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Raver2 mice

Anna Bartoletti-Stella, Laura Gasparini, Caterina Giacomini, Patrizia Corrado, Rossana Terlizzi, Elisa Giorgio, Pamela Magini, Marco Seri, Agostino Baruzzi, Piero Parchi, Alfredo Brusco, Pietro Cortelli, Sabina Capellari
Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by autonomic dysfunction, followed by cerebellar and pyramidal features. ADLD is caused by duplication of the lamin B1 gene (LMNB1), which leads to its increased expression. The molecular pathways involved in the disease are still poorly understood. Hence, we analyzed global gene expression in fibroblasts and whole blood of LMNB1 duplication carriers and used Gene Set Enrichment Analysis to explore their gene signatures...
May 15, 2015: Human Molecular Genetics
Maria Grazia Romanelli, Pamela Lorenzi, Erica Diani, Agnese Filippello, Francesca Avesani, Carlo Morandi
Raver2 is a putative modulator of the activity of the polypyrimidine-tract binding protein (PTB), one of the most intensively studied splicing repressors. Little is known about Raver2 expression, and all current data is from mice where it shows tissue specificity. In the present study, by comparing Raver2 transcript expression in human and mouse tissues, we found that human Raver2 is ubiquitously expressed in adult tissues. In order to investigate human Raver2 transcription regulation, we identified and characterized a putative promoter region in a 1000bp region upstream of the transcription starting site of the gene...
February 10, 2012: Gene
Berenike Henneberg, Sascha Swiniarski, Sabine Becke, Susanne Illenberger
Raver2 was originally identified as a member of the hnRNP family through database searches revealing three N-terminal RNA recognition motifs (RRMs) bearing highest sequence identity in the RNP sequences to the related hnRNP Raver1. Outside the RRM region, both Raver proteins are quite divergent in sequence except for conserved peptide motifs of the [S/G][I/L]LGxxP consensus sequence. The latter have been implicated in Raver1 binding to the polypyrimidine tract-binding protein (PTB) a regulatory splicing repressor and common ligand of both Raver proteins...
April 1, 2010: Experimental Cell Research
Berenike Kleinhenz, Manuela Fabienke, Sascha Swiniarski, Nina Wittenmayer, Joachim Kirsch, Brigitte M Jockusch, Hans Henning Arnold, Susanne Illenberger
Raver2 was identified as a novel member of the hnRNP family based on sequence homology within three RNA recognition motifs and its general domain organization reminiscent of the previously described raver1 protein. Like raver1, raver2 contains two putative nuclear localization signals and a potential nuclear export sequence, and also displays nucleo-cytoplasmic shuttling in a heterokaryon assay. In glia cells and neurons, raver2 localizes to the nucleus. Moreover, the protein interacts with polypyrimidine tract binding protein (PTB) suggesting that it may participate in PTB-mediated nuclear functions...
August 15, 2005: FEBS Letters
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