نتایج جستجو برای: splicing modulation

تعداد نتایج: 176802  

Journal: :The Biochemical journal 2006
Cécile Robard Alex Daviau Marco Di Fruscio

Mutations in the Drosophila kep1 gene, encoding a single maxi KH (K homology) domain-containing RNA-binding protein, result in a reduction of fertility in part due to the disruption of the apoptotic programme during oogenesis. This disruption is concomitant with the appearance of an alternatively spliced mRNA isoform encoding the inactive caspase dredd. We generated a Kep1 antibody and have fou...

Journal: :Brain : a journal of neurology 2010
Matthew J A Wood Michael J Gait Haifang Yin

Splice-modulation therapy, whereby molecular manipulation of premessenger RNA splicing is engineered to yield genetic correction, is a promising novel therapy for genetic diseases of muscle and nerve-the prototypical example being Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common childhood genetic disease, affecting one in 3500 newborn boys, causing progressive muscle ...

2013
Silvia Vivarelli Silvia C. Lenzken Marc-David Ruepp Francesco Ranzini Andrea Maffioletti Reinaldo Alvarez Oliver Mühlemann Silvia M. L. Barabino

Paraquat (PQ) is a neurotoxic herbicide that induces superoxide formation. Although it is known that its toxic properties are linked to ROS production, the cellular response to PQ is still poorly understood. We reported previously that treatment with PQ induced genome-wide changes in pre-mRNA splicing. Here, we investigated the molecular mechanism underlying PQ-induced pre-mRNA splicing alterat...

Journal: :American journal of physiology. Cell physiology 2007
John D Lueck Codrin Lungu Ami Mankodi Robert J Osborne Stephen L Welle Robert T Dirksen Charles A Thornton

Transmembrane chloride ion conductance in skeletal muscle increases during early postnatal development. A transgenic mouse model of myotonic dystrophy type 1 (DM1) displays decreased sarcolemmal chloride conductance. Both effects result from modulation of chloride channel 1 (CLCN1) expression, but the respective contributions of transcriptional vs. posttranscriptional regulation are unknown. He...

Journal: :Human molecular genetics 2006
A Disset C F Bourgeois N Benmalek M Claustres J Stevenin Sylvie Tuffery-Giraud

A nonsense mutation c.4250T>A (p.Leu1417X) in the dystrophin gene of a patient with an intermediate phenotype of muscular dystrophy induces partial in-frame skipping of exon 31. On the basis of UV cross-linking assays and pull-down analysis, we present evidence that the skipping of this exon is because of the creation of an exonic splicing silencer, which acts as a highly specific binding site ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2011
Manuel Irimia Amanda Denuc Demián Burguera Ildiko Somorjai Jose M Martín-Durán Grigory Genikhovich Senda Jimenez-Delgado Ulrich Technau Scott W Roy Gemma Marfany Jordi Garcia-Fernàndez

Novel organismal structures in metazoans are often undergirded by complex gene regulatory networks; as such, understanding the emergence of new structures through evolution requires reconstructing the series of evolutionary steps leading to these underlying networks. Here, we reconstruct the step-by-step assembly of the vertebrate splicing network regulated by Nova, a splicing factor that modul...

Journal: :Oncology reports 2013
Andreas Eisenreich Andreas Zakrzewicz Kilian Huber Hannes Thierbach Wojciech Pepke Petra Goldin-Lang Heinz-Peter Schultheiss Axel Pries Ursula Rauch

Alternative splicing is a key regulatory mechanism for cellular metabolism controlling cell proliferation and angiogenesis, both of which are crucial processes for tumorigenesis under hypoxia. Human cells express two tissue factor (TF) isoforms, alternatively spliced TF (asTF) and 'full length' TF (flTF). flTF is the major source of thrombogenicity whereas, the function of soluble asTF, particu...

Journal: :European journal of endocrinology 2016
Jonàs Juan-Mateu Olatz Villate Décio L Eizirik

Type 1 diabetes (T1D) is a chronic autoimmune disease in which pancreatic β cells are killed by infiltrating immune cells and by cytokines released by these cells. This takes place in the context of a dysregulated dialogue between invading immune cells and target β cells, but the intracellular signals that decide β cell fate remain to be clarified. Alternative splicing (AS) is a complex post-tr...

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