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The innate immune signaling pathway plays a crucial role in the recognition and early response to pathogens associated with disease. Genetic analysis has been unable to completely account for individual variability in the strength of the innate immune response. The aim of this study was to determine...
ORGANISM(S): Bos taurus 
The characterization of therapeutic glycoproteins is challenging due to the structural micro- and macro-heterogeneity of the protein glycosylation. This study presents an in-depth strategy for glycosylation analysis using first-generation erythropoietin (epoetin beta), including a developed top-down...
ORGANISM(S): Mus musculus (Mouse) 
2021-06-14 | PXD024835 | Pride
The two non-visual arrestin isoforms, arrestin2 and arrestin3, recognize and bind hundreds of G protein-coupled receptors (GPCRs) with different phosphorylation patterns leading to distinct functional outcomes. Whereas the impact of phosphorylation of the vasopressin 2 receptor and rhodopsin on arre...
ORGANISM(S): Homo sapiens (Human) 
2023-05-24 | PXD036220 | Pride
NAA15 is a component of the NatA complex that acetylates amino terminal (Nt) protein residues and influences protein synthesis. We identified multiple damaging NAA15 variants in congenital heart disease patients, including four loss-of-function (LoF) variants, one missense (R276W) de novo variant an...
ORGANISM(S): Homo sapiens (Human) 
2021-08-30 | PXD018013 | Pride
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo truncating mutations in the gene KAT6A (Lysine(K) acetyltransferase 6A). ARTHS is clinically heterogeneous but characterized by several common features including intellectual disability, developmental and speec...
ORGANISM(S): Homo sapiens 
2023-08-15 | GSE237020 | GEO
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo truncating mutations in the gene KAT6A (Lysine(K) acetyltransferase 6A). ARTHS is clinically heterogeneous but characterized by several common features including intellectual disability, developmental and speec...
ORGANISM(S): Homo sapiens 
2023-08-15 | GSE237021 | GEO
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