Results 91 to 100 of about 22,723 (239)

Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis. [PDF]

, 2018
Huntington disease (HD) is a late-onset genetic neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide in the exon 1 of the gene encoding the polyglutamine (polyQ).
Digman, Michelle A, Malacrida, Leonel, Sameni, Sara, Tan, Zhiqun   +3 more
core   +2 more sources

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

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, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Sphingomyelin and GM1 Influence Huntingtin Binding to, Disruption of, and Aggregation on Lipid Membranes [PDF]

, 2018
Huntington disease (HD) is an inherited neurodegenerative disease caused by the expansion beyond a critical threshold of a polyglutamine (polyQ) tract near the N-terminus of the huntingtin (htt) protein. Expanded polyQ promotes the formation of a variety
Campbell, Warren A., Chaibva, Maxmore, Frey, Shelli L., Gao, Xiang, Jain, Pranav, Legleiter, Justin   +5 more
core   +4 more sources

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

Polyglutamine disease: from pathogenesis to therapy

South African Medical Journal, 2012
Polyglutamine diseases are inherited neurodegenerative conditions arising from expanded trinucleotide CAG repeats in the disease-causing gene, which are translated into polyglutamine tracts in the resultant protein. Although these diseases share a common type of mutation, emerging evidence suggests that pathogenesis is complex, involving disruption of ...
Watson, Lauren M, Scholefield, Janine, Greenberg, L Jacquie, Wood, Matthew J A   +3 more
openaire   +5 more sources

Examination of ataxin-3 (atx-3) aggregation by structural mass spectrometry techniques: A rationale for expedited aggregation upon polyglutamine (polyQ) expansion [PDF]

, 2015
Expansion of polyglutamine stretches leads to the formation of polyglutamine-containing neuronal aggregates and neuronal death in nine diseases for which there currently are no treatments or cures.
Alison E. Ashcroft, Almeida, Ashcroft, Bernstein, Beveridge, Beveridge, Bevivino, Bleiholder, Bruno Almeida, Bush, Charlotte A. Scarff, Chow, Chow, Costa, Cummings, de Chiara, Duennwald, Ellisdon, Ellisdon, England, Fujigasaki, Gales, Gerhard, Goto, Hilton, Ignatova, Invernizzi, Ivanova, Joana Fraga, Kettner, Lajoie, Masino, Masino, Masino, Matos, Menon, Nagai, Natalello, Nicastro, Nicastro, Orr, Paulson, Rockabrand, Ruotolo, Ruotolo, Sandra Macedo-Ribeiro, Sanfelice, Saunders, Saunders, Scarff, Sheena E. Radford, Smith, Spitzer, Testa, Thakur, Zoghbi   +55 more
core   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, EarlyView.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Targeting several CAG expansion diseases by a single antisense oligonucleotide. [PDF]

PLoS ONE, 2011
To date there are 9 known diseases caused by an expanded polyglutamine repeat, with the most prevalent being Huntington's disease. Huntington's disease is a progressive autosomal dominant neurodegenerative disorder for which currently no therapy is ...
Melvin M Evers, Barry A Pepers, Judith C T van Deutekom, Susan A M Mulders, Johan T den Dunnen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Willeke M C van Roon-Mom   +7 more
doaj   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

Impaired GAPDH‐induced mitophagy contributes to the pathology of Huntington's disease

EMBO Molecular Medicine, 2015
Mitochondrial dysfunction is implicated in multiple neurodegenerative diseases. In order to maintain a healthy population of functional mitochondria in cells, defective mitochondria must be properly eliminated by lysosomal machinery in a process referred
Sunhee Hwang, Marie‐Hélène Disatnik, Daria Mochly‐Rosen   +2 more
doaj   +1 more source