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19.812 Aktuelle Fachpublikationen zum Thema Addition

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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 ...


Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3{Delta}ex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

15.12.2015 | Silène T. Wavre-Shapton; Alessandra A. Calvi; Mark Turmaine; Miguel C. Seabra; Daniel F. Cutler; Clare E. Futter; Ha ..., Human Molecular Genetics, 2015

Retinal degeneration and visual impairment are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to blindness. We investigated retinal degeneration in Cln3ex1-6 null mice, revealing classic ‘fingerprint’ lysosomal storage in ...


Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

01.12.2015 | Aline Dubos; Anna Castells-Nobau; Hamid Meziane; Merel A.W. Oortveld; Xander Houbaert; Giovanni Iacono; Christelle M ..., Human Molecular Genetics, 2015

ATP6AP2, an essential accessory component of the vacuolar H+ ATPase (V-ATPase), has been associated with intellectual disability (ID) and Parkinsonism. ATP6AP2 has been implicated in several signalling pathways; however, little is known regarding its role in the nervous system. To decipher its ...


Surface expression patterns of defined glycan antigens change during Schistosoma mansoni cercarial transformation and development of schistosomula

01.12.2015 | Cornelis H Smit; Arne Homann; Vincent P van Hensbergen; Gabriele Schramm; Helmut Haas; Angela van Diepen; Cornelis H ..., Glycobiology , 2015

During the complex lifecycle of Schistosoma mansoni, a large variety of glycans is expressed. To many of these glycans, antibodies are induced by the infected host and some might be targets for vaccines or diagnostic tests. Spatial changes in glycan expression during schistosome development are ...


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 ...


Similarity of Crocodilian and Avian Lungs Indicates Unidirectional Flow Is Ancestral for Archosaurs

01.12.2015 | C. G. Farmer, Integrative and Comparative Biology, 2015

Patterns of airflow and pulmonary anatomy were studied in the American alligator (Alligator mississippiensis), the black caiman (Melanosuchus niger), the spectacled caiman (Caiman crocodilus), the dwarf crocodile (Osteolaemus tetraspis), the saltwater crocodile (Crocodylus porosus), the Nile ...


Transcriptome-wide investigation of circular RNAs in rice [ARTICLE]

01.12.2015 | Tingting Lu; Lingling Cui; Yan Zhou; Chuanrang Zhu; Danlin Fan; Hao Gong; Qiang Zhao; Congcong Zhou; Yan Zhao; Danfe ..., RNA, 2015

Various stable circular RNAs (circRNAs) are newly identified to be the abundance of noncoding RNAs in Archaea, Caenorhabditis elegans, mice, and humans through high-throughput deep sequencing coupled with analysis of massive transcriptional data. CircRNAs play important roles in miRNA function ...


Molecular Evidence for Convergence and Parallelism in Evolution of Complex Brains of Cephalopod Molluscs: Insights from Visual Systems

01.12.2015 | M. A. Yoshida; A. Ogura; K. Ikeo; S. Shigeno; T. Moritaki; G. C. Winters; A. B. Kohn; L. L. Moroz, Integrative and Comparative Biology, 2015

Coleoid cephalopods show remarkable evolutionary convergence with vertebrates in their neural organization, including (1) eyes and visual system with optic lobes, (2) specialized parts of the brain controlling learning and memory, such as vertical lobes, and (3) unique vasculature supporting such ...


MEPSA: minimum energy pathway analysis for energy landscapes

01.12.2015 | Iñigo Marcos-Alcalde; Javier Setoain; Jesús I. Mendieta-Moreno; Jesús Mendieta; Paulino Gómez-Puertas, Bioinformatics, 2015

Summary: From conformational studies to atomistic descriptions of enzymatic reactions, potential and free energy landscapes can be used to describe biomolecular systems in detail. However, extracting the relevant data of complex 3D energy surfaces can sometimes be laborious. In this article, we ...


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