The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy

UETeM investigators in collaboration with NIH scientists have described a new subtype of Celia’s Encephalopathy. These findings open the clinical spectrum of this devastating paediatric disease and reinforce its pathogenetics mechanisms. The manuscript will be published this month in Neurogenetics.

26th March 2019 Update: the article has now been published online --> PubMed link

Efficacy of metreleptin treatment in familial partial lipodystrophy due to PPARG versus LMNA pathogenic variants

12 Mar, 2019

Sekizkardes H, Cochran E, Malandrino N, Garg G and Brown RJ
The Journal of Clinical Endocrinology & Metabolism

doi: 10.1210/jc.2018-02787

https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/jc.2018-02787/5371329

Visceral fat does not contribute to metabolic disease in lipodystrophy.

10 Mar, 2019

Malandrino N et al.
Obes Sci Pract. 2019.

doi: 10.1002/osp4.319

https://www.ncbi.nlm.nih.gov/m/pubmed/30847226/

Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics

12 Jan, 2019

Review article from Crasto and Di Pasquale

Front Cell Dev Biol. 2018; 6: 172.
doi: 10.3389/fcell.2018.00172.

Promethin Is a Conserved Seipin Partner Protein.

Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARG and insulin resistance.

Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome.

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