Results 1 to 10 of about 16,136 (210)

Altered Metabolic Signaling and Potential Therapies in Polyglutamine Diseases. [PDF]

Metabolites
Polyglutamine diseases comprise a cluster of genetic disorders involving neurodegeneration and movement disabilities. In polyglutamine diseases, the target proteins become aberrated due to polyglutamine repeat formation.
Vohra A, Keefe P, Puthanveetil P.
europepmc   +4 more sources

Activation of p38MAPK contributes to expanded polyglutamine-induced cytotoxicity. [PDF]

PLoS ONE, 2008
The signaling pathways that may modulate the pathogenesis of diseases induced by expanded polyglutamine proteins are not well understood.Herein we demonstrate that expanded polyglutamine protein cytotoxicity is mediated primarily through activation of ...
Maria Tsirigotis, R Mitchell Baldwin, Matthew Y Tang, Ian A J Lorimer, Douglas A Gray   +4 more
doaj   +3 more sources

Inhibition of Polyglutamine Misfolding with D-Enantiomeric Peptides Identified by Mirror Image Phage Display Selection [PDF]

Biomolecules, 2022
Nine heritable diseases are known that are caused by unphysiologically elongated polyglutamine tracts in human proteins leading to misfolding, aggregation and neurodegeneration.
Pauline Elisabeth Kolkwitz, Jeannine Mohrlüder, Dieter Willbold   +2 more
doaj   +2 more sources

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriers. [PDF]

Brain Commun
Barbier M, Gareau T, Camuzat A, Guillaud-Bataille M, Boluda S, Clot F, Araktingi L, Borroni B, van der Zee J, Ghidoni R, Bellini S, Galimberti D, Rossi G, Nacmias B, De la Casa-Fages B, Pastor P, French Clinical and Genetic Research Network on FTD/FTD-ALS and PrevDemALS Study Groups , Latouche M, le Guern E, Durr A, Laquerrière A, Moccia R, Seilhean D, Alvarez V, Le Ber I.   +24 more
europepmc   +3 more sources

Comparative molecular dynamics simulations of pathogenic and non-pathogenic huntingtin protein monomers and dimers

Frontiers in Molecular Biosciences, 2023
Polyglutamine expansion at the N-terminus of the huntingtin protein exon 1 (Htt-ex1) is closely associated with a number of neurodegenerative diseases, which result from the aggregation of the increased polyQ repeat.
Mohammed Khaled, Birgit Strodel, Birgit Strodel, Abdallah Sayyed-Ahmad   +3 more
doaj   +1 more source

Ubiquitin-interacting motifs of ataxin-3 regulate its polyglutamine toxicity through Hsc70-4-dependent aggregation

eLife, 2020
Spinocerebellar ataxia type 3 (SCA3) belongs to the family of polyglutamine neurodegenerations. Each disorder stems from the abnormal lengthening of a glutamine repeat in a different protein. Although caused by a similar mutation, polyglutamine disorders
Sean L Johnson, Bedri Ranxhi, Kozeta Libohova, Wei-Ling Tsou, Sokol V Todi   +4 more
doaj   +1 more source

Correction: Dihedral angle measurements for structure determination by biomolecular solid-state NMR spectroscopy. [PDF]

Front Mol Biosci
van der Wel PCA.
europepmc   +2 more sources

Novel polyglutamine model uncouples proteotoxicity from aging. [PDF]

PLoS ONE, 2014
Polyglutamine expansions in certain proteins are the genetic determinants for nine distinct progressive neurodegenerative disorders and resultant age-related dementia.
Nakeirah T M Christie, Amy L Lee, Hannah G Fay, Amelia A Gray, Elise A Kikis   +4 more
doaj   +1 more source

Pathogenetic Mechanisms Underlying Spinocerebellar Ataxia Type 3 Are Altered in Primary Oligodendrocyte Culture

Cells, 2022
Emerging evidence has implicated non-neuronal cells, particularly oligodendrocytes, in the pathophysiology of many neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, Huntington’s disease and ...
Kristen H. Schuster, Alexandra F. Putka, Hayley S. McLoughlin   +2 more
doaj   +1 more source

Insights on Microsatellite Characteristics, Evolution, and Function From the Social Amoeba Dictyostelium discoideum

Frontiers in Neuroscience, 2022
Microsatellites are repetitive sequences commonly found in the genomes of higher organisms. These repetitive sequences are prone to expansion or contraction, and when microsatellite expansion occurs in the regulatory or coding regions of genes this can ...
Felicia N. Williams, K. Matthew Scaglione, K. Matthew Scaglione, K. Matthew Scaglione   +3 more
doaj   +1 more source