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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
- Kimberly M Szymanski, D. Binns, J. Goodman
- BiologyProceedings of the National Academy of Sciences
- 26 December 2007
It is hypothesized that seipin is important for droplet maintenance and perhaps assembly, and 58 other genes whose deletions cause aberrant lipid droplets are identified, including 2 genes encoding proteins known to activate lipin, a lipodystrophy locus in mice, and 16 other genes that are involved in endosomal–lysosomal trafficking.
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
It is concluded that mutations in ZMPSTE24 may cause MAD by affecting prelamin A processing by affecting the mating defect of the haploid MATa yeast lacking STE24 and Ras-converting enzyme 1 (RCE1; another prenylprotein-specific endoprotease) genes.
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
It is concluded that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes.
Seipin is required for converting nascent to mature lipid droplets
Using Drosophila and human cells, it is shown that seipin, an ER protein implicated in LD biology, mediates a discrete step in LD formation—the conversion of small, nascent LDs to larger, mature LDs.
Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase
The gene encoding the kidney isozyme of 11βHSD is analysed and mutations on both alleles in nine of 11 AME patients (eight of nine kindreds) markedly affect enzymatic activity and permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.
Mutations in the HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11-HSD have been detected in all kindreds with AME studied thus far, and this gene represents a candidate locus for the common, "essential" form of hypertension.
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
Genetic disorders of adipose tissue development, differentiation, and death.
The molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations are focused on.
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype
A genetic cause has now been implicated following the identification of de novo heterozygous mutations in the LMNA gene in the majority of HGPS patients, which is an extremely rare but devastating disorder that mimics premature aging.
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
A novel autosomal recessive form of familial partial lipodystrophy is described and observations suggest that CIDEC is required for unilocular lipid droplet formation and optimal energy storage in human fat.