Literature DB >> 28855740

Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

Henry L Paulson1, Vikram G Shakkottai1, H Brent Clark2, Harry T Orr2,3.   

Abstract

The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.

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Year:  2017        PMID： 28855740      PMCID： PMC6420820          DOI： 10.1038/nrn.2017.92

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN： 1471-003X            Impact factor:   34.870


  162 in total

1.  Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.

Authors:  D Lorenzetti; K Watase; B Xu; M M Matzuk; H T Orr; H Y Zoghbi
Journal:  Hum Mol Genet       Date:  2000-03-22       Impact factor: 6.150

2.  Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies.

Authors:  R Estrada; J Galarraga; G Orozco; A Nodarse; G Auburger
Journal:  Acta Neuropathol       Date:  1999-03       Impact factor: 17.088

3.  The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.

Authors:  S Yue; H G Serra; H Y Zoghbi; H T Orr
Journal:  Hum Mol Genet       Date:  2001-01-01       Impact factor: 6.150

4.  Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.

Authors:  D P Huynh; K Figueroa; N Hoang; S M Pulst
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

5.  A novel protein with RNA-binding motifs interacts with ataxin-2.

Authors:  H Shibata; D P Huynh; S M Pulst
Journal:  Hum Mol Genet       Date:  2000-05-22       Impact factor: 6.150

6.  Structure and function of the C-terminal PABC domain of human poly(A)-binding protein.

Authors:  G Kozlov; J F Trempe; K Khaleghpour; A Kahvejian; I Ekiel; K Gehring
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-03       Impact factor: 11.205

7.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

8.  Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.

Authors:  Effat S Emamian; Michael D Kaytor; Lisa A Duvick; Tao Zu; Susan K Tousey; Huda Y Zoghbi; H Brent Clark; Harry T Orr
Journal:  Neuron       Date:  2003-05-08       Impact factor: 17.173

9.  A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

Authors:  Kei Watase; Edwin J Weeber; Bisong Xu; Barbara Antalffy; Lisa Yuva-Paylor; Kouichi Hashimoto; Masanobu Kano; Richard Atkinson; Yaling Sun; Dawna L Armstrong; J David Sweatt; Harry T Orr; Richard Paylor; Huda Y Zoghbi
Journal:  Neuron       Date:  2002-06-13       Impact factor: 17.173

Review 10.  Calcium channels and channelopathies of the central nervous system.

Authors:  Daniela Pietrobon
Journal:  Mol Neurobiol       Date:  2002-02       Impact factor: 5.590
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  94 in total

1.  Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study.

Authors:  Carlo Wilke; Friedemann Bender; Stefanie N Hayer; Kathrin Brockmann; Ludger Schöls; Jens Kuhle; Matthis Synofzik
Journal:  J Neurol       Date:  2018-05-08       Impact factor: 4.849

Review 2.  New pathologic mechanisms in nucleotide repeat expansion disorders.

Authors:  C M Rodriguez; P K Todd
Journal:  Neurobiol Dis       Date:  2019-06-21       Impact factor: 5.996

3.  Role of Mutant TBP in Regulation of Myogenesis on Muscle Satellite Cells.

Authors:  Dong-Ming Zhao; Sui-Qiang Zhu; Fu-Rong Wang; Shan-Shan Huang
Journal:  Curr Med Sci       Date:  2019-10-14

4.  Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Authors:  Heike Jacobi; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; Lidia Sarro; Maria Rakowicz; Anna Sulek; Anna Sobanska; Tanja Schmitz-Hübsch; Ludger Schöls; Holger Hengel; Laszlo Baliko; Bela Melegh; Alessandro Filla; Antonella Antenora; Jon Infante; José Berciano; Bart P van de Warrenburg; Dagmar Timmann; Sandra Szymanski; Sylvia Boesch; Wolfgang Nachbauer; Jun-Suk Kang; Massimo Pandolfo; Jörg B Schulz; Audrey Tanguy Melac; Alhassane Diallo; Thomas Klockgether
Journal:  J Neurol       Date:  2018-06-29       Impact factor: 4.849

Review 5.  Targeting Hsp70 facilitated protein quality control for treatment of polyglutamine diseases.

Authors:  Amanda K Davis; William B Pratt; Andrew P Lieberman; Yoichi Osawa
Journal:  Cell Mol Life Sci       Date:  2019-09-24       Impact factor: 9.261

Review 6.  Ataxia.

Authors:  Sheng-Han Kuo
Journal:  Continuum (Minneap Minn)       Date:  2019-08

7.  In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3.

Authors:  Maria do Carmo Costa; Maria Radzwion; Hayley S McLoughlin; Naila S Ashraf; Svetlana Fischer; Vikram G Shakkottai; Patrícia Maciel; Henry L Paulson; Gülin Öz
Journal:  Mov Disord       Date:  2020-07-04       Impact factor: 10.338

Review 8.  Models and mechanisms of repeat expansion disorders: a worm's eye view.

Authors:  Paige Rudich; Todd Lamitina
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

9.  Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line.

Authors:  Lauren R Moore; Laura Keller; David D Bushart; Rodrigo G Delatorre; Duojia Li; Hayley S McLoughlin; Maria do Carmo Costa; Vikram G Shakkottai; Gary D Smith; Henry L Paulson
Journal:  Stem Cell Res       Date:  2019-07-16       Impact factor: 2.020

10.  Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice.

Authors:  Hayley S McLoughlin; Lauren R Moore; Ravi Chopra; Robert Komlo; Megan McKenzie; Kate G Blumenstein; Hien Zhao; Holly B Kordasiewicz; Vikram G Shakkottai; Henry L Paulson
Journal:  Ann Neurol       Date:  2018-08-06       Impact factor: 10.422
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