Results 21 to 30 of about 4,904,701 (256)

SUMO-modifying Huntington’s disease

IBRO Neuroscience Reports, 2022
Small ubiquitin-like modifiers, SUMOs, are proteins that are conjugated to target substrates and regulate their functions in a post-translational modification called SUMOylation.
Ericks S. Soares, Rui D. Prediger, Patricia S. Brocardo, Helena I. Cimarosti   +3 more
doaj   +1 more source

Exploring the Reliability and Validity of the Huntington’s Disease Quality of Life Battery for Carers (HDQoL-C) within A Polish Population [PDF]

, 2019
Huntington’s disease (HD) is a rare genetic neurodegenerative disorder that causes motor disorders, neuropsychiatric symptoms and a progressing deterioration of cognitive functions.
Aubeeluck, Aimee, ?lusarska, Barbara, Aubeeluck, Aimeee, Stupple, Edward, Bartoszek, Adrian, Adrian Bartoszek, Barbara Ślusarska, Edward Stupple, Katarzyna Kocka, Kocka, K, Ślusarska, B, Stupple, Edward J. N., Bartoszek, Agnieszka, Kocka, Katarzyna, Aimee Aubeeluck, Bartoszek, A, Agnieszka Bartoszek   +16 more
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Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]

, 2010
HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano, Flaviano Giorgini (58325), Robert Mason (3269031), Sajjad, MU, Hands, Sarah L., M. Umar Sajjad, Wyttenbach, Andreas, Robert Mason, Wyttenbach, A, Mason, Robert, Andreas Wyttenbach, Andreas Wyttenbach (7595339), Umar Sajjad, M., Sarah L. Hands, M. Umar Sajjad (7595336), Sarah L. Hands (7595333), Flaviano Giorgini, Hands, SL, Mason, R; id_orcid   +18 more
core   +1 more source

Regulatory mechanisms of incomplete huntingtin mRNA splicing

Nature Communications, 2018
Incomplete splicing of HTT results in the production of the highly pathogenic exon 1 HTT protein. Here the authors identify the necessary intronic regions and the underlying mechanisms that contribute to this process.
Andreas Neueder, Anaelle A. Dumas, Agnesska C. Benjamin, Gillian P. Bates   +3 more
doaj   +1 more source

Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level : an application in Huntington disease [PDF]

, 2014
This work was supported by the European Union under the Seventh Framework programme– PADDINGTON Project, Grant Agreement No. 261358, and the European Huntington’s Disease Network (EHDN), project 070 – PADDINGTON.Background: Corrupted gradient directions (
Landwehrmeyer, G.B., Muller, H.P., Müller, H.-P., Hobbs, N.Z., Kassubek, J., Orth, M., Tabrizi, S.J., Klöppel, S., Sprengelmeyer, R., Ludolph, A.C., Süssmuth, S.D., Grön, G., Duerr, A., Roos, R.A.C.   +13 more
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Huntington's disease: An immune perspective [PDF]

, 2011
Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Kishore, U, Domenico Marco Bonifati, Ansar, R, Verma, SK, Rafia Ansar, Nayak, A, Sunil K. Verma, Annapurna Nayak, Bonifati, DM, Uday Kishore   +9 more
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Evidence for dynamic and multiple roles for huntingtin in Ciona intestinalis [PDF]

, 2013
Although mutations in the huntingtin gene (HTT) due to poly-Q expansion cause neuropathology in humans (Huntington’s disease; HD), the normal function(s) of the gene and its protein (HTT) remain obscure.
Idris, Mohammed M, Thorndyke, Michael C.,, Brown, Euan R., Brown, Euan R.; id_orcid, Idris, Mohammed M., Thorndyke, Michael C   +5 more
core   +1 more source

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

Scientific Reports, 2017
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein.
Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates   +7 more
doaj   +1 more source

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

, 2011
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Juliane Winkelmann, Meisenzahl Eva M., Rujescu Dan, Rujescu, D., Giegling Ina, Gaser, C., Mühlau Mark, Eva M. Meisenzahl, Giegling, Ina, Winkelmann, Juliane, Winkelmann Juliane, Dan Rujescu, Meisenzahl, E.M., Adolph Weindl, Reiser Maximilian, Ina Giegling, Arsic, M., Winkelmann, J., Meisenzahl, Eva M., Koutsouleris Nikolaos, Gaser, Christian, Koutsouleris, Nikolaos, Christian Gaser, Reiser, M., Reiser, Maximilian, Gaser Christian, Mühlau, Mark, Giegling, I., Nikolaos Koutsouleris, Weindl Adolph, Mühlau, M., Arsic Milan, Mark Mühlau, Maximilian Reiser, Milan Arsic, Koutsouleris, N., Weindl, A., Weindl, Adolph, Eva M Meisenzahl, Arsic, Milan, Rujescu, Dan   +40 more
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Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

Brain Sciences, 2021
Background: In addition to the effects on patients suffering from motor-manifest Huntington’s disease (HD), this fatal disease is devasting to people who are at risk, premanifest mutation-carriers, and especially to whole families. There is a huge burden
Jannis Achenbach, Carsten Saft
doaj   +1 more source