Browsing by Author "Goldenberg, D."
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- ItemDivergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. A clinical, genetic and in silico study(2014) Cortés, V.A.; Smalley, S.V.; Goldenberg, D.; Lagos, C.F.; Hodgson, M.I.; Santos, J.L.Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a Chilean family. These patients have notoriously dissimilar metabolic abnormalities that correlate with differential levels of circulating leptin and soluble leptin receptor fraction. Sequencing of AGPAT2 exons and exon-intron boundaries revealed two homozygous mutations in both sisters. Missense mutation c.299G>A changes a conserved serine in the acyltransferase NHX4D motif of AGPAT2 (p.Ser100Asn). Intronic c.493-1G>C mutation destroy a conserved splicing site that likely leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain. In silico protein modeling provided insights of the mechanisms of lack of catalytic activity owing to both mutations.
- ItemLa hipótesis de Pedersen no es suficiente : otros nutrientes además de la glucosa explicarían la macrosomía fetal en pacientes diabéticas gestacionales con sobrepeso y buen control glicémico(2013) Olmos Coelho, Pablo Roberto; Martelo, G.; Reimer, V.; Rigotti Rivera, Attilio; Busso, Dolores; Belmar Jones, Cristián Gastón; González Pérez, Rogelio Iván; Goldenberg, D.; Samith Catalán, Bárbara Patricia; Santos Martín, José Luis; Escalona, M.; Quezada, T.; Faundez, J.; Nicklitschek, I.
- ItemPerfil lipídico en mujeres embarazadas sanas de tres regiones de Chile(2014) Olmos Coelho, Pablo Roberto; Escalona, M.; Illanes, S.; Caradeux, J.; Mardones, G.; Olivari, D.; Fuentes, L.; Acosta, A.; Rigotti Rivera, Attilio; Busso, Dolores; Santos Martín, José Luis; Poblete, J.; Vera, C.; Belmar Canales, Jorge; Goldenberg, D.; Samith, B.; Niklitschek, I.; Mertens, N.
- ItemPreventive Letter : Doubling the Return Rate After Gestational Diabetes Mellitus(2015) Olmos Coelho, Pablo Roberto; Borzone, Gisella; Berkowitz Fiebich, Loni; Mertens, N.; Busso, Dolores; Santos Martín, José Luis; Poblete L., José A.; Vera Pérez-Gacitúa, Claudio Mauricio; Belmar Jones, Cristián Gastón; Goldenberg, D.; Samith, B.; Acosta, A.; Escalona, M.