Literature DB >> 34169318

Huntington's disease: nearly four decades of human molecular genetics.

James F Gusella1,2,3, Jong-Min Lee1,2,4, Marcy E MacDonald1,2,4.   

Abstract

Huntington's disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder has acted as a flagship for the application of human molecular genetic strategies to identify disease genes, understand pathogenesis and identify rational targets for development of therapies.
© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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Year:  2021        PMID： 34169318      PMCID： PMC8490011          DOI： 10.1093/hmg/ddab170

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   5.121


  94 in total

Review 1.  Genetic modifiers of Huntington's disease.

Authors:  James F Gusella; Marcy E MacDonald; Jong-Min Lee
Journal:  Mov Disord       Date:  2014-08-25       Impact factor: 10.338

2.  Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain.

Authors:  M DiFiglia; E Sapp; K O Chase; S W Davies; G P Bates; J P Vonsattel; N Aronin
Journal:  Science       Date:  1997-09-26       Impact factor: 47.728

Review 3.  Spontaneous self-assembly of pathogenic huntingtin exon 1 protein into amyloid structures.

Authors:  Philipp Trepte; Nadine Strempel; Erich E Wanker
Journal:  Essays Biochem       Date:  2014       Impact factor: 8.000

4.  Preparing for preventive clinical trials: the Predict-HD study.

Authors:  Jane S Paulsen; Michael Hayden; Julie C Stout; Douglas R Langbehn; Elizabeth Aylward; Christopher A Ross; Mark Guttman; Martha Nance; Karl Kieburtz; David Oakes; Ira Shoulson; Elise Kayson; Shannon Johnson; Elizabeth Penziner
Journal:  Arch Neurol       Date:  2006-06

5.  Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.

Authors:  Kyung-Hee Kim; Eun Pyo Hong; Jun Wan Shin; Michael J Chao; Jacob Loupe; Tammy Gillis; Jayalakshmi S Mysore; Peter Holmans; Lesley Jones; Michael Orth; Darren G Monckton; Jeffrey D Long; Seung Kwak; Ramee Lee; James F Gusella; Marcy E MacDonald; Jong-Min Lee
Journal:  Am J Hum Genet       Date:  2020-06-25       Impact factor: 11.025

6.  The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.

Authors:  Karen E Anderson; Shirley Eberly; Karen S Marder; David Oakes; Elise Kayson; Anne Young; Ira Shoulson
Journal:  Clin Genet       Date:  2019-05-15       Impact factor: 4.438

7.  Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.

Authors:  Kirupa Sathasivam; Andreas Neueder; Theresa A Gipson; Christian Landles; Agnesska C Benjamin; Marie K Bondulich; Donna L Smith; Richard L M Faull; Raymund A C Roos; David Howland; Peter J Detloff; David E Housman; Gillian P Bates
Journal:  Proc Natl Acad Sci U S A       Date:  2013-01-22       Impact factor: 11.205

8.  Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.

Authors:  Ella Dragileva; Audrey Hendricks; Allison Teed; Tammy Gillis; Edith T Lopez; Errol C Friedberg; Raju Kucherlapati; Winfried Edelmann; Kathryn L Lunetta; Marcy E MacDonald; Vanessa C Wheeler
Journal:  Neurobiol Dis       Date:  2008-09-30       Impact factor: 5.996

9.  Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.

Authors: 
Journal:  Cell       Date:  2015-07-30       Impact factor: 41.582

10.  Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.

Authors:  Jacob M Loupe; Ricardo Mouro Pinto; Kyung-Hee Kim; Tammy Gillis; Jayalakshmi S Mysore; Marissa A Andrew; Marina Kovalenko; Ryan Murtha; IhnSik Seong; James F Gusella; Seung Kwak; David Howland; Ramee Lee; Jong-Min Lee; Vanessa C Wheeler; Marcy E MacDonald
Journal:  Hum Mol Genet       Date:  2020-11-04       Impact factor: 6.150
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  2 in total

1.  Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort.

Authors:  Martina Petracca; Sonia Di Tella; Marcella Solito; Paola Zinzi; Maria Rita Lo Monaco; Giulia Di Lazzaro; Paolo Calabresi; Maria Caterina Silveri; Anna Rita Bentivoglio
Journal:  Eur J Neurol       Date:  2022-04-17       Impact factor: 6.288

Review 2.  Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.

Authors:  Manuel Seefelder; Fabrice A C Klein; Bernhard Landwehrmeyer; Rubén Fernández-Busnadiego; Stefan Kochanek
Journal:  J Huntingtons Dis       Date:  2022
  2 in total

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