Results 21 to 30 of about 10,466,444 (219)

Correlative light and electron microscopy suggests that mutant huntingtin dysregulates the endolysosomal pathway in presymptomatic Huntington’s disease

Acta Neuropathologica Communications, 2021
Huntington’s disease (HD) is a late onset, inherited neurodegenerative disorder for which early pathogenic events remain poorly understood. Here we show that mutant exon 1 HTT proteins are recruited to a subset of cytoplasmic aggregates in the cell ...
Ya Zhou, Thomas R. Peskett, Christian Landles, John B. Warner, Kirupa Sathasivam, Edward J. Smith, Shu Chen, Ronald Wetzel, Hilal A. Lashuel, Gillian P. Bates, Helen R. Saibil   +10 more
doaj   +1 more source

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

Rating scales for behavioural symptoms in Huntington's Disease: critique and recommendations [PDF]

, 2016
Behavioral symptoms are an important feature of Huntington’s disease and contribute to impairment in quality of life. The Movement Disorder Society commissioned the assessment of the clinimetric properties of rating scales in Huntington’s disease in ...
Bachoud-Levi, Banaszkiewicz, Baudic, Beglinger, Beglinger, Beglinger, Blackwell, Brugger, Brusa, Burns, Callaghan, Chatterjee, Como, Craig, Craufurd, Curtis, Dale, Decruyenaere, Delmaire, Dominguez, DudokdeWit, Duff, Duijn, Duijn, Duijn, Duijn, Epping, Gargiulo, Gray, Group, Hamilton, Hamilton, Ho, Holl, Horowitz, Hubers, Jankovic, Justo, Kingma, Kloppel, Kulisevsky, Leroi, Levy, Litvan, Lucetti, Lundervold, Lundin, Marder, Mayberg, Mestre, Meyer, Moulton, Naarding, Nimmagadda, Orth, Paulsen, Paulsen, Peavy, Pflanz, Poudel, Reedeker, Reedeker, Rees, Reilmann, Rickards, Rickards, Schrag, Sitek, Sitek, Snaith, Souza, Spielberger, Sprengelmeyer, Starkstein, Stout, Tabrizi, Tippett, Vassos, Vitale, Watson, Wetzel, Wing, Wong, Yebenes, Zappacosta   +84 more
core   +1 more source

Molecular Pathophysiological Mechanisms in Huntington’s Disease

Biomedicines, 2022
Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4. In the following
Anamaria Jurcău
semanticscholar   +1 more source

Intrabody Gene Therapy Ameliorates Motor, Cognitive, and Neuropathological Symptoms in Multiple Mouse Models of Huntington's Disease [PDF]

, 2009
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease resulting from the expansion of a glutamine repeat in the huntingtin (Htt) protein.
Ko, Jan, Patterson, Paul H., Southwell, Amber L.   +2 more
core   +2 more sources

The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]

, 2020
Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro, Betuing, Sandrine, Caboche, Jocelyne, Carmo-Silva, Sara, Cartier, Nathalie, Conceição, André, Costa, Rafael G, Koppenol, Rebekah, Marcelo, Adriana, Matos, Carlos A, Nunes, Ricardo, Nóbrega, Clévio, Sequeira, Raquel L.   +12 more
core   +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

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

Health Care Delivery Practices in Huntington's Disease Specialty Clinics : An International Survey [PDF]

, 2016
The CHDI Foundation, Inc. funds Enroll-HD and the activities of the Enroll-HD Care Improvement Committee, including the present survey. We would like to acknowledge the Enroll-HD and REGISTRY administrative staff that assisted in the recruitment of sites
Edmondson, Mary, Frich, Jan C., Giuliano, Joe, Goodman, LaVonne, Guttman, Mark, Haddad, Monica S., Miedzybrodzka, Zofia H., Nance, Martha, Nelson, Eugene C., Pope, Erika Bjorklund, Rae, Daniela, Roxburgh, Richard   +11 more
core   +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, Mariacristina 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