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Polyglutamine disorders

Author: Clévio Nóbrega; Luís Pereira de Almeida
Publisher: Cham, Switzerland : Springer, 2018.
Series: Advances in experimental medicine and biology, 1049.
Edition/Format:   eBook : Document : EnglishView all editions and formats
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  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Polyglutamine disorders.
Cham, Switzerland : Springer, 2018
(OCoLC)1007928456
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Clévio Nóbrega; Luís Pereira de Almeida
ISBN: 9783319717791 3319717790
OCLC Number: 1022948905
Description: 1 online resource (viii, 469 pages) : illustrations (some color)
Contents: Clinical features of Huntington's disease / Rhia Ghosh, Sarah J. Tabrizi --
Genetic rodent models of Huntington disease / J. Stricker-Shaver, A. Novati, L. Yu-Taeger, H.P. Nguyen --
Mitochondrial dysfunction in Huntington's disease / Catarina Carmo, Luana Naia, Carla Lopes, A. Cristina Rego --
RNA related pathology in Huntington's disease / Andreas Neueder, Gillian P. Bates --
X-linked spinal and bulbar muscular atrophy: from clinical genetic features and molecular pathology to mechanisms underlying disease toxicity / Constanza J. Cortes, Albert R. La Spada --
spinocerebellar ataxia type 1: molecular mechanisms of neurodegeneration and preclinical studies / Judit M. Pérez Ortiz, Harry T. Orr --
Spinocerebellar ataxia type 6: molecular mechanisms and calcium channel genetics / Xiaofei Du, Christopher Manuel Gomez --
Spinocerebellar ataxia type 2 / Daniel R. Scoles, Stefan M. Pulst --
Molecular mechanisms and therapeutic strategies in spinocerebellar ataxia type 7 / Alice Karam, Yvon Trottier --
Spinocerebellar ataxia type 17 (SCA17) / Yasuko Toyoshima, Hitoshi Takahashi --
The neuropathology of spinocerebellar ataxia type 3/Machado-Joseph disease / Arnulf H. Koeppen --
Origins and spread of Machado-Joseph disease ancestral mutations events / Sandra Martins, Jorge Sequeiros --
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 --
Towards the identification of molecular biomarkers of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) / Manuela Lima, Mafalda Raposo --
Planning future clinical trials for Machado-Joseph disease / Jonas Alex Morales Saute, Laura Bannach Jardim --
Molecular mechanisms and cellular pathways implicated in Machado-Joseph disease pathogenesis / Clévio Nóbrega, Ana Teresa Simões, Joana Duarte-Neves, Sónia Duarte, Ana Vasconcelos-Ferreira, Janete Cunha-Santos [and others] --
Pharmacological therapies for Machado-Joseph disease / Sara Duarte-Silva, Patrícia Maciel --
Gene therapies for polyglutamine diseases / Carlos A. Matos, Vítor Carmona, Udaya-Geetha Vijayakumar, Sara Lopes, Patrícia Albuquerque, Mariana Conceição [and others] --
Stem cell-based therapies for polyglutamine diseases / Liliana S. Mendonça, Isabel Onofre, Catarina Oliveira Miranda, Rita Perfeito, Clévio Nóbrega, Luís Pereira de Almeida --
Erratum to: Spinocerebellar ataxia type 6: molecular mechanisms and calcium channel genetics / Xiaofei Du, Christopher Manuel Gomez.
Series Title: Advances in experimental medicine and biology, 1049.
Responsibility: Clévio Nóbrega, Luís Pereira de Almeida, editors.

Abstract:

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.

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