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A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS
ArticleAbstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by aPalabras claves:Aging disorder, HGPS, Hutchinson-Gilford progeria syndrome, Lamin A, LMNA, Mandibuloacral dysplasia, Nuclear lamina, ZMPSTE24Autores:Agarwal A.K., Brune T., Denecke J., Feldhaus T., Kranz C., Marquardt T., Richard J. Auchus, Robenek H.Fuentes:scopusMetabolic, reproductive, and neurologic abnormalities in Agpat1-Null Mice
ArticleAbstract: Defects in the biosynthesis of phospholipids and neutral lipids are associated with cell membrane dyPalabras claves:Autores:Agarwal A.K., Dalal J., Garg A., Hamra F., Nagamma S., Richard J. Auchus, Sankella S., Shao X., Tunison K.Fuentes:scopusSevere mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings
ArticleAbstract: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome, characterized by maPalabras claves:Lamin A, Lipodystrophy, Mandibuloacral dysplasia, Progeroid syndrome, ZMPSTE24Autores:Agarwal A.K., Akagi M., Garg A., Kato-Nishimura K., Miyoshi Y., Mohri I., Mushiake S., Nakajima S., Namba N., Ozono K., Richard J. Auchus, Shima M., Taniike M., Yamagata M.Fuentes:scopusZinc metalloproteinase ZMPSTE24, is mutated in mandibuloacral dysplasia
ArticleAbstract: Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous,Palabras claves:Autores:Agarwal A.K., Fryns J., Garg A., Richard J. AuchusFuentes:scopus