Results 61 to 70 of about 44,176 (282)

Therapeutic Antisense Targeting of Huntingtin [PDF]

DNA and Cell Biology, 2020
Antisense oligonucleotides (ASOs) are a relatively new therapeutic entity that utilizes short chemically modified strands of DNA in targeted interactions with RNA to modulate the type or amount of resultant protein. This brief review summarizes the preclinical, translational, and early clinical development of an ASO designed to reduce the production of
Smith, AV, Tabrizi, SJ
openaire   +3 more sources

Ribosome Homeostasis Regulated by SETD2 Preserves Intestinal Epithelial Barrier

Advanced Science, EarlyView.
SETD2 ablation causes dysregulation and recruitment defects of ribosome biogenesis factors, resulting in translational disorders of barrier maintenance genes, thereby compromising the intestinal barrier. These findings unveil a previously unappreciated role of ribosome biogenesis and translational regulation in preserving the intestinal epithelial ...
Hanyu Rao, Aiting Wang, Yue Xu, Wenxin Feng, Chunxiao Ma, Ziyi Wang, Wei Zhang, Wenqiong Su, Xiuying Xiao, Wei‐Qiang Gao, Xianting Ding, Li Li   +11 more
wiley   +1 more source

Raft-like microdomains play a key role in mitochondrial impairment in lymphoid cells from patients with Huntington's disease

Journal of Lipid Research, 2012
Huntington's disease (HD) is a genetic neurodegenerative disease characterized by an exceedingly high number of contiguous glutamine residues in the translated protein, huntingtin (Htt).
Laura Ciarlo, Valeria Manganelli, Paola Matarrese, Tina Garofalo, Antonella Tinari, Lucrezia Gambardella, Matteo Marconi, Maria Grasso, Roberta Misasi, Maurizio Sorice, Walter Malorni   +10 more
doaj   +1 more source

Ubiquitin-modifying enzymes in Huntington’s disease

Frontiers in Molecular Biosciences, 2023
Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the N-terminus of the HTT gene. The CAG repeat expansion translates into a polyglutamine expansion in the mutant HTT (mHTT) protein, resulting in intracellular ...
Karen A. Sap, Karlijne W. Geijtenbeek, Sabine Schipper-Krom, Arzu Tugce Guler, Eric A. Reits   +4 more
doaj   +1 more source

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, Mary Heng, Peter Detloff, Phillip Wang, Roger Albin   +4 more
core   +1 more source

The phasor-FLIM fingerprints reveal shifts from OXPHOS to enhanced glycolysis in Huntington Disease. [PDF]

, 2016
Huntington disease (HD) is an autosomal neurodegenerative disorder caused by the expansion of Polyglutamine (polyQ) in exon 1 of the Huntingtin protein. Glutamine repeats below 36 are considered normal while repeats above 40 lead to HD.
Digman, Michelle A, Marsh, J Lawrence, Sameni, Sara, Syed, Adeela   +3 more
core   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

PIN1 Modulates Huntingtin Levels and Aggregate Accumulation: An In vitro Model

Frontiers in Cellular Neuroscience, 2017
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder characterized by a polyglutamine expansion within the N-terminal region of huntingtin protein (HTT).
Alisia Carnemolla, Silvia Michelazzi, Elena Agostoni   +2 more
doaj   +1 more source

nNOS(+) striatal neurons, a subpopulation spared in Huntington's Disease, possess functional NMDA receptors but fail to generate mitochondrial ROS in response to an excitotoxic challenge. [PDF]

, 2013
Huntington's disease (HD) is a neurodegenerative condition characterized by severe neuronal loss in the cortex and striatum that leads to motor and behavioral deficits.
Canzoniero, Lorella MT, Choi, Dennis W, Dugan, Laura L, Granzotto, Alberto, Sensi, Stefano L, Turetsky, Dorothy M   +5 more
core   +2 more sources

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source