Results 31 to 40 of about 21,037 (206)

Side chain to main chain hydrogen bonds stabilize a polyglutamine helix in a transcription factor

Nature Communications, 2019
Polyglutamine (polyQ) tracts are regions of low sequence complexity frequently found in transcription factors. Tract length often correlates with transcriptional activity and expansion beyond specific thresholds in certain human proteins is the cause of ...
A. Escobedo, Busra Topal, M. Kunze, J. Aranda, G. Chiesa, Daniele Mungianu, G. Bernardo-Seisdedos, B. Eftekharzadeh, M. Gairí, R. Pierattelli, I. Felli, T. Diercks, Ó. Millet, Jesús García, M. Orozco, R. Crehuet, K. Lindorff-Larsen, X. Salvatella   +17 more
semanticscholar   +1 more source

Solution structure of polyglutamine tracts in GST‐polyglutamine fusion proteins

FEBS Letters, 2002
Aggregation of expanded polyglutamine (polyQ) seems to be the cause of various genetic neurodegenerative diseases. Relatively little is known as yet about the polyQ structure and the mechanism that induces aggregation. We have characterised the solution structure of polyQ in a proteic context using a model system based on glutathione S‐transferase ...
Masino L, Kelly G, Leonard K, Trottier Y, Pastore A, RI Ebbinghaus Simon/F-2599-2012   +5 more
openaire   +4 more sources

The structural plasticity of polyglutamine repeats

Current Opinion in Structural Biology, 2023
From yeast to humans, polyglutamine (polyQ) repeat tracts are found frequently in the proteome and are particularly prominent in the activation domains of transcription factors. PolyQ is a polymorphic motif that modulates functional protein-protein interactions and aberrant self-assembly.
Barbosa Pereira, Pedro José, Manso, José A., Macedo-Ribeiro, Sandra   +2 more
openaire   +2 more sources

Polyglutamines Placed into Context

Neuron, 2003
Nine inherited neurodegenerative disorders result from polyglutamine expansions. Two recently published papers on spinocerebellar ataxia type 1, together with studies on spinobulbar muscular atrophy last year, indicate that host protein context is the key arbiter of polyglutamine disease protein toxicity.
J. Paul Taylor, Albert R. La Spada
openaire   +3 more sources

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.

JAMA Neurology, 2019
Importance Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar ...
Sarah L. Gardiner, Merel W. Boogaard, S. Trompet, R. de Mutsert, F. Rosendaal, J. Gussekloo, J. Jukema, R. Roos, N. Aziz   +8 more
semanticscholar   +1 more source

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Nature, 2010
The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative disease, are poorly understood, although the protein TDP-43 has been suggested to have a critical role in disease pathogenesis. Here we show that ataxin 2 (ATXN2), a
Andrew C. Elden, Hyung-Jun Kim, M. Hart, A. Chen-Plotkin, Brian S Johnson, X. Fang, Maria Armakola, F. Geser, Robert Greene, M. Lu, A. Padmanabhan, Dana Clay, L. McCluskey, L. Elman, Denise Juhr, P. Gruber, U. Rüb, G. Auburger, J. Trojanowski, V. Lee, V. V. Van Deerlin, N. Bonini, A. Gitler   +22 more
semanticscholar   +1 more source

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Annals of Neurology, 2016
The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases.
C. Bettencourt, Davina Hensman‐Moss, M. Flower, S. Wiethoff, A. Brice, C. Goizet, G. Stevanin, G. Koutsis, G. Karadima, M. Panas, P. Yescas-Gómez, Lizbeth E. García-Velázquez, M. Alonso‐Vilatela, M. Lima, M. Raposo, B. Traynor, M. Sweeney, N. Wood, P. Giunti, A. Durr, P. Holmans, H. Houlden, S. Tabrizi, L. Jones   +23 more
semanticscholar   +1 more source

An Exploration of the Universe of Polyglutamine Structures

PLOS Computational Biology, 2015
Deposits of misfolded proteins in the human brain are associated with the development of many neurodegenerative diseases. Recent studies show that these proteins have common traits even at the monomer level. Among them, a polyglutamine region that is present in huntingtin is known to exhibit a correlation between the length of the chain and the ...
Gómez-Sicilia, Ángel, Sikora, M., Cieplak, Marek, Carrión-Vázquez, Mariano Sixto   +3 more
openaire   +7 more sources

Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease.

Biochemistry, 2017
Several hereditary neurological and neuromuscular diseases are caused by an abnormal expansion of trinucleotide repeats. To date, there have been 10 of these trinucleotide repeat disorders associated with an expansion of the codon CAG encoding glutamine (
Adewale Adegbuyiro, Faezeh Sedighi, Albert W. Pilkington, Sharon E. Groover, J. Legleiter   +4 more
semanticscholar   +1 more source

Polyglutamine disease in peripheral tissues

Human Molecular Genetics, 2023
Abstract This year is a milestone anniversary of the discovery that Huntington’s disease is caused by the presence of expanded polyglutamine repeats in the huntingtin gene leading to the formation of huntingtin aggregates. 30 years have elapsed and there is still no cure and the only FDA-approved treatment to alleviate the debilitating ...
Barwell, Taylor, Seroude, Laurent
openaire   +3 more sources