The mRNA expression of SETD2 in human breast cancer: Correlation with clinico-athological parameters [PDF]
, 2009 BACKGROUND: SET domain containing protein 2 (SETD2) is a histone methyltransferase that is involved in transcriptional elongation. There is evidence that SETD2 interacts with p53 and selectively regulates its downstream genes.
AP Cuthbert +22 more
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In vivo evidence for NMDA receptor mediated excitotoxicity in a murine genetic model of Huntington Disease [PDF]
, 2008 N-methyl-D-aspartate receptor (NMDAR) mediated excitotoxicity is implicated as a proximate cause of neurodegeneration in Huntington Disease (HD). However, this hypothesis has not been tested rigorously in vivo. NMDAR NR2B-subunits are the predominant NR2
Joe Tsien +4 more
core +1 more source
Epigenetics and triplet-repeat neurological diseases [PDF]
, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core +2 more sources
Aggregation of scaffolding protein DISC1 dysregulates phosphodiesterase 4 in Huntington’s disease [PDF]
, 2017 Huntington’s disease (HD) is a polyglutamine (polyQ) disease caused by aberrant expansion of the polyQ tract in Huntingtin (HTT). While motor impairment mediated by polyQ-expanded HTT has been intensively studied, molecular mechanisms for nonmotor ...
Akira Sawa +31 more
core +2 more sources
Huntington's disease is a multi-system disorder. [PDF]
, 2015 Huntingtons disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia.
Mielcarek, M
core +1 more source
Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington's Disease Neural Stem Cells. [PDF]
, 2015 We utilized induced pluripotent stem cells (iPSCs) derived from Huntington's disease (HD) patients as a human model of HD and determined that the disease phenotypes only manifest in the differentiated neural stem cell (NSC) stage, not in iPSCs.
An +49 more
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Elucidating the Influence of Lipid Composition on Bilayer Perturbations Induced by the N-terminal Region of the Huntingtin Protein. [PDF]
Biophysica, 2023 Gamage YI, Pan J.
europepmc +1 more source
Salivary Huntingtin protein is uniquely associated with clinical features of Huntington's disease. [PDF]
Sci Rep, 2023 Parkin GM +7 more
europepmc +1 more source
Multiple discrete soluble aggregates influence polyglutamine toxicity in a Huntington\u27s disease model system [PDF]
, 2016 Huntington’s disease (HD) results from expansions of polyglutamine stretches (polyQ) in the huntingtin protein (Htt) that promote protein aggregation, neurodegeneration, and death.
Denis, Clyde L., Wang, Xin, Xi, Wen
core +1 more source
Regulation of Blos1 by IRE1 prevents the accumulation of Huntingtin protein aggregates. [PDF]
Mol Biol Cell, 2022 Bae D +5 more
europepmc +1 more source