Literature DB >> 27940602

Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.

Maria Jimenez-Sanchez1, Floriana Licitra1, Benjamin R Underwood2, David C Rubinsztein1.   

Abstract

Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Finally, we outline some of the therapeutic strategies that are currently being pursued to slow down the disease.
Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2017        PMID: 27940602      PMCID: PMC5495055          DOI: 10.1101/cshperspect.a024240

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  247 in total

1.  Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.

Authors:  M T Usdin; P F Shelbourne; R M Myers; D V Madison
Journal:  Hum Mol Genet       Date:  1999-05       Impact factor: 6.150

2.  Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene.

Authors:  J R O'Kusky; J Nasir; F Cicchetti; A Parent; M R Hayden
Journal:  Brain Res       Date:  1999-02-13       Impact factor: 3.252

3.  Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology.

Authors:  C A Gutekunst; S H Li; H Yi; J S Mulroy; S Kuemmerle; R Jones; D Rye; R J Ferrante; S M Hersch; X J Li
Journal:  J Neurosci       Date:  1999-04-01       Impact factor: 6.167

4.  Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

Authors:  C J Cummings; E Reinstein; Y Sun; B Antalffy; Y Jiang; A Ciechanover; H T Orr; A L Beaudet; H Y Zoghbi
Journal:  Neuron       Date:  1999-12       Impact factor: 17.173

5.  Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization.

Authors:  A Sawa; G W Wiegand; J Cooper; R L Margolis; A H Sharp; J F Lawler; J T Greenamyre; S H Snyder; C A Ross
Journal:  Nat Med       Date:  1999-10       Impact factor: 53.440

6.  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

7.  Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease.

Authors:  N Georgiou; J L Bradshaw; E Chiu; A Tudor; L O'Gorman; J G Phillips
Journal:  Mov Disord       Date:  1999-03       Impact factor: 10.338

8.  Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70.

Authors:  J M Warrick; H Y Chan; G L Gray-Board; Y Chai; H L Paulson; N M Bonini
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

9.  Influence of lamotrigine on progression of early Huntington disease: a randomized clinical trial.

Authors:  B Kremer; C M Clark; E W Almqvist; L A Raymond; P Graf; C Jacova; M Mezei; M A Hardy; B Snow; W Martin; M R Hayden
Journal:  Neurology       Date:  1999-09-22       Impact factor: 9.910

10.  Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.

Authors:  C C Huang; P W Faber; F Persichetti; V Mittal; J P Vonsattel; M E MacDonald; J F Gusella
Journal:  Somat Cell Mol Genet       Date:  1998-07
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  67 in total

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Journal:  Cold Spring Harb Perspect Biol       Date:  2018-04-02       Impact factor: 10.005

2.  Lining up for quality control: linear ubiquitin and proteotoxicity.

Authors:  R Luke Wiseman
Journal:  EMBO J       Date:  2019-04-11       Impact factor: 11.598

Review 3.  Prion-Like Characteristics of Polyglutamine-Containing Proteins.

Authors:  Margaret M P Pearce; Ron R Kopito
Journal:  Cold Spring Harb Perspect Med       Date:  2018-02-01       Impact factor: 6.915

Review 4.  Autophagy in neurodegenerative diseases: pathogenesis and therapy.

Authors:  Fang Guo; Xinyao Liu; Huaibin Cai; Weidong Le
Journal:  Brain Pathol       Date:  2017-08-06       Impact factor: 6.508

Review 5.  The role of TGF-β superfamily signaling in neurological disorders.

Authors:  Risa Kashima; Akiko Hata
Journal:  Acta Biochim Biophys Sin (Shanghai)       Date:  2018-01-01       Impact factor: 3.848

6.  Iron and manganese-related CNS toxicity: mechanisms, diagnosis and treatment.

Authors:  Pan Chen; Melissa Totten; Ziyan Zhang; Hana Bucinca; Keith Erikson; Abel Santamaría; Aaron B Bowman; Michael Aschner
Journal:  Expert Rev Neurother       Date:  2019-02-21       Impact factor: 4.618

Review 7.  The Emerging Roles of Ferroptosis in Huntington's Disease.

Authors:  Yajing Mi; Xingchun Gao; Hao Xu; Yuanyuan Cui; Yuelin Zhang; Xingchun Gou
Journal:  Neuromolecular Med       Date:  2019-01-02       Impact factor: 3.843

8.  High-Throughput Functional Analysis Distinguishes Pathogenic, Nonpathogenic, and Compensatory Transcriptional Changes in Neurodegeneration.

Authors:  Ismael Al-Ramahi; Boxun Lu; Simone Di Paola; Kaifang Pang; Maria de Haro; Ivana Peluso; Tatiana Gallego-Flores; Nazish T Malik; Kelly Erikson; Benjamin A Bleiberg; Matthew Avalos; George Fan; Laura Elizabeth Rivers; Andrew M Laitman; Javier R Diaz-García; Marc Hild; James Palacino; Zhandong Liu; Diego L Medina; Juan Botas
Journal:  Cell Syst       Date:  2018-06-20       Impact factor: 10.304

Review 9.  Exploring the Role of Autophagy Dysfunction in Neurodegenerative Disorders.

Authors:  Tarapati Rana; Tapan Behl; Aayush Sehgal; Vineet Mehta; Sukhbir Singh; Saurabh Bhatia; Ahmed Al-Harrasi; Simona Bungau
Journal:  Mol Neurobiol       Date:  2021-07-02       Impact factor: 5.590

10.  Shedding a new light on Huntington's disease: how blood can both propagate and ameliorate disease pathology.

Authors:  Marie Rieux; Melanie Alpaugh; Giacomo Sciacca; Martine Saint-Pierre; Maria Masnata; Hélèna L Denis; Sébastien A Lévesque; Frank Herrmann; Chantal Bazenet; Alexandre P Garneau; Paul Isenring; Ray Truant; Abid Oueslati; Peter V Gould; Anne Ast; Erich E Wanker; Steve Lacroix; Francesca Cicchetti
Journal:  Mol Psychiatry       Date:  2020-06-08       Impact factor: 15.992

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