Results 11 to 20 of about 4,904,701 (256)

Exploring the structural relationship between interviewer and self-rated affective symptoms in Huntington’s disease [PDF]

, 2016
This study explores the structural relationship between self-report and interview measures of affect in Huntington’s disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of ...
Dale M, Ferraldeschi M, Underwood M, Rickards H, REGISTRY Investigators of the European Huntington’s Disease Network, Callaghan J, Romano S, Ristori G., Maltby J   +8 more
core   +8 more sources

The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction

Scientific Reports, 2021
Huntington’s disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains.
Casandra Gomez-Paredes, Michael A. Mason, Bridget A. Taxy, Aikaterini S. Papadopoulou, Paolo Paganetti, Gillian P. Bates   +5 more
doaj   +1 more source

Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues

Genome Biology, 2022
Background A major challenge in neurodegenerative diseases concerns identifying biological disease signatures that track with disease progression or respond to an intervention. Several clinical trials in Huntington disease (HD), an inherited, progressive
Andreas Neueder, Kerstin Kojer, Tanja Hering, Daniel J. Lavery, Jian Chen, Nathalie Birth, Jaqueline Hallitsch, Sonja Trautmann, Jennifer Parker, Michael Flower, Huma Sethi, Salman Haider, Jong-Min Lee, Sarah J. Tabrizi, Michael Orth   +14 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

Silencing Srsf6 does not modulate incomplete splicing of the huntingtin gene in Huntington’s disease models

Scientific Reports, 2020
We have previously shown that the incomplete splicing of exon 1 to exon 2 of the HTT gene results in the production of a small polyadenylated transcript (Httexon1) that encodes the highly pathogenic exon 1 HTT protein.
Michael A. Mason, Casandra Gomez-Paredes, Kirupa Sathasivam, Andreas Neueder, Aikaterini-Smaragdi Papadopoulou, Gillian P. Bates   +5 more
doaj   +1 more source

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Jonathan A Smith, Tibben, A., Ferdinando Squitieri, Bernhard Landwehrmeyer, Krysa, W., Marie-Louise Goller, Helen Santini, ‘Annunziata’ de Nicola, Oliver Quarrell, Petrollini, M., Matteo Paduanello, Landwehrmeyer, B., de Nicola, A., Virginia Eatough, Christine Eiser, Paduanello, M., Santini, H., Lee Weille, K., Aad Tibben, Smith, Jonathan A., Maria Rakowicz, Quarrell, O., Katie Lee Weille, Squitieri, F., Rakowicz, M., Eiser, C., Eatough, Virginia, Wioletta Krysa, Martina Petrollini, Goller, M.-L.   +29 more
core   +1 more source

Gene suppression approaches to neurodegeneration

Alzheimer’s Research & Therapy, 2017
Gene suppression approaches have emerged over the last 20 years as a novel therapeutic approach for the treatment of neurodegenerative diseases. These include RNA interference and anti-sense oligonucleotides, both of which act at the post-transcriptional
Rhia Ghosh, Sarah J. Tabrizi
doaj   +1 more source

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

Comprehensive behavioral testing in the R6/2 mouse model of Huntington's disease shows no benefit from CoQ10 or minocycline [PDF]

, 2010
Previous studies of the effects of coenzyme Q10 and minocycline on mouse models of Huntington’s disease have produced conflicting results regarding their efficacy in behavioral tests.
Brunner Daniela, Menalled Liliana B., Brunner, D., Signer Ethan, Liliana B Menalled, Benjamin Zahasky, Ragland Natalie, Tobin Allan J., Allan J Tobin, Larry Park, Ragland, N., Minnich, J., Leeds, J., Daniela Brunner, Jennifer Goodman, Zahasky, B., Signer, E., Leeds Janet, Howland David, Zahasky Benjamin, Goodman, J., Tobin, A.J., Patry Monica, Minnich Jennie, Ethan Signer, Goodman Jennifer, Patry, M., Menalled, L.B., Lowden, Philip A.S., Jennie Minnich, Park Larry, Phillip A S Lowden, Howland, D., Park, L., Janet Leeds, Monica Patry, Lowden Phillip A. S., David Howland, Natalie Ragland   +38 more
core   +2 more sources

Disease stage, but not sex, predicts depression and psychological distress in Huntington’s disease : A European population study

, 2015
Objective Depression and anxiety significantly affect morbidity in Huntington’s disease. Mice models of Huntington’s disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not ...
Maria Dale (7634207), S. Shimozaki (7654832), John Julian Maltby (7634057), R. Cramp (7654835), H. Rickards (7654838), REGISTRY investigators of the European Huntington’s Disease Network (7634216)   +5 more
core   +6 more sources