Results 31 to 40 of about 10,552,439 (323)

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
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

Huntington's disease: a clinical review

European Journal of Neurology, 2018
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4.
P. McColgan, S. Tabrizi
semanticscholar   +1 more source

Huntington’s disease alters human neurodevelopment

Science, 2020
Neural progenitors disrupted Symptoms of Huntington's disease (HD) manifest in adulthood despite the aberrant protein being present much earlier in persons carrying the disease-causing mutation. Barnat et al.
M. Barnat, M. Capizzi, Esther Aparicio, Susana Boluda, Doris Wennagel, Radhia Kacher, Rayane Kassem, Sophie Lenoir, F. Agasse, B. Y. Braz, Jeh-Ping Liu, J. Ighil, A. Tessier, S. Zeitlin, C. Duyckaerts, M. Dommergues, A. Durr, S. Humbert   +17 more
semanticscholar   +1 more source

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

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases, 2010
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
R. Roos
semanticscholar   +1 more source

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

Targeting Huntingtin Expression in Patients with Huntington's Disease.

New England Journal of Medicine, 2019
BACKGROUND Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingtin protein.
S. Tabrizi, B. Leavitt, G. Landwehrmeyer, E. Wild, C. Saft, Roger A. Barker, Nick F. Blair, D. Craufurd, J. Priller, H. Rickards, A. Rosser, H. Kordasiewicz, C. Czech, E. Swayze, D. Norris, Tiffany L. Baumann, I. Gerlach, S. Schobel, E. Paz, Anne V Smith, C. Bennett, Roger M. Lane   +21 more
semanticscholar   +1 more source

Microbiome profiling reveals gut dysbiosis in a transgenic mouse model of Huntington's disease.

Neurobiology of Disease, 2020
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin (HTT) gene, which is expressed ubiquitously throughout the brain and peripheral tissues.
Geraldine Kong, Kim-Anh Lê Cao, L. Judd, Shanshan Li, T. Renoir, A. Hannan   +5 more
semanticscholar   +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
core   +1 more source