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Muts{beta} generates both expansions and contractions in a mouse model of the Fragile X-associated disorders

15.12.2015 | Xiao-Nan Zhao; Daman Kumari; Shikha Gupta; Di Wu; Maya Evanitsky; Wei Yang; Karen Usdin, Human Molecular Genetics, 2015

Fragile X-associated disorders are Repeat Expansion Diseases that result from expansion of a CGG/CCG-repeat in the FMR1 gene. Contractions of the repeat tract also occur, albeit at lower frequency. However, these contractions can potentially modulate disease symptoms or generate an allele with ...


Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease

01.12.2015 | Ivana Trapani; Elisabetta Toriello; Sonia de Simone; Pasqualina Colella; Carolina Iodice; Elena V. Polishchuk; Andre ..., Human Molecular Genetics, 2015

Stargardt disease (STGD1) due to mutations in the large ABCA4 gene is the most common inherited macular degeneration in humans. We have shown that dual adeno-associated viral (AAV) vectors effectively transfer ABCA4 to the retina of Abca4–/– mice. However, they express both lower levels of ...


The regulation of ER export and Golgi retention of ST3Gal5 (GM3/GM4 synthase) and B4GalNAcT1 (GM2/GD2/GA2 synthase) by arginine/lysine-based motif adjacent to the transmembrane domain

01.12.2015 | Satoshi Uemura; Fumi Shishido; Madoka Kashimura; Jin-ichi Inokuchi, Glycobiology , 2015

In the Golgi maturation model, the Golgi cisternae dynamically mature along a secretory pathway. In this dynamic process, glycosyltransferases are transported from the endoplasmic reticulum (ER) to the Golgi apparatus where they remain and function. The precise mechanism behind this maturation ...


Graph-Based Processing of Macromolecular Information

24.11.2015 | R. Munteanu, Cristian; Aguiar-Pulido, Vanessa; Freire, Ana; Martinez-Romero, Marcos; Porto-Pazos, Ana B.; Pereira, J ..., Current Bioinformatics, 2015

Abstract: The complex information encoded into the element connectivity of a system gives rise to the possibility of graphical processing of divisible systems by using the Graph theory. An application in this sense is the quantitative characterization of molecule topologies of drugs, ...


Cholesterol loading in vivo and in vitro alters extracellular matrix proteins production in smooth muscle cells

21.11.2015 | Rogelio Palomino‐Morales, Sonia Perales, Carolina Torres, Ana Linares, Maria Jose Alejandre, European Journal of Lipid Science and Technology, 2015

Abstract This study supports the SMC dedifferentiation in vitro model and increases our fundamental knowledge of plaque formation and remodeling. With this purpose, we isolated smooth muscle cells form aortic arch of chicks either fed under control or high cholesterol diets. From the former ...


Gelsolin-Like Domain 3 Plays Vital Roles in Regulating the Activities of the Lily Villin/Gelsolin/Fragmin Superfamily

20.11.2015 | Dong Qian et al., PLoS ONE, 2015

by Dong Qian, Qiong Nan, Yueming Yang, Hui Li, Yuelong Zhou, Jingen Zhu, Qifeng Bai, Pan Zhang, Lizhe An, Yun Xiang The villin/gelsolin/fragmin superfamily is a major group of Ca2+-dependent actin-binding proteins (ABPs) involved in various cellular processes. Members of this superfamily ...


The Chromatin Regulator CHD8 Is a Context-Dependent Mediator of Cell Survival in Murine Hematopoietic Malignancies

20.11.2015 | Jennifer R. Shingleton et al., PLoS ONE, 2015

by Jennifer R. Shingleton, Michael T. Hemann Aberrant chromatin regulation is a frequent driver of leukemogenesis. Mutations in chromatin regulators often result in more stem-like cells that seed a bulk leukemic population. Inhibitors targeting these proteins represent an emerging class of ...


Effect of Sodium Chloride on the Properties of Ready‐to‐Eat Pressure‐Induced Gel‐Type Chicken Meat Products

19.11.2015 | Tianyue Guo, Siwen Xue, Yufeng Zou, Minyi Han, Xinglian Xu, Guanghong Zhou, Journal of Food Process Engineering, 2015

Abstract Pressurized meat foods are increasingly being accepted by consumers nowadays. Unlike in thermal processing, the salt content required for pressure‐induced gelation of muscle proteins is not clear. Sodium chloride levels of 0.6, 0.8, 1.0, 1.2 and 1.4% were used to prepare ready‐to‐eat ...


LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta‐induced protein (TGFBIp)

17.11.2015 | Ebbe Toftgaard Poulsen, Nadia Sukusu Nielsen, Morten M. Jensen, Esben Nielsen, Jesper Hjortdal, Eung Kweon Kim, Jan ..., PROTEOMICS, 2015

More than 60 mutations in transforming growth factor beta‐induced protein (TGFBIp) have been reported in humans causing a variety of phenotypic protein aggregates in the cornea, commonly termed corneal dystrophies. One mutation, generating an arginine to histidine amino acid substitution at ...


Therapeutic Potential of Targeting PAK Signaling

17.11.2015 | Senapedis, William; Crochiere, Marsha; Baloglu, Erkan; Landesman, Yosef, Anti-Cancer Agents in Medicinal Chemistry , 2015

Abstract: The therapeutic potential of targeting p21-Activated Kinases (PAK1 – 6) for the treatment of cancer has recently gained traction in the biotech industry. Many pharmaceutically-viable ATP competitive inhibitors have been through different stages of pre-clinical development with only a ...


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