Literature DB >> 20452956

Nuclear ataxias.

Harry T Orr1.   

Abstract

Historically basic neuroscience research has made several important contributions to the cell biology of the nucleus, in particular the elucidation of nuclear structures and compartments. As research progressed towards elucidating the mechanism of neurological disease at the cellular and molecular levels, it is now providing insight into the importance and basis of coordination of nuclear pathways within the nucleus and with other cellular compartments. Ataxias, lethal neurodegenerative diseases that are distinguished by a progressive loss of motor coordination, stem from disruption of nuclear function.

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Year:  2010        PMID： 20452956      PMCID： PMC2857172          DOI： 10.1101/cshperspect.a000786

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Biol        ISSN： 1943-0264            Impact factor:   10.005


  73 in total

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Authors:  A G Matera; M R Frey
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

2.  Susceptibility to cell death induced by mutant SV40 T-antigen correlates with Purkinje neuron functional development.

Authors:  R M Feddersen; W S Yunis; M A O'Donnell; T J Ebner; L Shen; C Iadecola; H T Orr; H B Clark
Journal:  Mol Cell Neurosci       Date:  1997-01       Impact factor: 4.314

3.  Loss of Rb activates both p53-dependent and independent cell death pathways in the developing mouse nervous system.

Authors:  K F Macleod; Y Hu; T Jacks
Journal:  EMBO J       Date:  1996-11-15       Impact factor: 11.598

4.  Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs.

Authors:  A R Mushegian; D E Bassett; M S Boguski; P Bork; E V Koonin
Journal:  Proc Natl Acad Sci U S A       Date:  1997-05-27       Impact factor: 11.205

5.  Enhanced phosphorylation of p53 by ATM in response to DNA damage.

Authors:  S Banin; L Moyal; S Shieh; Y Taya; C W Anderson; L Chessa; N I Smorodinsky; C Prives; Y Reiss; Y Shiloh; Y Ziv
Journal:  Science       Date:  1998-09-11       Impact factor: 47.728

6.  Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.

Authors:  Y Xu; T Ashley; E E Brainerd; R T Bronson; M S Meyn; D Baltimore
Journal:  Genes Dev       Date:  1996-10-01       Impact factor: 11.361

7.  In vivo viability of postmitotic Purkinje neurons requires pRb family member function.

Authors:  R M Feddersen; H B Clark; W S Yunis; H T Orr
Journal:  Mol Cell Neurosci       Date:  1995-04       Impact factor: 4.314

8.  Atm-deficient mice: a paradigm of ataxia telangiectasia.

Authors:  C Barlow; S Hirotsune; R Paylor; M Liyanage; M Eckhaus; F Collins; Y Shiloh; J N Crawley; T Ried; D Tagle; A Wynshaw-Boris
Journal:  Cell       Date:  1996-07-12       Impact factor: 41.582

9.  Disruption of the nuclear hormone receptor RORalpha in staggerer mice.

Authors:  B A Hamilton; W N Frankel; A W Kerrebrock; T L Hawkins; W FitzHugh; K Kusumi; L B Russell; K L Mueller; V van Berkel; B W Birren; L Kruglyak; E S Lander
Journal:  Nature       Date:  1996-02-22       Impact factor: 49.962

10.  Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

Authors:  Arndt Rolfs; Arnulf H Koeppen; Ingrid Bauer; Peter Bauer; Sven Buhlmann; Helge Topka; Ludger Schöls; Olaf Riess
Journal:  Ann Neurol       Date:  2003-09       Impact factor: 10.422
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  6 in total

Review 1.  Orphan nuclear bodies.

Authors:  Maria Carmo-Fonseca; Maria T Berciano; Miguel Lafarga
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-07-07       Impact factor: 10.005

2.  Drosophila CORL is required for Smad2-mediated activation of Ecdysone Receptor expression in the mushroom body.

Authors:  Norma T Takaesu; Michael J Stinchfield; Kazumichi Shimizu; Mayu Arase; Janine C Quijano; Tetsuro Watabe; Kohei Miyazono; Stuart J Newfeld
Journal:  Development       Date:  2012-08-08       Impact factor: 6.868

Review 3.  Transcriptional regulation of neuronal polarity and morphogenesis in the mammalian brain.

Authors:  Luis de la Torre-Ubieta; Azad Bonni
Journal:  Neuron       Date:  2011-10-06       Impact factor: 17.173

Review 4.  Impact of nuclear organization and dynamics on epigenetic regulation in the central nervous system: implications for neurological disease states.

Authors:  Irfan A Qureshi; Mark F Mehler
Journal:  Ann N Y Acad Sci       Date:  2010-09       Impact factor: 5.691

5.  Adult Movement Defects Associated with a CORL Mutation in Drosophila Display Behavioral Plasticity.

Authors:  Agapi Dimitriadou; Nasia Chatzianastasi; Panagiota I Zacharaki; MaryJane O'Connor; Samuel L Goldsmith; Michael B O'Connor; Christos Consoulas; Stuart J Newfeld
Journal:  G3 (Bethesda)       Date:  2020-05-04       Impact factor: 3.154

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
  6 in total

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