Results 41 to 50 of about 11,319 (157)

Polyglutamine Disease: Acetyltransferases Awry [PDF]

Current Biology, 2002
Recent evidence indicates that inhibition of histone acetyltransferases may be a primary cause of cellular pathogenesis in polyglutamine diseases such as Huntington disease; the results raise the possibility that pharmacologic manipulation of protein acetylation levels could be of therapeutic benefit.
openaire   +2 more sources

Fighting polyglutamine disease by wrestling with SUMO [PDF]

Journal of Clinical Investigation, 2015
Spinobulbar muscular atrophy (SBMA) is an X-linked disease characterized by degeneration of motor neurons, muscle atrophy, and progressive weakness. It is caused by a polyglutamine (polyQ) expansion in the androgen receptor (AR), a transcription factor that is activated upon hormone binding.
Craig, Tim J, Henley, Jeremy M
openaire   +3 more sources

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

The Expanding Clinical Universe of Polyglutamine Disease [PDF]

The Neuroscientist, 2019
Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of unstable polyQ repeats in their associated disease proteins. To date, the pathogenesis of each disease remains poorly understood, and there are no effective treatments.
Shanshan, Huang, Suiqiang, Zhu, Xiao-Jiang, Li, Shihua, Li   +3 more
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Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Current understanding on the pathogenesis of polyglutamine diseases [PDF]

Neuroscience Bulletin, 2010
Polyglutamine (polyQ) diseases are a family of neurodegenerative disorders including Huntington's disease, spinobulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and several spinocerebellar ataxias. polyQ diseases are caused by abnormal expansion of CAG repeats in certain genes.
Xiao-Hui, He, Fang, Lin, Zheng-Hong, Qin
openaire   +2 more sources

Polyglutamine expansion affects huntingtin conformation in multiple Huntington’s disease models

Scientific Reports, 2017
Conformational changes in disease-associated or mutant proteins represent a key pathological aspect of Huntington’s disease (HD) and other protein misfolding diseases.
Manuel Daldin, Valentina Fodale, Cristina Cariulo, Lucia Azzollini, Margherita Verani, Paola Martufi, Maria Carolina Spiezia, Sean M. Deguire, Marta Cherubini, Douglas Macdonald, Andreas Weiss, Alberto Bresciani, Jean-Paul Gerard Vonsattel, Lara Petricca, J. Lawrence Marsh, Silvia Gines, Iolanda Santimone, Massimo Marano, Hilal A. Lashuel, Ferdinando Squitieri, Andrea Caricasole   +20 more
doaj   +1 more source

Effect of osmolytes on the conformation and aggregation of some amyloid peptides: CD spectroscopic data

Data in Brief, 2016
Protein misfolding and aggregation are responsible for a large number of diseases called protein conformational diseases or disorders that include Alzheimer׳s disease, Huntington׳s diseases, Prion related encephalopathies and type-II diabetes (http://dx ...
Mohammed Inayathullah, Jayakumar Rajadas
doaj   +1 more source

Polyglutamine toxicity is controlled by prion composition and gene dosage in yeast. [PDF]

PLoS Genetics, 2012
Polyglutamine expansion causes diseases in humans and other mammals. One example is Huntington's disease. Fragments of human huntingtin protein having an expanded polyglutamine stretch form aggregates and cause cytotoxicity in yeast cells bearing ...
He Gong, Nina V Romanova, Kim D Allen, Pavithra Chandramowlishwaran, Kavita Gokhale, Gary P Newnam, Piotr Mieczkowski, Michael Y Sherman, Yury O Chernoff   +8 more
doaj   +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, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source