Results 61 to 70 of about 419,485 (330)

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

FEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen, Zenon Toprakcioglu, Michele Vendruscolo   +2 more
wiley   +1 more source

Differentiated evolutionary rates in alternative exons and the implications for splicing regulation

BMC Evolutionary Biology, 2006
Background Alternatively spliced exons play an important role in the diversification of gene function in most metazoans and are highly regulated by conserved motifs in exons and introns.
Eyras Eduardo, Plass Mireya
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

Molecular Therapy - Nucleic Acids, 2014
Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
K. Greer, K. Greer, Steve D. Wilton, Steve D. Wilton, Sue Fletcher, Sue Fletcher, Kevin M. Flanigan, Hanns Lochmüller   +7 more
openaire   +4 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Splicing repression allows the gradual emergence of new Alu-exons in primate evolution

eLife, 2016
Alu elements are retrotransposons that frequently form new exons during primate evolution. Here, we assess the interplay of splicing repression by hnRNPC and nonsense-mediated mRNA decay (NMD) in the quality control and evolution of new Alu-exons.
Jan Attig, Igor Ruiz de los Mozos, Nejc Haberman, Zhen Wang, Warren Emmett, Kathi Zarnack, Julian König, Jernej Ule   +7 more
doaj   +1 more source

The identification of switch-like alternative splicing exons among multiple samples with RNA-Seq data. [PDF]

PLoS ONE, 2017
Alternative splicing is an ubiquitous phenomenon in most human genes and has important functions. The switch-like exon is the type of exon that has a high level of usage in some tissues, but has a low level of usage in the other tissues.
Zhiyi Qin, Xuegong Zhang
doaj   +1 more source

A novel panel of mouse models to evaluate the role of human pregnane X receptor and constitutive androstane receptor in drug response [PDF]

, 2008
The pregnane X receptor (PXR) and the constitutive androstane receptor (CAR) are closely related orphan nuclear hormone receptors that play a critical role as xenobiotic sensors in mammals.
Anja Rode, Baes, Bauer, Branko Zevnik, C. Roland Wolf, Dotzlaw, Forrester, Hustert, Jillian Ross, Kocarek, Lowry, Lukas, Meehan, Nico Scheer, Nicole Faust, Poland, Sandra Niehaves, Smith, Wolf, Wrighton   +19 more
core   +3 more sources

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Rodent-specific alternative exons are more frequent in rapidly evolving genes and in paralogs

BMC Evolutionary Biology, 2009
Background Alternative splicing is an important mechanism for generating functional and evolutionary diversity of proteins in eukaryotes. Here, we studied the frequency and functionality of recently gained, rodent-specific alternative exons.
Mironov Andrey A, Nurtdinov Ramil N, Gelfand Mikhail S   +2 more
doaj   +1 more source