Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

The biology of huntingtin

F Saudou, S Humbert - Neuron, 2016 - cell.com
Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine
stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative …

Molecular mechanisms and potential therapeutical targets in Huntington's disease

C Zuccato, M Valenza, E Cattaneo - Physiological reviews, 2010 - journals.physiology.org
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …

Dynamic protein-protein interaction wiring of the human spliceosome

A Hegele, A Kamburov, A Grossmann, C Sourlis… - Molecular cell, 2012 - cell.com
More than 200 proteins copurify with spliceosomes, the compositionally dynamic RNPs
catalyzing pre-mRNA splicing. To better understand protein-protein interactions governing …

The cryo-electron microscopy structure of huntingtin

Q Guo, B Huang, J Cheng, M Seefelder, T Engler… - Nature, 2018 - nature.com
Huntingtin (HTT) is a large (348 kDa) protein that is essential for embryonic development
and is involved in diverse cellular activities such as vesicular transport, endocytosis …

PROSPER: an integrated feature-based tool for predicting protease substrate cleavage sites

J Song, H Tan, AJ Perry, T Akutsu, GI Webb… - PloS one, 2012 - journals.plos.org
The ability to catalytically cleave protein substrates after synthesis is fundamental for all
forms of life. Accordingly, site-specific proteolysis is one of the most important post …

Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis

JD Godin, K Colombo, M Molina-Calavita, G Keryer… - Neuron, 2010 - cell.com
Huntingtin is the protein mutated in Huntington's disease, a devastating neurodegenerative
disorder. We demonstrate here that huntingtin is essential to control mitosis. Huntingtin is …

Cohesin‐SA1 deficiency drives aneuploidy and tumourigenesis in mice due to impaired replication of telomeres

S Remeseiro, A Cuadrado, M Carretero… - The EMBO …, 2012 - embopress.org
Cohesin is a protein complex originally identified for its role in sister chromatid cohesion,
although increasing evidence portrays it also as a major organizer of interphase chromatin …

Huntingtin facilitates polycomb repressive complex 2

IS Seong, JM Woda, JJ Song, A Lloret… - Human molecular …, 2010 - academic.oup.com
Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine
segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant …

Physical chemistry of polyglutamine: intriguing tales of a monotonous sequence

R Wetzel - Journal of molecular biology, 2012 - Elsevier
Polyglutamine (polyQ) sequences of unknown normal function are present in a significant
number of proteins, and their repeat expansion is associated with a number of genetic …