Results 21 to 30 of about 93,886 (309)

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

MODELLING GAIT SYNDROME IN HUNTINGTON’S DISEASE: THE GENETIC ALGORITHM APPROACH

Nigerian Journal of Technology, 2017
Huntington’s disease (HD) which usually affects the patients at middle age results from malfunctioning of the basal ganglia. It is characterized by cognitive impairment, involuntary movements, neuropsychiatric and psychological disturbances. Early motor signs of Huntington’s disease typically include the gradual onset of clumsiness, balance ...
Ajibola, OOE, Ogunwolu, L
openaire   +3 more sources

Risk-taking and pathological gambling behavior in Huntington’s disease [PDF]

Frontiers in Behavioral Neuroscience, 2014
Huntington's disease (HD) is a genetic, neurodegenerative disorder, which specifically affects striatal neurons of the indirect pathway, resulting in a progressive decline in muscle coordination and loss of emotional and cognitive control. Interestingly, predisposition to pathological gambling and other addictions involves disturbances in the same ...
Kalkhoven, C.E., Sennef, C., Peeters, A., Bos, R. van den   +3 more
openaire   +4 more sources

Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease [PDF]

, 2015
ACKNOWLEDGEMENTS We thank the PREDICT-HD sites, the study participants, the National Research Roster for Huntington Disease Patients and Families, the Huntington’s Disease Society of America and the Huntington Study Group.
Downing, Nancy, Kim, Ji-In, Long, Jeffrey D, Miedzybrodzka, Zofia Helena, Mills, James A, Paulsen, Jane S, PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Williams, Janet K   +7 more
core   +1 more source

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

Studies on the Q175 Knock-in Model of Huntington’s Disease Using Functional Imaging in Awake Mice: Evidence of Olfactory Dysfunction [PDF]

Frontiers in Neurology, 2014
Blood oxygen level dependent (BOLD) imaging in awake mice was used to identify differences in brain activity between wild-type, HETzQ175, and HOMzQ175 genotypes in response to the odor of almond. The study was designed to see how alterations in the huntingtin gene in a mouse model of Huntington's disease would affect the perception and processing of ...
Ferris, Craig F., Kulkarni, Praveen, Toddes, Steven, Yee, Jason, Kenkel, William, Nedelman, Mark   +5 more
openaire   +3 more sources

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

Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. [PDF]

, 2015
Quantification of disease-associated proteins in the cerebrospinal fluid (CSF) has been critical for the study and treatment of several neurodegenerative disorders; however, mutant huntingtin protein (mHTT), the cause of Huntington's disease (HD), is at ...
Andreas Weiss, Benjamini, Blair R. Leavitt, Douglas Langbehn, Douglas Macdonald, Edward J. Wild, Henrik Zetterberg, James R.C. Miller, Jeromin, Ko, Lewczuk, Nicola Robertson, Rainer Kuhn, Roberto Boggio, Rosengren, Salman Haider, Sarah J. Tabrizi   +16 more
core   +1 more source

Time-Restricted Feeding Improves Circadian Dysfunction as well as Motor Symptoms in the Q175 Mouse Model of Huntington's Disease. [PDF]

, 2018
Huntington's disease (HD) patients suffer from a progressive neurodegeneration that results in cognitive, psychiatric, cardiovascular, and motor dysfunction.
Colwell, Christopher S, Cutler, Tamara, Howland, David, Loh, Dawn H, Wang, Huei-Bin, Whittaker, Daniel S   +5 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