Results 11 to 20 of about 93,886 (309)

Proteostasis in striatal cells and selective neurodegeneration in Huntington’s disease [PDF]

Frontiers in Cellular Neuroscience, 2014
Selective neuronal loss is a hallmark of neurodegenerative diseases, including Huntington's disease (HD). Although mutant huntingtin, the protein responsible for HD, is expressed ubiquitously, a subpopulation of neurons in the striatum is the first to succumb.
Julia eMargulis, Julia eMargulis, Steven eFinkbeiner, Steven eFinkbeiner, Steven eFinkbeiner   +4 more
openaire   +5 more sources

Unraveling impaired awareness: experiences of people with dementia, Huntington's disease and Korsakoff's syndrome, and their informal caregivers. [PDF]

BMC Geriatr
Fidder H, de Groot E, de Boer ME, Ekkel MR, Veenhuizen RB, Smalbrugge M, van Loon AM.   +6 more
europepmc   +2 more sources

Preserving cortico-striatal function: deep brain stimulation in Huntington’s disease [PDF]

Frontiers in Systems Neuroscience, 2015
Huntington's disease (HD) is an incurable neurodegenerative disease characterized by the triad of chorea, cognitive dysfunction and psychiatric disturbances. Since the discovery of the HD gene, the pathogenesis has been outlined, but to date a cure has not been found.
Nagel, Sean J., Machado, Andre G., Gale, John T., Lobel, Darlene A., Pandya, Mayur   +4 more
openaire   +2 more sources

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
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

Motor–Language Coupling in Huntington’s Disease Families [PDF]

Frontiers in Aging Neuroscience, 2014
Traditionally, Huntington's disease (HD) has been known as a movement disorder, characterized by motor, psychiatric, and cognitive impairments. Recent studies have shown that motor and action language processes are neurally associated. The cognitive mechanisms underlying this interaction have been investigated through the Action Compatibility Effect ...
Lucila Kargieman, Eduar Herrera, Sandra Báez, Adolfo M. García, Martín Dottori, Carlos Gelormini, Facundo Manes, Oscar S. Gershanik, Agustín Ibáñez   +8 more
openaire   +3 more sources

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

Nutritional management of individuals with Huntington’s disease: nutritional guidelines [PDF]

, 2012
The delivery of good nutritional care is a fundamental element of the management of individuals with Huntington’s disease and all patients with Huntington’s disease will, at some time, need dietary intervention because of the sequela of the disease; yet ...
Brotherton, Ailsa M, Campos, Lillian, Rae, Daniela, Rowell, Arleen, Simpson, Sheila A, Zoia, Vanessa   +5 more
core   +1 more source

Ubiquitin–proteasome system involvement in Huntington’s disease [PDF]

Frontiers in Molecular Neuroscience, 2014
Huntington's disease (HD) is a genetic autosomal dominant neurodegenerative disease caused by the expansion of a CAG repeat in the huntingtin (htt) gene. This triplet expansion encodes a polyglutamine stretch (polyQ) in the N-terminus of the high molecular weight (348-kDa) and ubiquitously expressed protein htt. Normal individuals have between 6 and 35
Ortega, Zaira, Lucas, José Javier
openaire   +4 more sources

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