Our research is focused in understanding in human the genetics and molecular basis of congenital generalized lipodystrophy (an adipose tissue disorder), an autosomal recessive disorder characterized by extreme lack of body fat since birth associated with severe insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. We are also engaged in understanding the biochemistry of 1-acylglycerol-3-phosphate-O-acyltransferase, which causes lipodystrophy (all 11 isoforms) at several levels, including substrate preferences, tissue expression and regulation in cellular models as well as physiological function in knockout murine models. We also study the genetic and molecular derangement in human pre mature aging.
RESEARCH INTERESTS
Molecular aspects of lipodystrophy
Molecular aspects of premature aging
Functional aspects of acyltransferases
RECENT PUBLICATIONS
Pan Y, Garg A, Agarwal AK., "Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells." Biochem Biophys Res Commun., 355(1):78-84, March 2007
Sherbet DP, Papari-Zareei M, Khan N, Sharma KK, Brandmaier A, Rambally S, Chattopadhyay A, Andersson S, Agarwal AK, Auchus RJ., "Cofactors, redox state, and directional preferences of hydroxysteroid dehydrogenases." Mol Cell Endocrinol., 265-266:83-8, February 2007
Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T., "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." Hum Mutat., 27(6):524-31, June 2006
Agarwal AK, Barnes RI, Garg A., "Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity." Arch Biochem Biophys., 449(1-2):64-7, May 2006
Agarwal AK, Sukumaran S, Bartz R, Barnes RI, Garg A, "Functional characterization of human 1-Acylglycerol-3-Phosphate-O- acyltransferase isoform 9: cloning, tissue distribution, gene structure and enzymatic activity." J Endocrinol, 193:445-457, 2007
SIGNIFICANT PUBLICATIONS
Mune T, Rogerson RM, Nikkila H, Agarwal AK, White PC, "Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase." Nat Genet, 10:394-399, 1995
Agarwal AK, Monder C, Eckstein B, White PC., "Cloning and expression of rat cDNA encoding corticosteroid 11β- dehydrogenase." J Biol Chem, 264:18939-18943, 1989
Agarwal AK, Mune T, Monder C, White PC, "NAD+-dependent isoform of 11β-hydroxysteroid dehydrogenase" J Biol Chem, 269:25959-25962, 1994
Agarwal AK, Arioglu E, Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI Garg A,, "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34." Nature Genetics, 31:21-23, 2002
Agarwal AK, Fryns J-P, Auchus RJ, Garg A, "Zinc metalloproteinase ZMPSTE24 is mutated in mandibuloacral dysplasia." Hum Mol Genet, 12:1995-2001, 2003
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