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Mcardle disease: New insights into its underlying molecular mechanisms
(Molecular Diversity Preservation International, 2019-12)
McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate PYGM mutations in ...
Spliced X-Box Binding Protein 1 Couples the Unfolded Protein Response to Hexosamine Biosynthetic Pathway
(Elsevier, 2014-03-13)
The hexosamine biosynthetic pathway (HBP) generates
uridine diphosphate N-acetylglucosamine
(UDP-GlcNAc) for glycan synthesis and O-linked
GlcNAc (O-GlcNAc) protein modifications. Despite
the established role of the ...
Hexosamine pathway regulates StarD7 expression in JEG-3 cells
(Springer, 2018-12)
StarD7 is a lipid binding protein involved in the delivery of phosphatidylcholine to the mitochondria whose promoter is activated by Wnt/β-catenin signaling. Although the majority of glucose enters glycolysis, ~ 2–5% of ...
Plasmodium falciparum apicomplexan-specific glucosamine-6-phosphate n-acetyltransferase is key for amino sugar metabolism and asexual blood stage development
(2020-09-01)
UDP-N-acetylglucosamine (UDP-GlcNAc), the main product of the hexosamine biosynthetic pathway, is an important metabolite in protozoan parasites since its sugar moiety is incorporated into glycosylphosphatidylinositol (GPI) ...
Multitranscript analysis reveals an effect of 2-deoxy-d-glucose on gene expression linked to unfolded protein response and integrated stress response in primary human monocytes and monocyte-derived macrophages
(ElsevierInmunovirologíaÁmsterdam, Países Bajos, 2023)
Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico
(Universidad Nacional de ColombiaBogotá - Ciencias - Doctorado en Ciencias - BiologíaFacultad de CienciasBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá, 2023-05-31)
El estudio de muerte súbita cardiaca es muy importante, dada la alta incidencia a nivel mundial, y en los países industrializados se ha convertido un problema de salud pública. Sin embargo, el abordaje de este tipo de ...