Results 81 to 90 of about 19,301 (228)

Fibrillogenesis of Huntingtin and Other Glutamine Containing Proteins [PDF]

, 2012
This chapter focuses on the aggregation of glutamine containing peptides and proteins with an emphasis on huntingtin protein, whose aggregation leads to the development of Huntington's disease. The kinetics that leads to the formation of amyloids, the structure of aggregates of various types and the morphological mechanical properties of amyloid ...
Yuri L, Lyubchenko, Alexey V, Krasnoslobodtsev, Sorin, Luca   +2 more
openaire   +2 more sources

Proteasome activator enhances survival of Huntington's disease neuronal model cells. [PDF]

PLoS ONE, 2007
In patients with Huntington's disease (HD), the proteolytic activity of the ubiquitin proteasome system (UPS) is reduced in the brain and other tissues. The pathological hallmark of HD is the intraneuronal nuclear protein aggregates of mutant huntingtin.
Hyemyung Seo, Kai-Christian Sonntag, Woori Kim, Elena Cattaneo, Ole Isacson   +4 more
doaj   +1 more source

Rapamycin reduces neuronal mutant huntingtin aggregation and ameliorates locomotor performance in Drosophila

Frontiers in Aging Neuroscience, 2023
Huntington’s disease (HD) is a neurodegenerative disease characterized by movement and cognitive dysfunction. HD is caused by a CAG expansion in exon 1 of the HTT gene that leads to a polyglutamine (PQ) repeat in the huntingtin protein, which aggregates ...
Jonathan R. Roth, Jonathan R. Roth, Ruan Carlos Macedo de Moraes, Brittney P. Xu, Savannah R. Crawley, Malghalara A. Khan, Girish C. Melkani   +6 more
doaj   +1 more source

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +1 more source

Mutant huntingtin gene-dose impacts on aggregate deposition, DARPP32 expression and neuroinflammation in HdhQ150 mice. [PDF]

PLoS ONE, 2013
Huntington's disease (HD) is an autosomal dominant, progressive and fatal neurological disorder caused by an expansion of CAG repeats in exon-1 of the huntingtin gene.
Douglas Young, Franziska Mayer, Nella Vidotto, Tatjana Schweizer, Ramon Berth, Dorothee Abramowski, Derya R Shimshek, P Herman van der Putten, Peter Schmid   +8 more
doaj   +1 more source

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background Huntington's disease (HD) is characterized by early, selective, progressive vulnerability of striatal medium spiny neurons (MSNs). Proenkephalin (PENK), a precursor of opioid peptides abundantly expressed in MSNs, is a promising biomarker of striatal integrity, but region‐specific associations and its potential for early‐stage ...
Mena Farag, Michael J. Murphy, Nicola Z. Hobbs, Michela Leocadi, Kate Fayer, Olivia Thackeray, Johan Gobom, Marc Ciosi, Amanda Heslegrave, Henrik Zetterberg, Douglas R. Langbehn, Darren G. Monckton, Edward J. Wild, Sarah J. Tabrizi, Rachael I. Scahill   +14 more
wiley   +1 more source

Renovating Neural Networks With Viral‐Mediated Gene Transfer From A Tissue Contacting Matrix Mimic

Small, EarlyView.
Fmoc‐DDIKVAV self‐assembling peptidemediated delivery of AAV‐BDNF significantly enhances neuroprotection in the striatum of a mouse model compared with AAV‐BDNF injection alone. This synergistic integration of biomaterial scaffolding and gene therapy holds substantial promise for slowing the progression of neurodegenerative diseases such as Huntington ...
Shiva Soltani Dehnavi, Negar Mahmoudi, Yi Wang, Samuel Cheeseman, Rita Ferreira, Ross D. Hannan, Leszek Lisowski, Vincent S. J. Craig, Niamh Moriarty, Clare L. Parish, Richard J. Williams, David R. Nisbet   +11 more
wiley   +1 more source

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

Brain Pathology, EarlyView.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +1 more source

Rhes, a Striatal Specific Protein, Mediates Mutant-Huntingtin Cytotoxicity [PDF]

Science, 2009
Rhes-olving Huntington's Disease? Huntington's disease (HD) is caused by a single dominant mutation of huntingtin (Htt), a protein that occurs in all tissues of the body and that is uniformly distributed throughout the brain.
Srinivasa, Subramaniam, Katherine M, Sixt, Roxanne, Barrow, Solomon H, Snyder   +3 more
openaire   +2 more sources

Maintenance of basal levels of autophagy in Huntington's disease mouse models displaying metabolic dysfunction. [PDF]

PLoS ONE, 2013
Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expanded polyglutamine repeat in the huntingtin protein. Neuropathology in the basal ganglia and in the cerebral cortex has been linked to the motor and cognitive symptoms ...
Barbara Baldo, Rana Soylu, Asa Petersén
doaj   +1 more source