SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-037
Abstract: Abstract Introduction: Type 4 familial partial lipodystrophic syndrome (FPLD4) is an autosomal dominant disease due to frameshift variants of PLIN1 gene. This gene encodes perilipin 1, a protein playing a key role in the structure… read more here.
Keywords: diagnosis; type familial; partial lipodystrophic; lipodystrophic syndrome ... See more keywords
Cellular Metabolism and Bioenergetic Function in Human Fibroblasts and Preadipocytes of Type 2 Familial Partial Lipodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158659
Abstract: LMNA mutation is associated with type-2 familial partial lipodystrophy (FPLD2). The disease causes a disorder characterized by anomalous accumulation of body fat in humans. The dysfunction at the molecular level is triggered by a lamin… read more here.
Keywords: familial partial; metabolism; partial lipodystrophy; fibroblasts preadipocytes ... See more keywords