Journal ArticleDOI
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Udo Rüb,Ludger Schöls,Henry L. Paulson,Georg Auburger,Pawel Kermer,Joanna C. Jen,Kay Seidel,Horst-Werner Korf,Thomas Deller +8 more
TLDR
The present review summarizes the current knowledge about the polyglutamine ataxias SCA1,SCA2, SCA3, SCa6 and SCA7 and compares their clinical and electrophysiological features, genetic and molecular biological background, as well as their brain pathologies.About:
This article is published in Progress in Neurobiology.The article was published on 2013-05-01. It has received 271 citations till now. The article focuses on the topics: Spinocerebellar ataxia.read more
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Journal ArticleDOI
Tandem repeats mediating genetic plasticity in health and disease.
TL;DR: A better understanding of tandem repeats and their associated repeatome, as well as their capacity for genetic plasticity via both germline and somatic mutations, is needed to transform the understanding of the role of TRPs in health and disease.
Journal ArticleDOI
Polyglutamine spinocerebellar ataxias — from genes to potential treatments
TL;DR: The dominantly inherited spinocerebellar ataxias represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole.
Journal ArticleDOI
Polyglutamine (PolyQ) diseases: genetics to treatments.
Hueng-Chuen Fan,Li Ing Ho,Ching Shiang Chi,Shyi-Jou Chen,Giia Sheun Peng,Tzu Min Chan,Shinn Zong Lin,Horng-Jyh Harn +7 more
TL;DR: Cellular transplantation of stem cells may provide promising therapeutic avenues for restoration of the functions of degenerative and/or damaged neurons in polyQ diseases.
Journal ArticleDOI
Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain.
Udo Rüb,Kay Seidel,Helmut Heinsen,Jean Paul G. Vonsattel,W. F. A. den Dunnen,Horst-Werner Korf +5 more
TL;DR: An overview of the currently known neurodegenerative hallmarks of the brains of HD patients is given and the stepwise revision of the simplified pathoanatomical and pathophysiological HD concept is revisioned.
Journal ArticleDOI
Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice.
Hayley S. McLoughlin,Lauren R. Moore,Ravi Chopra,Robert Komlo,Megan McKenzie,Kate G. Blumenstein,Hien T Zhao,Holly Kordasiewicz,Vikram G. Shakkottai,Henry L. Paulson +9 more
TL;DR: This work investigates whether an antisense oligonucleotide (ASO) targeting the SCA3 disease gene, ATXN3, can prevent molecular, neuropathological, electrophysiological, and behavioral features of the disease in a mouse model ofSCA3.
References
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
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TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Functional organization of the yeast proteome by systematic analysis of protein complexes
Anne-Claude Gavin,Markus Bösche,Roland Krause,Paola Grandi,Martina Marzioch,Andreas Bauer,Jörg Schultz,Jens Rick,Anne-Marie Michon,Cristina-Maria Cruciat,Marita Remor,Christian Höfert,Malgorzata Schelder,Miro Brajenovic,Heinz Ruffner,Alejandro Merino,Karin Klein,Manuela Hudak,David Dickson,Tatjana Rudi,Volker Gnau,Angela Bauch,Sonja Bastuck,Bettina Huhse,Christina Leutwein,Marie-Anne Heurtier,Richard R. Copley,Angela Edelmann,Erich Querfurth,Vladimir Rybin,Gerard Drewes,Manfred Raida,Tewis Bouwmeester,Peer Bork,Bertrand Séraphin,Bernhard Kuster,Gitte Neubauer,Giulio Superti-Furga +37 more
TL;DR: The analysis provides an outline of the eukaryotic proteome as a network of protein complexes at a level of organization beyond binary interactions, which contains fundamental biological information and offers the context for a more reasoned and informed approach to drug discovery.
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