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The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy

17 Aug, 2019

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.

27 May, 2019
Iwanishi M, et al.
Diabetes Res Clin Pract. 2019
doi: 10.1016/j.diabres.2019.04.034

https://www.ncbi.nlm.nih.gov/m/pubmed/31102683/

Acquired generalized lipodystrophy under immune checkpoint inhibition

18 May, 2019

Haddad N, et al.
Br J Dermatol. 2019
doi: 10.1111/bjd.18124.

https://www.ncbi.nlm.nih.gov/m/pubmed/31077337/

Lipid droplet biogenesis

11 May, 2019

Review article from Jackson CL
Curr Opin Cell Biol. 2019
doi: 10.1016/j.ceb.2019.03.018

https://www.ncbi.nlm.nih.gov/m/pubmed/31075519/

Promethin: a new seipin partner

30 Mar, 2019

Promethin Is a Conserved Seipin Partner Protein.

Castro IG et al.
Cells. 2019.
doi: 10.3390/cells8030268

https://www.ncbi.nlm.nih.gov/m/pubmed/30901948/

Seipin deficiency in mouse is related with tau phosphorylation through PPARG reduction in neurons

30 Mar, 2019

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.

https://www.ncbi.nlm.nih.gov/m/pubmed/30910747/
 
 
 

Minipig model for HGPS

30 Mar, 2019

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.

23 Mar, 2019
Del Campo L et al.
Aging Cell. 2019
doi: 10.1111/acel.12936

https://www.ncbi.nlm.nih.gov/m/pubmed/30884114/

Breaking news: description of a new subtype of Celia's Encephalopathy

17 Mar, 2019

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.

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2019 UETeM Laboratory