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Mostrando ítems 11-20 de 33
New insights about Na+/Ca2+ exchangers and protein glycosylation in human cells
(Reaserch Trends, 2017-09)
Na+/Ca2+ exchangers (NCX and NCKX proteins) contribute to Ca2+ homeostasis and recent studies have demonstrated the expression of NCX1 (SLC8) and NCKX1 (SLC24) proteins in human platelets. A tight ([Ca2+]i) is necessary ...
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien
(Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos, 2021-07)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
(Latin American Society Inborn Errors and Neonatal Screening, 2021-08)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(Springer, 2020-11)
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide ...
Conserved Glu-47 and Lys-50 residues are critical for UDP-N-acetylglucosamine/UMP antiport activity of the mouse Golgi-associated transporter Slc35a3
(American Society for Biochemistry and Molecular Biology, 2019-05)
Nucleotide sugar transporters (NSTs) regulate the flux of activated sugars from the cytosol into the lumen of the Golgi apparatus where glycosyltransferases use them for the modification of proteins, lipids, and proteoglycans. ...
Defects in protein folding in congenital hypothyroidism
(Elsevier Ireland, 2019-11-18)
Primary congenital hypothyroidism (CH) is the most commonendocrine disease in children and one of the most common preventablecauses of both cognitive and motor deficits. CH is a heterogeneous groupof thyroid disorders in ...
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects
(Academia Brasileira de Neurologia - ABNEURO, 2009)
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, ...
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG
(Springer, 2012-09)
In the past decade, the identification of most genes involved in Congenital Disorders of Glycosylation (CDG) (type I) was achieved by a combination of biochemical, cell biological and glycobiological investigations. This ...