Results 41 to 50 of about 2,908,134 (284)

A case report of a patient with mucopolysaccharidosis type II

Revista Médica del Hospital General de México, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

Structural and biochemical analysis of a B12 superbinder

FEBS Letters, EarlyView.
BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices, Jacob J. Whittaker, Dirk J. Slotboom, Albert Guskov   +3 more
wiley   +1 more source

IDS Postgraduate Prospectus 2019

, 2019
Postgraduate studies have been central to IDS since its foundation in 1966 as the UK’s specialist institution for teaching and research on international development.
IDS Communications and Engagement Team (19281925)
core   +2 more sources

Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase

Neurotherapeutics
Mucopolysaccharidosis type II (MPS II) is a neurodegenerative lysosomal storage disorder (LSD) caused by inherited mutations in the iduronate-2-sulfatase (IDS) gene.
Xiu Jin, Qin Ye, Xiaoyi Wu, Jing Su, Li Song, Jiamei Fu, Qiuxia Xu, Min Luo, Fanfei Liu, Chengda Ren, Ming Hu, Man Liu, Yifang An, Qiqi Li, Manjun Li, Yang Yang   +15 more
doaj   +1 more source

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

FEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge, Vivian Pogenberg, Alexander Baumgart, Bente Siebels, Hartmut Schlüter, Michael Hecht‐Bucher, Aymelt Itzen   +6 more
wiley   +1 more source

Ensembl gene IDs

, 2015
A Matlab file containing Flybase (FBgn) gene IDs, their names and chromosomal locations.
Andreas Wollstein (135629), Wolfgang Stephan (14960), Stephan, Wolfgang, Wollstein, Andreas, Hutter, Stephan, Vedran Bozicevic (3282291), Stephan Hutter (14958), Bozicevic, Vedran   +7 more
core   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

A context‐dependent modulatory role for eIF6 in acquired resistance to vemurafenib in melanoma

FEBS Letters, EarlyView.
Acquired resistance to vemurafenib upregulates the translation factor eIF6 in melanoma cells. Silencing eIF6 in resistant cells reduces proliferation and partially restores drug sensitivity, whereas its overexpression increases sensitivity across melanoma lines regardless of BRAF status, via modulation of mTOR, S6K, and MAPK signaling.
George Kyriakopoulos, Antonia Petropoulou, Alexandra Anastogianni, Angelina Bania, Vassilis Stamatakis, Argyris Alexiou, Chi‐Ping Day, Glenn Merlino, Katerina Grafanaki, Constantinos Stathopoulos   +9 more
wiley   +1 more source

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld   +10 more
doaj   +1 more source

Genome-wide identification of the NLR gene family in Haynaldia villosa by SMRT-RenSeq

BMC Genomics, 2022
Background Nucleotide-binding and leucine-rich repeat (NLR) genes have attracted wide attention due to their crucial role in protecting plants from pathogens.
Zhenpu Huang, Fangyuan Qiao, Boming Yang, Jiaqian Liu, Yangqi Liu, Brande B. H. Wulff, Ping Hu, Zengshuai Lv, Ruiqi Zhang, Peidu Chen, Liping Xing, Aizhong Cao   +11 more
doaj   +1 more source