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Sialidases as regulators of bioengineered cellular surfaces

01.07.2015 | Cristina Y Zamora; Matthew J Ryan; Marc d'Alarcao; Krishna Kumar, Glycobiology , 2015

Human sialidases (NEUs) catalyze the removal of N-acetyl neuraminic acids from the glycome of the cell and regulate a diverse repertoire of nominal cellular functions, such as cell signaling and adhesion. A greater understanding of their substrate permissivity is of interest in order to discern ...


Heparosan-glucuronate 5-epimerase: Molecular cloning and characterization of a novel enzyme

01.07.2015 | Hideo Mochizuki; Kiwamu Yamagishi; Kiyoshi Suzuki; Yeong Shik Kim; Koji Kimata, Glycobiology , 2015

Iduronic acid (IdoA) is a critical component of heparan sulfate in its interaction with functional proteins. Heparosan-N-sulfate-glucuronate 5-epimerase (HNSG-5epi) converts d-glucuronic acid (GlcA) residues in N-sulfated heparosan (NS-heparosan), as an intermediate in heparan sulfate ...


Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane

01.07.2015 | Takako Yoshida-Moriguchi; Kevin P Campbell, Glycobiology , 2015

Associations between cells and the basement membrane are critical for a variety of biological events including cell proliferation, cell migration, cell differentiation and the maintenance of tissue integrity. Dystroglycan is a highly glycosylated basement membrane receptor, and is involved in ...


Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

01.07.2015 | Vinod Sundaramoorthy; Adam K. Walker; Vanessa Tan; Jennifer A. Fifita; Emily P. Mccann; Kelly L. Williams; Ian P. Bl ..., Human Molecular Genetics, 2015

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder primarily affecting motor neurons. Mutations in optineurin cause a small proportion of familial ALS cases, and wild-type (WT) optineurin is misfolded and forms inclusions in sporadic ALS patient motor neurons. However, it ...


Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

01.07.2015 | David Kavanagh; Yi Yu; Elizabeth C. Schramm; Michael Triebwasser; Erin K. Wagner; Soumya Raychaudhuri; Mark J. Daly; ..., Human Molecular Genetics, 2015

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by ...


SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

01.07.2015 | Sara E. Gombash; Christopher J. Cowley; Julie A. Fitzgerald; Chitra C. Iyer; David Fried; Vicki L. McGovern; Kent C. ..., Human Molecular Genetics, 2015

The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy (SMA) notes that patients suffer from gastroesophageal reflux, constipation and delayed gastric emptying. We used two mouse models of SMA to determine whether functional GI complications are a direct consequence of or ...


The Ll.LtrB intron from Lactococcus lactis excises as circles in vivo: insights into the group II intron circularization pathway [ARTICLES]

01.07.2015 | Caroline Monat; Cecilia Quiroga; Felix Laroche-Johnston; Benoit Cousineau, RNA, 2015

Group II introns are large ribozymes that require the assistance of intron-encoded or free-standing maturases to splice from their pre-mRNAs in vivo. They mainly splice through the classical branching pathway, being released as RNA lariats. However, group II introns can also splice through ...


Contribution of two conserved histidines to the dual activity of archaeal RNA guide-dependent and -independent pseudouridine synthase Cbf5 [REPORTS]

01.07.2015 | Anne-Sophie Tillault; Jean-Baptiste Fourmann; Christine Loegler; Hans-Joachim Wieden; Ute Kothe; Bruno Charpentier, RNA, 2015

In all organisms, several distinct stand-alone pseudouridine synthase (PUS) family enzymes are expressed to isomerize uridine into pseudouridine () by specific recognition of RNAs. In addition, s are generated in Archaea and Eukaryotes by PUS enzymes which are organized as ribonucleoprotein ...


Multispecies Analysis of Expression Pattern Diversification in the Recently Expanded Insect Ly6 Gene Family

01.07.2015 | Kohtaro Tanaka; Yoan Diekmann; Alexis Hazbun; Assia Hijazi; Barbara Vreede; Fernando Roch; Élio Sucena, Molecular Biology and Evolution, 2015

Gene families often consist of members with diverse expression domains reflecting their functions in a wide variety of tissues. However, how the expression of individual members, and thus their tissue-specific functions, diversified during the course of gene family expansion is not well ...


EnD-Seq and AppEnD: sequencing 3' ends to identify nontemplated tails and degradation intermediates [METHODS]

01.07.2015 | Joshua D. Welch; Michael K. Slevin; Deirdre C. Tatomer; Robert J. Duronio; Jan F. Prins; William F. Marzluff, RNA, 2015

Existing methods for detecting RNA intermediates resulting from exonuclease degradation are low-throughput and laborious. In addition, mapping the 3' ends of RNA molecules to the genome after high-throughput sequencing is challenging, particularly if the 3' ends contain post-transcriptional ...


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