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Mosaic structural variation in children with developmental disorders

15.05.2015 | Daniel A. King; Wendy D. Jones; Yanick J. Crow; Anna F. Dominiczak; Nicola A. Foster; Tom R. Gaunt; Jade Harris; Ste ..., Human Molecular Genetics, 2015

Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2–1.0% of children ascertained for ...


Impact of sulfation pattern on the conformation and dynamics of sulfated fucan oligosaccharides as revealed by NMR and MD

01.05.2015 | Ismael NL Queiroz; Xiaocong Wang; John N Glushka; Gustavo RC Santos; Ana P Valente; James H Prestegard; Robert J Woo ..., Glycobiology , 2015

Sulfated fucans from sea urchin egg jelly express well-defined chemical structures that vary with species. This species specificity regulates the sperm acrosome reaction, a critical step to assure intra-specific fertilization. In addition, these polysaccharides are involved in other biological ...


SRD: a Staphylococcus regulatory RNA database [ARTICLES]

01.05.2015 | Mohamed Sassi; Yoann Augagneur; Tony Mauro; Lorraine Ivain; Svetlana Chabelskaya; Marc Hallier; Olivier Sallou; Bric ..., RNA, 2015

An overflow of regulatory RNAs (sRNAs) was identified in a wide range of bacteria. We designed and implemented a new resource for the hundreds of sRNAs identified in Staphylococci, with primary focus on the human pathogen Staphylococcus aureus. The "Staphylococcal Regulatory RNA Database" (SRD, ...


Intrahippocampal glutamine administration inhibits mTORC1 signaling and impairs long-term memory [RESEARCH]

01.05.2015 | Natalia S. Rozas; John B. Redell; Juan D. Pita-Almenar; James Mckenna III; Anthony N. Moore; Michael J. Gambello; Pr ..., Learning & Memory, 2015

The mechanistic Target of Rapamycin Complex 1 (mTORC1), a key regulator of protein synthesis and cellular growth, is also required for long-term memory formation. Stimulation of mTORC1 signaling is known to be dependent on the availability of energy and growth factors, as well as the presence of ...


Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

01.05.2015 | Meagan R. Pitcher; José A. Herrera; Shelly A. Buffington; Mikhail Y. Kochukov; Jonathan K. Merritt; Amanda R. Fisher ..., Human Molecular Genetics, 2015

Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome ...


Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease

01.05.2015 | Jing Jin; Qi Peng; Zhipeng Hou; Mali Jiang; Xin Wang; Abraham J. Langseth; Michael Tao; Peter B. Barker; Susumu Mori ..., Human Molecular Genetics, 2015

White matter abnormalities have been reported in premanifest Huntington's disease (HD) subjects before overt striatal neuronal loss, but whether the white matter changes represent a necessary step towards further pathology and the underlying mechanism of these changes remains unknown. Here, we ...


ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1

01.05.2015 | Kathleen M. Gilpin; Lydia Chang; Mervyn J. Monteiro, Human Molecular Genetics, 2015

Amyotrophic lateral sclerosis (ALS)-linked mutations in UBQLN2 and some members of the heterogeneous nuclear ribonucleoproteins (hnRNPs) family cause ALS. Most mutations in UBQLN2 are missense mutations that occur in and around a PXX repeat motif located in the central domain of the encoded ...


miRBoost: boosting support vector machines for microRNA precursor classification [BIOINFORMATICS]

01.05.2015 | Van Du T. Tran; Sebastien Tempel; Benjamin Zerath; Farida Zehraoui; Fariza Tahi, RNA, 2015

Identification of microRNAs (miRNAs) is an important step toward understanding post-transcriptional gene regulation and miRNA-related pathology. Difficulties in identifying miRNAs through experimental techniques combined with the huge amount of data from new sequencing technologies have made in ...


Origin and Evolution of Water Oxidation before the Last Common Ancestor of the Cyanobacteria

01.05.2015 | Tanai Cardona; James W. Murray; A. William Rutherford, Molecular Biology and Evolution, 2015

Photosystem II, the water oxidizing enzyme, altered the course of evolution by filling the atmosphere with oxygen. Here, we reconstruct the origin and evolution of water oxidation at an unprecedented level of detail by studying the phylogeny of all D1 subunits, the main protein coordinating the ...


Phosphorylation of the cell division protein GpsB regulates PrkC kinase activity through a negative feedback loop in Bacillus subtilis

25.04.2015 | Frédérique Pompeo, Elodie Foulquier, Bastien Serrano, Christophe Grangeasse, Anne Galinier, Molecular Microbiology, 2015

Summary Although many membrane Ser/Thr‐kinases with PASTA motifs have been shown to control bacterial cell division and morphogenesis, inactivation of the Ser/Thr‐kinase PrkC does not impact Bacillus subtilis cell division. In this study, we show that PrkC localizes at the division septum. In ...


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