Results 161 to 170 of about 15,085,302 (278)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Identification of N-linked glycosylation and putative O-fucosylation, C-mannosylation sites in plasma derived ADAMTS13

, 2014
Acquired deficiency of ADAMTS13 causes a rare and life-threatening disorder called thrombotic thrombocytopenic purpura (TTP). Several studies have shown that aberrant glycosylation can play an important role in the pathogenesis of autoimmune diseases.N ...
Sorvillo, N., Matsumoto, M., Fijnheer, R., Meijer, A. B., Verbij, F. C., Voorberg, J., Kaijen, P. H., van der Zwaan, C., Pos, W., Fujimura, Y.   +9 more
core   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

N-linked glycosylation in Campylobacter jejuni and its functional transfer into E. coli.

, 2002
N-linked protein glycosylation is the most abundant posttranslation modification of secretory proteins in eukaryotes. A wide range of functions are attributed to glycan structures covalently linked to asparagine residues within the asparagine-X-serine ...
Dell, Anne, Morris, Howard R., North, Simon J, Haslam, Stuart M., Linton, Dennis; id_orcid, Nita-Lazar, Mihai, Wren, Brendan W, Hitchen, Paul G., Hitchen, Paul G, Linton, Dennis, North, Simon J., Haslam, Stuart M, Wren, Brendan W., Wacker, Michael, Aebi, Markus, Panico, Maria, Morris, Howard R   +16 more
core   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

N-linked glycosylation of flavivirus E protein contributes to viral particle formation. [PDF]

PLoS Pathog, 2023
Ishida K, Yagi H, Kato Y, Morita E.
europepmc   +1 more source

EMNGly: predicting N-linked glycosylation sites using the language models for feature extraction. [PDF]

Bioinformatics, 2023
Hou X, Wang Y, Bu D, Wang Y, Sun S.
europepmc   +1 more source

Synthesis and Activity‐Based Protein Profiling Identifies Aldo‐Keto Reductase 1C3 as Target Protein of Myxoglucamides

Angewandte Chemie International Edition, EarlyView.
Myxoglucamide A—a novel glycolipopeptide isolated from myxobacteria—was synthesized, and activity‐based protein profiling identified aldo‐keto reductase 1C3 (AKR1C3) as its main target in human cells. Structure‐activity relationship studies, together with biophysical characterization and X‐ray crystallography, elucidated the structural basis of AKR1C3 ...
Thomas Siemon, Vivek K. Mishra, Mingming Zhao, Konrad Büssow, Alexander Popoff, Chengzhang Fu, Rolf Müller, Lothar Jänsch, Wulf Blankenfeldt, Mark Brönstrup   +9 more
wiley   +1 more source

A Portal‐Preorganized Cucurbit[7]uril‐Ruthenium Conjugate Enables Motif‐Selective Protein Sensing

Angewandte Chemie International Edition, EarlyView.
Reprogramming cucurbit[7]uril (CB7) recognition through portal engineering transforms an optically silent host into a motif‐selective photoluminescent receptor. The portal‐preorganized CB7‐Rubpy conjugate directly reports changes in aromatic motif accessibility, enabling optical sensing of protein misfolding and refolding.
Patrick Gruhs, Albert Kraft, Vahideh Mahram, Marco Neumaier, Papri Chakraborty, Emily Janz, Maria Vittoria Balli, Pierre Picchetti, Luca Prodi, Manfred Kappes, Frank Biedermann   +10 more
wiley   +1 more source

Multiple N-linked glycosylation sites critically modulate the synaptic abundance of neuroligin isoforms. [PDF]

J Biol Chem, 2023
Benner O, Cast TP, Minamide LS, Lenninger Z, Bamburg JR, Chanda S.   +5 more
europepmc   +1 more source