Associated Papers
Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
Patni N et al.
International Journal of Molecular Sciences, 2026
Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects.
Kim S et al.
Plos One, 2023
Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice.
Gupta A et al.
The Journal of Biological Chemistry, 2022
Fsp27 plays a crucial role in muscle performance.
Slayton M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2022
Not Enough Fat: Mouse Models of Inherited Lipodystrophy.
Le Lay S et al.
Frontiers in Endocrinology, 2022
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
What the genetics of lipodystrophy can teach us about insulin resistance and diabetes.
Vatier C et al.
Current Diabetes Reports, 2013
Human congenital perilipin deficiency and insulin resistance.
Kozusko K et al.
Endocrine Development, 2013
How to diagnose a lipodystrophy syndrome.
Vantyghem MC et al.
Annales D'endocrinologie, 2012
Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity.
Vigouroux C et al.
The International Journal of Biochemistry & Cell Biology, 2011
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O et al.
Embo Molecular Medicine, 2009
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