Results 61 to 70 of about 20,303 (218)
ALTERED EXPRESSION AND FUNCTIONALITY OF A2A ADENOSINE RECEPTORS IN HUNTINGTON’S DISEASE AND OTHER POLYGLUTAMINE DISORDERS [PDF]
, 2009 Several studies have suggested the possible involvement of A2A adenosine receptors in the pathogenesis of neuronal disorders, including Huntington’s disease.
Vincenzi, Fabrizio
core
Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration [PDF]
Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with abnormally expanded polyglutamine tract.
Janet, Sasso +2 more
core +1 more source
Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells
Movement Disorders, EarlyView.Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia +4 more
wiley +1 more source
eLife, 2021 Muscle function relies on the precise architecture of dynamic contractile elements, which must be fine-tuned to maintain motility throughout life. Muscle is also plastic, and remodeled in response to stress, growth, neural and metabolic inputs.
Isabelle Schiffer +10 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux +11 more
wiley +1 more source
Model of polyglutamine induced toxicity.
, 2013 Activation p38MAPK signaling is counteracted by PKCι-mediated ERK activation in expanded polyglutamine expressing cells. The pharmacological blockade of ERK with U0126 or by PKCι depletion sensitizes cells to polyglutamine-induced death through a ...
Matthew Y. Tang (241993) +4 more
core +1 more source
Andrology, EarlyView.ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani +8 more
wiley +1 more source
Innovative approaches to monitor mutant huntingtin and to facilitate its degradation in Huntington's disease models [PDF]
, 2011 Huntington’s disease (HD) is a dominant genetic neurodegenerative disease caused by a mutation in the exon 1 of the huntingtin gene. The clinical symptoms, such as motor disturbances (chorea), cognitive decline and psychiatric impairments are usually ...
Baldo, Barbara
core +1 more source
Molecules, 2014 Polyglutamine (polyQ) aggregation plays a pivotal role in the pathological process of Huntington’s disease and other polyQ disorders. Therefore, strategies aiming at restoring dysfunction and reducing stresses mediated by polyQ toxicity are of ...
Lingyun Xiao +9 more
doaj +1 more source
Hunting for the cause: Evidence for prion-like mechanisms in Huntington’s disease
Frontiers in Neuroscience, 2022 The hypothesis that pathogenic protein aggregates associated with neurodegenerative diseases spread from cell-to-cell in the brain in a manner akin to infectious prions has gained substantial momentum due to an explosion of research in the past 10–15 ...
Kirby M. Donnelly +7 more
doaj +1 more source