra Silva, Sandra Macedo-Ribeiro
Animal models of Machado-Joseph disease / Jana Schmidt, Thorsten Schmidt
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Planning future clinical trials for Machado-Joseph disease / Jonas Alex Morales Saute, Laura Bannach Jardim
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Erratum to: Spinocerebellar ataxia type 6: molecular mechanisms and calcium channel genetics / Xiaofei Du, Christopher Manuel Gomez.

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