Literature DB >> 19936807

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

Boris Keren, Aurélia Jacquette, Christel Depienne, Patricia Leite, Alexandra Durr, Wassila Carpentier, Baya Benyahia, Gerard Ponsot, Florent Soubrier, Alexis Brice, Delphine Héron.   

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Year:  2009        PMID： 19936807     DOI： 10.1007/s10048-009-0227-8

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats.

Authors:  Vladimir N Potaman; John J Bissler; Vera I Hashem; Elena A Oussatcheva; Lu Lu; Luda S Shlyakhtenko; Yuri L Lyubchenko; Tohru Matsuura; Tetsuo Ashizawa; Michael Leffak; Craig J Benham; Richard R Sinden
Journal:  J Mol Biol       Date:  2003-02-28       Impact factor: 5.469

2.  The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.

Authors:  M Wakamiya; T Matsuura; Y Liu; G C Schuster; R Gao; W Xu; P S Sarkar; X Lin; T Ashizawa
Journal:  Neurology       Date:  2006-08-22       Impact factor: 9.910

3.  Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Authors:  T Matsuura; T Yamagata; D L Burgess; A Rasmussen; R P Grewal; K Watase; M Khajavi; A E McCall; C F Davis; L Zu; M Achari; S M Pulst; E Alonso; J L Noebels; D L Nelson; H Y Zoghbi; T Ashizawa
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

4.  Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons.

Authors:  Pia März; Alphonse Probst; Sigrid Lang; Martine Schwager; Stefan Rose-John; Uwe Otten; Suat Ozbek
Journal:  J Biol Chem       Date:  2004-06-16       Impact factor: 5.157

5.  Genetic instabilities of (CCTG).(CAGG) and (ATTCT).(AGAAT) disease-associated repeats reveal multiple pathways for repeat deletion.

Authors:  Sharon F Edwards; Vera I Hashem; Elzbieta A Klysik; Richard R Sinden
Journal:  Mol Carcinog       Date:  2009-04       Impact factor: 4.784

6.  Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.

Authors:  Guoqi Liu; John J Bissler; Richard R Sinden; Michael Leffak
Journal:  Mol Cell Biol       Date:  2007-09-10       Impact factor: 4.272
  6 in total
  7 in total

1.  Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model.

Authors:  Misti White; Guangbin Xia; Rui Gao; Maki Wakamiya; Partha S Sarkar; Karen McFarland; Tetsuo Ashizawa
Journal:  J Neurosci Res       Date:  2011-11-08       Impact factor: 4.164

Review 2.  Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions.

Authors:  Nan Zhang; Tetsuo Ashizawa
Journal:  Cells       Date:  2022-05-06       Impact factor: 7.666

3.  Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.

Authors:  Misti C White; Rui Gao; Weidong Xu; Santi M Mandal; Jung G Lim; Tapas K Hazra; Maki Wakamiya; Sharon F Edwards; Salmo Raskin; Hélio A G Teive; Huda Y Zoghbi; Partha S Sarkar; Tetsuo Ashizawa
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

Review 4.  RNA toxicity in non-coding repeat expansion disorders.

Authors:  Bart Swinnen; Wim Robberecht; Ludo Van Den Bosch
Journal:  EMBO J       Date:  2019-11-13       Impact factor: 11.598

Review 5.  The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.

Authors:  Tatsuaki Kurosaki; Tetsuo Ashizawa
Journal:  Front Genet       Date:  2022-09-15       Impact factor: 4.772

6.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847

Review 7.  Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder.

Authors:  Karen N McFarland; Tetsuo Ashizawa
Journal:  Genes (Basel)       Date:  2012-07-30       Impact factor: 4.141
  7 in total

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