Results 81 to 90 of about 9,196 (170)

Lipid composition controls the huntingtin exon 1 membrane‐association and differentially modulates its flanking regions' dynamics

Protein Science, Volume 35, Issue 6, June 2026.
Abstract The pathological expansion of the polyglutamine (polyQ) repeat within the first exon of huntingtin (Httex1) protein is a defining hallmark of Huntington's disease (HD). Multiple evidence supports that the membrane recruitment of Httex1 is critical for its self‐assembly and related toxicity in HD.
Tânia Sousa, Gonçalo Damas, Ana Coutinho, Nuno Bernardes, Ana Azevedo, Manuel Prieto, Ana M. Melo   +6 more
wiley   +1 more source

Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array Group [PDF]

Human Molecular Genetics, 2002
Advances in molecular biology and genetics have allowed researchers to probe function and dysfunction at the level of the individual gene and/or protein. The integration of such information into an understanding of function has been a challenge facing all molecular geneticists and has contributed to the widening gap between molecular and systems ...
openaire   +2 more sources

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Cell Reports, 2019
Summary: Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene.
Jacqueline M. Ward, Colleen A. Stoyas, Pawel M. Switonski, Farid Ichou, Weiwei Fan, Brett Collins, Christopher E. Wall, Isaac Adanyeguh, Chenchen Niu, Bryce L. Sopher, Chizuru Kinoshita, Richard S. Morrison, Alexandra Durr, Alysson R. Muotri, Ronald M. Evans, Fanny Mochel, Albert R. La Spada   +16 more
doaj   +1 more source

RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis

Frontiers in Cellular Neuroscience, 2014
Gene transcription produces a wide variety of ribonucleic acid (RNA) species in eukaryotes. Individual types of RNA, such as messenger, structural and regulatory RNA, are known to play distinct roles in the cell.
Ho Yin Edwin Chan
doaj   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, Volume 293, Issue 11, Page 3376-3398, June 2026.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Amyloid-mediated sequestration of essential proteins contributes to mutant huntingtin toxicity in yeast.

PLoS ONE, 2012
BackgroundPolyglutamine expansion is responsible for several neurodegenerative disorders, among which Huntington disease is the most well-known. Studies in the yeast model demonstrated that both aggregation and toxicity of a huntingtin (htt) protein with
Natalia V Kochneva-Pervukhova, Alexander I Alexandrov, Michael D Ter-Avanesyan   +2 more
doaj   +1 more source

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases

Frontiers in Molecular Neuroscience, 2013
Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation.
Eulalia eMarti, Eulalia eMarti, Xavier eEstivill, Xavier eEstivill   +3 more
doaj   +1 more source

Directed PCR-free engineering of highly repetitive DNA sequences

BMC Biotechnology, 2011
Background Highly repetitive nucleotide sequences are commonly found in nature e.g. in telomeres, microsatellite DNA, polyadenine (poly(A)) tails of eukaryotic messenger RNA as well as in several inherited human disorders linked to trinucleotide repeat ...
Preissler Steffen, Scior Annika, Koch Miriam, Deuerling Elke   +3 more
doaj   +1 more source

Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL

Neurobiology of Disease, 2006
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disease caused by polyglutamine-expanded ataxin-3. In the present study, we expressed disease-causing mutant ataxin-3-Q79 in neuronal cultures of cerebellum, striatum and ...
An-Hsun Chou, Tu-Hsueh Yeh, Yu-Li Kuo, Yu-Cheng Kao, Mei-Jie Jou, Chia-Yu Hsu, Shu-Ru Tsai, Akira Kakizuka, Hung-Li Wang   +8 more
doaj   +1 more source

Probing the polyglutamine puzzle in neurological disorders [PDF]

FEBS Letters, 2000
Brahmachari, Samir K, Sharma, Deepak, Sharma, Sunitha, Pasha, Santosh, Sen, Somdatta, Saleem, Quasar   +5 more
openaire   +2 more sources