Literature DB >> 25062728

Huntingtin: here, there, everywhere!

Cristovao Marques Sousa1, Sandrine Humbert1.   

Abstract

Huntingtin is the protein mutated in Huntington disease, a dominant inherited neurodegenerative disorder. Huntingtin is ubiquitously expressed throughout the body, however its role outside the central nervous system has been overlooked. This review focuses on the peripheral distribution of huntingtin. It also highlights that huntingtin has central cellular functions, the importance of which may extend beyond the nervous system. Because of the breadth of huntingtin expression and functions, mutant huntingtin undoubtedly causes peripheral disturbances and may be involved in other non neuronal pathologies.

Entities:  

Keywords:  Huntingtin; expression pattern; huntingtin function; peripheral tissues

Mesh:

Substances:

Year:  2013        PMID: 25062728     DOI: 10.3233/JHD-130082

Source DB:  PubMed          Journal:  J Huntingtons Dis        ISSN: 1879-6397


  18 in total

1.  Loss-of-Huntingtin in Medial and Lateral Ganglionic Lineages Differentially Disrupts Regional Interneuron and Projection Neuron Subtypes and Promotes Huntington's Disease-Associated Behavioral, Cellular, and Pathological Hallmarks.

Authors:  Mark F Mehler; Jenna R Petronglo; Eduardo E Arteaga-Bracho; Maria E Gulinello; Michael L Winchester; Nandini Pichamoorthy; Stephen K Young; Christopher D DeJesus; Hifza Ishtiaq; Solen Gokhan; Aldrin E Molero
Journal:  J Neurosci       Date:  2019-01-09       Impact factor: 6.167

Review 2.  Huntington's disease: the coming of age.

Authors:  Mritunjay Pandey; Usha Rajamma
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

3.  CAG repeat size in Huntingtin alleles is associated with cancer prognosis.

Authors:  Morgane Sonia Thion; Sophie Tézenas du Montcel; Jean-Louis Golmard; Sophie Vacher; Laure Barjhoux; Valérie Sornin; Cécile Cazeneuve; Ivan Bièche; Olga Sinilnikova; Dominique Stoppa-Lyonnet; Alexandra Durr; Sandrine Humbert
Journal:  Eur J Hum Genet       Date:  2016-03-16       Impact factor: 4.246

4.  Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.

Authors:  Aram Shin; Baehyun Shin; Jun Wan Shin; Kyung-Hee Kim; Ranjit S Atwal; Jennifer M Hope; Tammy Gillis; John D Leszyk; Scott A Shaffer; Ramee Lee; Seung Kwak; Marcy E MacDonald; James F Gusella; Ihn Sik Seong; Jong-Min Lee
Journal:  Hum Mol Genet       Date:  2017-04-01       Impact factor: 6.150

Review 5.  Current and Possible Future Therapeutic Options for Huntington's Disease.

Authors:  Mackenzie W Ferguson; Connor J Kennedy; Thulani H Palpagama; Henry J Waldvogel; Richard L M Faull; Andrea Kwakowsky
Journal:  J Cent Nerv Syst Dis       Date:  2022-05-21

6.  Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT.

Authors:  Anjalika Chongtham; Douglas J Bornemann; Brett A Barbaro; Tamas Lukacsovich; Namita Agrawal; Adeela Syed; Shane Worthge; Judith Purcell; John Burke; Theodore M Chin; J Lawrence Marsh
Journal:  Hum Mol Genet       Date:  2020-03-13       Impact factor: 6.150

Review 7.  Cell-Autonomous and Non-cell-Autonomous Pathogenic Mechanisms in Huntington's Disease: Insights from In Vitro and In Vivo Models.

Authors:  Jordi Creus-Muncunill; Michelle E Ehrlich
Journal:  Neurotherapeutics       Date:  2019-10       Impact factor: 7.620

8.  RACK1 modulates polyglutamine-induced neurodegeneration by promoting ERK degradation in Drosophila.

Authors:  Jun Xie; Yongchao Han; Tao Wang
Journal:  PLoS Genet       Date:  2021-05-13       Impact factor: 5.917

9.  Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells.

Authors:  Carla Lopes; Sophie Aubert; Fany Bourgois-Rocha; Monia Barnat; Ana Cristina Rego; Nicole Déglon; Anselme L Perrier; Sandrine Humbert
Journal:  PLoS One       Date:  2016-02-10       Impact factor: 3.240

10.  Age-associated chromatin relaxation is enhanced in Huntington's disease mice.

Authors:  Myungsun Park; Byungkuk Min; Kyuheum Jeon; Sunwha Cho; Jung Sun Park; Jisun Kim; Jeha Jeon; Jinhoi Song; Seokho Kim; Sangkyun Jeong; Hyemyung Seo; Yong-Kook Kang
Journal:  Aging (Albany NY)       Date:  2017-03-12       Impact factor: 5.682

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