Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manifests with heterogeneous
nucleocapsid (N) protein, membrane (M) protein, and the envelope (E) protein, all of which are required to produce a structurally complete viral particle [29,37,38]. More recently, however, it has become clear that some CoVs do not require the full ensemble of structural proteins to for...
The clinical presentation of NP-C is extremely heterogeneous, with an age of onset ranging from the perinatal period until well into adult age (as late as the seventh decade of life). Similarly, the lifespan of the patients varies between a few days until over 60 years of age, although a...
Host immune response induces conversion of tachyzoites to semi-dormant bradyzoites, which form tissue cysts. The life cycle of T. gondii is completed when tissue cysts are ingested again by cats [7]. Around one-third of the general population worldwide is considered to be infected with T....
The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). The deficiency of PPT1 causes a specific death of neocortical neurons by a ...
Polycomb Group proteins are important epigenetic regulators of gene expression. Epigenetic control by polycomb Group proteins involves intrinsic as well as associated enzymatic activities. Polycomb target genes change with cellular context, lineage commi
form miRNA-containing RNPs (miRNPs). The miRNP complex binds to the complementary target mRNA and recruits deadenylase to repress translation.c,dRNA-RBP interactions.cELAV leads to the expression of long 3’UTR isoforms during neurogenesis by inhibiting proximal PAS usage.dTTP recruits the CCR4-...
To accommodate the needs of the user, BioBin accepts a generic form of prediction output, which makes it possible to use almost any available tool but also accommodates novel functional prediction algorithms. In the subsequent test using 1000 Genomes Project whole-genome data, we used BioBin to...
overall composition of the cell and interactions with nearby cells. Finally, at the multicellular level, we ask how groups of cells of different types come together to form tissues with multifaceted functions. The scales described here map neatly onto the paradigms of autocrine, paracrine, and ...
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