Literature DB >> 21985782

The long and the short of aberrant ciliogenesis in Huntington disease.

Jeh-Ping Liu1, Scott O Zeitlin.   

Abstract

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that is caused by a mutant huntingtin (HTT) gene encoding a version of the Htt protein with an expanded polyglutamine stretch. Although the HTT gene was discovered more than 18 years ago, the functions of normal Htt and the mechanisms by which mutant Htt causes disease are not well defined. In this issue of the JCI, Keryer et al. uncovered a novel function for normal Htt in ciliogenesis and report that mutant Htt causes hypermorphic ciliogenesis and ciliary dysfunction. These observations suggest that it is now critical to understand the extent to which ciliary dysfunction contributes to the different symptoms of HD and to determine whether therapeutic strategies designed to normalize ciliary function can ameliorate the disease.

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Year:  2011        PMID: 21985782      PMCID: PMC3204854          DOI: 10.1172/JCI60243

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  22 in total

Review 1.  Identification of neural stem cells in the adult vertebrate brain.

Authors:  Arturo Alvarez-Buylla; Bettina Seri; Fiona Doetsch
Journal:  Brain Res Bull       Date:  2002-04       Impact factor: 4.077

2.  Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.

Authors:  Guy Keryer; Jose R Pineda; Géraldine Liot; Jinho Kim; Paula Dietrich; Caroline Benstaali; Karen Smith; Fabrice P Cordelières; Nathalie Spassky; Robert J Ferrante; Ioannis Dragatsis; Frédéric Saudou
Journal:  J Clin Invest       Date:  2011-10-10       Impact factor: 14.808

3.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Authors: 
Journal:  Cell       Date:  1993-03-26       Impact factor: 41.582

4.  Dendritic spine loss and neurodegeneration is rescued by Rab11 in models of Huntington's disease.

Authors:  P Richards; C Didszun; S Campesan; A Simpson; B Horley; K W Young; P Glynn; K Cain; C P Kyriacou; F Giorgini; P Nicotera
Journal:  Cell Death Differ       Date:  2010-11-19       Impact factor: 15.828

Review 5.  Cilia in the CNS: the quiet organelle claims center stage.

Authors:  Angeliki Louvi; Elizabeth A Grove
Journal:  Neuron       Date:  2011-03-24       Impact factor: 17.173

6.  Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Authors:  Heather M Kulaga; Carmen C Leitch; Erica R Eichers; Jose L Badano; Alysa Lesemann; Bethan E Hoskins; James R Lupski; Philip L Beales; Randall R Reed; Nicholas Katsanis
Journal:  Nat Genet       Date:  2004-08-22       Impact factor: 38.330

Review 7.  The hunt for huntingtin function: interaction partners tell many different stories.

Authors:  Phoebe Harjes; Erich E Wanker
Journal:  Trends Biochem Sci       Date:  2003-08       Impact factor: 13.807

8.  Huntingtin coordinates the dynein-mediated dynamic positioning of endosomes and lysosomes.

Authors:  Juliane P Caviston; Allison L Zajac; Mariko Tokito; Erika L F Holzbaur
Journal:  Mol Biol Cell       Date:  2010-12-17       Impact factor: 4.138

9.  Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice.

Authors:  Xiaoxing Ma; Randy Peterson; John Turnbull
Journal:  BMC Neurosci       Date:  2011-07-18       Impact factor: 3.288

10.  Aggresomes: a cellular response to misfolded proteins.

Authors:  J A Johnston; C L Ward; R R Kopito
Journal:  J Cell Biol       Date:  1998-12-28       Impact factor: 10.539

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  5 in total

1.  The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.

Authors:  Yoshiho Ikeuchi; Luis de la Torre-Ubieta; Takahiko Matsuda; Hanno Steen; Hitoshi Okazawa; Azad Bonni
Journal:  Cell Rep       Date:  2013-08-29       Impact factor: 9.423

Review 2.  Centriolar satellites: key mediators of centrosome functions.

Authors:  Maxim A X Tollenaere; Niels Mailand; Simon Bekker-Jensen
Journal:  Cell Mol Life Sci       Date:  2014-08-31       Impact factor: 9.261

3.  Prenatal alcohol exposure disrupts Sonic hedgehog pathway and primary cilia genes in the mouse neural tube.

Authors:  Karen E Boschen; Eric W Fish; Scott E Parnell
Journal:  Reprod Toxicol       Date:  2021-09-04       Impact factor: 3.421

Review 4.  Antisense therapy in neurology.

Authors:  Joshua J A Lee; Toshifumi Yokota
Journal:  J Pers Med       Date:  2013-08-02

Review 5.  Huntington's disease: the past, present, and future search for disease modifiers.

Authors:  Erin B D Clabough
Journal:  Yale J Biol Med       Date:  2013-06-13
  5 in total

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