The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
Craveiro Sarmento AS, et al.
Mutat Res. 2019
https://www.ncbi.nlm.nih.gov/m/pubmed/31416577
Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.
Diabetes Res Clin Pract. 2019
Acquired generalized lipodystrophy under immune checkpoint inhibition
Haddad N, et al.
Br J Dermatol. 2019
doi: 10.1111/bjd.18124.
Lipid droplet biogenesis
Review article from Jackson CL
Curr Opin Cell Biol. 2019
doi: 10.1016/j.ceb.2019.03.018
Promethin: a new seipin partner
Promethin Is a Conserved Seipin Partner Protein.
Castro IG et al.
Cells. 2019.
doi: 10.3390/cells8030268
Seipin deficiency in mouse is related with tau phosphorylation through PPARG reduction in neurons
Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARG and insulin resistance.
Chang H et al.
Neurobiol Dis. 2019.
doi: 10.1016/j.nbd.2019.03.023.
Minipig model for HGPS
Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome.
Dorado B. et al.
Cell Discov. 2019.
doi: 10.1038/s41421-019-0084-z
https://www.ncbi.nlm.nih.gov/m/pubmed/30911407/
Vascular smooth muscle cell-specific progerin expression in a mouse model of Hutchinson-Gilford progeria syndrome promotes arterial stiffness: Therapeutic effect of dietary nitrite.
Aging Cell. 2019
Breaking news: description of a new subtype of Celia's Encephalopathy
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
The Journal of Clinical Endocrinology & Metabolism
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.
Obes Sci Pract. 2019.
Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics
Front Cell Dev Biol. 2018; 6: 172.
doi: 10.3389/fcell.2018.00172.
Recent Posts
-
Antía Fernández Pombo wins the Best Oral Clinical Communication at SGENM2019
16 Nov, 2019 -
Official presentation of LipoDDx
29 Oct, 2019 -
Interview of Prof. David Araújo-Vilar in La Voz de Galicia
20 Oct, 2019 -
ECLip2019: a success!
19 Oct, 2019 -
Prof. David Araújo-Vilar, elected President of the European Consortium of Lipodystrophies (ECLip)
19 Oct, 2019 -
2020 ECLip Annual Meeting
24 Sep, 2019 -
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
17 Aug, 2019