Literature DB >> 21441583

Huntington's Disease.

Steven Finkbeiner1.   

Abstract

Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to mutant Htt leading to neurodegeneration. The polyQ expansion makes Htt prone to aggregate and accumulate, and manipulations that mitigate protein misfolding or facilitate the clearance of misfolded proteins tend to slow disease progression in HD models. This article will focus on HD and the evidence that it is a conformational disease.

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Year:  2011        PMID: 21441583      PMCID: PMC3098678          DOI: 10.1101/cshperspect.a007476

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


  201 in total

1.  Evidence for a recruitment and sequestration mechanism in Huntington's disease.

Authors:  E Preisinger; B M Jordan; A Kazantsev; D Housman
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-06-29       Impact factor: 6.237

2.  Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells.

Authors:  A Kazantsev; E Preisinger; A Dranovsky; D Goldgaber; D Housman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

3.  Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.

Authors:  Aaron B Bowman; Seung-Yun Yoo; Nico P Dantuma; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2005-01-20       Impact factor: 6.150

4.  Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins.

Authors:  S Krobitsch; S Lindquist
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-15       Impact factor: 11.205

5.  Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity.

Authors:  N R Jana; M Tanaka; G h Wang; N Nukina
Journal:  Hum Mol Genet       Date:  2000-08-12       Impact factor: 6.150

6.  Proteasome impairment does not contribute to pathogenesis in R6/2 Huntington's disease mice: exclusion of proteasome activator REGgamma as a therapeutic target.

Authors:  John S Bett; Geoffrey M Goellner; Ben Woodman; Gregory Pratt; Martin Rechsteiner; Gillian P Bates
Journal:  Hum Mol Genet       Date:  2005-11-25       Impact factor: 6.150

7.  Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice.

Authors:  Ryan L Boudreau; Jodi L McBride; Inês Martins; Shihao Shen; Yi Xing; Barrie J Carter; Beverly L Davidson
Journal:  Mol Ther       Date:  2009-02-24       Impact factor: 11.454

8.  Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models.

Authors:  Liliana Menalled; Bassem F El-Khodor; Monica Patry; Mayte Suárez-Fariñas; Samantha J Orenstein; Benjamin Zahasky; Christina Leahy; Vanessa Wheeler; X William Yang; Marcy MacDonald; A Jennifer Morton; Gill Bates; Janet Leeds; Larry Park; David Howland; Ethan Signer; Allan Tobin; Daniela Brunner
Journal:  Neurobiol Dis       Date:  2009-05-21       Impact factor: 5.996

9.  Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.

Authors:  Coralie Vacher; Lourdes Garcia-Oroz; David C Rubinsztein
Journal:  Hum Mol Genet       Date:  2005-10-04       Impact factor: 6.150

10.  Functional amyloid formation within mammalian tissue.

Authors:  Douglas M Fowler; Atanas V Koulov; Christelle Alory-Jost; Michael S Marks; William E Balch; Jeffery W Kelly
Journal:  PLoS Biol       Date:  2006-01       Impact factor: 8.029

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  64 in total

Review 1.  Allele-selective inhibition of trinucleotide repeat genes.

Authors:  Masayuki Matsui; David R Corey
Journal:  Drug Discov Today       Date:  2012-01-18       Impact factor: 7.851

Review 2.  Mechanisms of protein homeostasis (proteostasis) maintain stem cell identity in mammalian pluripotent stem cells.

Authors:  Alireza Noormohammadi; Giuseppe Calculli; Ricardo Gutierrez-Garcia; Amirabbas Khodakarami; Seda Koyuncu; David Vilchez
Journal:  Cell Mol Life Sci       Date:  2017-07-26       Impact factor: 9.261

Review 3.  How Do J-Proteins Get Hsp70 to Do So Many Different Things?

Authors:  Elizabeth A Craig; Jaroslaw Marszalek
Journal:  Trends Biochem Sci       Date:  2017-03-15       Impact factor: 13.807

4.  Native mutant huntingtin in human brain: evidence for prevalence of full-length monomer.

Authors:  Ellen Sapp; Antonio Valencia; Xueyi Li; Neil Aronin; Kimberly B Kegel; Jean-Paul Vonsattel; Anne B Young; Nancy Wexler; Marian DiFiglia
Journal:  J Biol Chem       Date:  2012-02-27       Impact factor: 5.157

5.  Huntington's disease: from disease mechanisms to therapies.

Authors:  Craig Blackstone
Journal:  Drug Discov Today       Date:  2014-04-30       Impact factor: 7.851

Review 6.  Physicochemical properties of cells and their effects on intrinsically disordered proteins (IDPs).

Authors:  Francois-Xavier Theillet; Andres Binolfi; Tamara Frembgen-Kesner; Karan Hingorani; Mohona Sarkar; Ciara Kyne; Conggang Li; Peter B Crowley; Lila Gierasch; Gary J Pielak; Adrian H Elcock; Anne Gershenson; Philipp Selenko
Journal:  Chem Rev       Date:  2014-06-05       Impact factor: 60.622

Review 7.  Mechanism and Regulation of Autophagy and Its Role in Neuronal Diseases.

Authors:  Zhiping Hu; Binbin Yang; Xiaoye Mo; Han Xiao
Journal:  Mol Neurobiol       Date:  2014-10-15       Impact factor: 5.590

8.  Serine 421 regulates mutant huntingtin toxicity and clearance in mice.

Authors:  Ian H Kratter; Hengameh Zahed; Alice Lau; Andrey S Tsvetkov; Aaron C Daub; Kurt F Weiberth; Xiaofeng Gu; Frédéric Saudou; Sandrine Humbert; X William Yang; Alex Osmand; Joan S Steffan; Eliezer Masliah; Steven Finkbeiner
Journal:  J Clin Invest       Date:  2016-08-15       Impact factor: 14.808

Review 9.  Modeling Huntington's disease with induced pluripotent stem cells.

Authors:  Julia A Kaye; Steven Finkbeiner
Journal:  Mol Cell Neurosci       Date:  2013-02-28       Impact factor: 4.314

10.  Heat shock promotes inclusion body formation of mutant huntingtin (mHtt) and alleviates mHtt-induced transcription factor dysfunction.

Authors:  Justin Y Chen; Miloni Parekh; Hadear Seliman; Dariya Bakshinskaya; Wei Dai; Kelvin Kwan; Kuang Yu Chen; Alice Y C Liu
Journal:  J Biol Chem       Date:  2018-08-24       Impact factor: 5.157

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