Zobrazeno 1 - 10
of 568
pro vyhledávání: '"R6/2"'
Publikováno v:
Cells, Vol 13, Iss 6, p 469 (2024)
Huntington’s disease (HD), a congenital neurodegenerative disorder, extends its pathological damages beyond the nervous system. The systematic manifestation of HD has been extensively described in numerous studies, including dysfunction in peripher
Externí odkaz:
https://doaj.org/article/68c0c184414a4ba697ff84266ce72fe3
Publikováno v:
FEBS Open Bio, Vol 11, Iss 10, Pp 2807-2818 (2021)
Huntington’s disease (HD) is a progressive, neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. To investigate the metabolic alterations that occur in HD, here we examined plasma and whole‐brain metabolomic prof
Externí odkaz:
https://doaj.org/article/10714fbc89fc4231bb2aa0108330504c
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Huntington’s disease (HD) is a debilitating hereditary motor disorder caused by an expansion of the CAG triplet repeat in the Huntingtin gene. HD causes neurodegeneration particularly in the basal ganglia and neocortex. In the cortex, glutamatergic
Externí odkaz:
https://doaj.org/article/97dea2aa3b3642fca57860357caa61a8
Autor:
Roberto Speziale, Camilla Montesano, Giulia Di Pietro, Daniel Oscar Cicero, Vincenzo Summa, Edith Monteagudo, Laura Orsatti
Publikováno v:
Metabolites, Vol 13, Iss 8, p 961 (2023)
Huntington’s disease (HD) is caused by the expansion of a polyglutamine (polyQ)-encoding tract in exon 1 of the huntingtin gene to greater than 35 CAG repeats. It typically has a disease course lasting 15–20 years, and there are currently no dise
Externí odkaz:
https://doaj.org/article/7a92756f06cd4e50be6195e730b03141
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Abstract Huntington’s disease (HD) is an autosomal dominant trinucleotide repeat disorder characterized by choreiform movements, dystonia and striatal neuronal loss. Amongst multiple cellular processes, abnormal neurotransmitter signalling and decr
Externí odkaz:
https://doaj.org/article/179f6ff7cfc84881a12e199ce94b16b0
Publikováno v:
Biochemistry and Biophysics Reports, Vol 28, Iss , Pp 101182- (2021)
Huntington's disease (HD) causes neurological impairments, as well as muscle dysfunction, including smaller neuromuscular junctions (NMJs). This study assessed the expression levels of the subunits of the nicotinic acetylcholine receptor (nAChR) in m
Externí odkaz:
https://doaj.org/article/496216020d6f4e1f96f433d850e60e4e
Akademický článek
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Akademický článek
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Autor:
Libo Yu-Taeger, Arianna Novati, Jonasz Jeremiasz Weber, Elisabeth Singer-Mikosch, Ann-Sophie Pabst, Fubo Cheng, Carsten Saft, Jennifer Koenig, Gisa Ellrichmann, Taneli Heikkinen, Mahmoud A. Pouladi, Olaf Riess, Huu Phuc Nguyen
Publikováno v:
Cells, Vol 11, Iss 23, p 3779 (2022)
Body weight (BW) loss and reduced body mass index (BMI) are the most common peripheral alterations in Huntington disease (HD) and have been found in HD mutation carriers and HD animal models before the manifestation of neurological symptoms. This sug
Externí odkaz:
https://doaj.org/article/182d9543377f43cc8144fbbfc702c74e
Autor:
Ido Rippin, Katherina Bonder, Shirley Joseph, Ammar Sarsor, Lilach Vaks, Hagit Eldar-Finkelman
Publikováno v:
Neurobiology of Disease, Vol 154, Iss , Pp 105336- (2021)
In Huntington's disease (HD), the mutant huntingtin (mHtt) accumulates as toxic aggregates in the striatum tissue, with deleterious effects on motor-coordination and cognitive functions. Reducing the levels of mHtt is therefore a promising therapeuti
Externí odkaz:
https://doaj.org/article/046c34e9ec654364a9ccf8bd0fb54142