Associated Papers
The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
de Melo MEC et al.
International Journal of Molecular Sciences, 2025
Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.
Somali M et al.
Frontiers in Endocrinology, 2025
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I et al.
Diabetes, Obesity & Metabolism, 2023
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Montenegro Junior RM et al.
Diabetology & Metabolic Syndrome, 2020
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A et al.
Clinical Genetics, 2016
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K et al.
Bioscience Reports, 2014
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Boutet E et al.
Biochimie, 2009
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA et al.
Journal of Lipid Research, 2007
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W et al.
Biochemical and Biophysical Research Communications, 2005
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
Fu M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Genetic basis of congenital generalized lipodystrophy.
Agarwal AK et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2004
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J et al.
Diabetes, 2003
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK et al.
Nature Genetics, 2002
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS et al.
Mutation Research. Reviews in Mutation Research, 0