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Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
Heath KE, Argente J, Barrios V, Pozo J, Díaz-González F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A. Heath KE, et al. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. J Clin Endocrinol Metab. 2008. PMID: 18303074
Molecular basis of human obesity.
Martos-Moreno GA, Argente J. Martos-Moreno GA, et al. J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1187-97. doi: 10.1515/JPEM.2005.18.s1.1187. J Pediatr Endocrinol Metab. 2005. PMID: 16398449 Review. No abstract available.
The N-terminal tripeptide of insulin-like growth factor-I protects against beta-amyloid-induced somatostatin depletion by calcium and glycogen synthase kinase 3 beta modulation.
Burgos-Ramos E, Martos-Moreno GA, López MG, Herranz R, Aguado-Llera D, Egea J, Frechilla D, Cenarruzabeitia E, León R, Arilla-Ferreiro E, Argente J, Barrios V. Burgos-Ramos E, et al. J Neurochem. 2009 Apr;109(2):360-70. doi: 10.1111/j.1471-4159.2009.05980.x. Epub 2009 Feb 11. J Neurochem. 2009. PMID: 19220704 Free article.
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Review.
116 results