UETeM - Relevant papers

A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy

Sat, 14 May 2022 09:23:00 +0000

Stanley et al.

J Neuropathol Exp Neurol. 2022 Apr 27;81(5):377-380.

DOI: 10.1093/jnen/nlac013.

https://pubmed.ncbi.nlm.nih.gov/35290466/

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Sat, 14 May 2022 09:22:00 +0000

Mosbah et al.

Orphanet J Rare Dis. 2022 Apr 19;17(Suppl 1):170.

DOI: 10.1186/s13023-022-02308-7.

https://pubmed.ncbi.nlm.nih.gov/35440056/

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network

Sat, 14 May 2022 09:22:00 +0000

Mosbah et al.

Diabetes Obes Metab. 2022 Apr 20.

DOI: 10.1111/dom.14726.

https://pubmed.ncbi.nlm.nih.gov/35445532/

Metreleptin for the treatment of lipodystrophy: leading the way among novel therapeutics for this unmet clinical need

Sat, 14 May 2022 09:22:00 +0000

Stergios and Mantzoro

Current Medical Research and Opinion2022, Ahead-of-print, 1-4.

DOI: 10.1080/03007995.2022.2059974

https://www.tandfonline.com/DOI/epub/10.1080/03007995.2022.2059974?needAccess=true

Seipin forms a flexible cage at lipid droplet formation sites

Sat, 14 May 2022 09:21:00 +0000

Arlt et al.

Nat Struct Mol Biol. 2022 Mar;29(3):194-202.

DOI: 10.1038/s41594-021-00718-y.

https://pubmed.ncbi.nlm.nih.gov/35210614/

Clinical Effects of Sodium-Glucose Transporter Type 2 Inhibitors in Patients With Partial Lipodystrophy

Sat, 14 May 2022 09:21:00 +0000

Bansal et al.

Endocr Pract. 2022 Mar 14;S1530-891X(22)00086-6.

DOI: 10.1016/j.eprac.2022.03.006. Online ahead of print.

https://pubmed.ncbi.nlm.nih.gov/35301125/

Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation

Sat, 14 May 2022 09:19:00 +0000

Wang et al.

Eur J Clin Nutr. 2022 Jan 18.

DOI: 10.1038/s41430-022-01072-y.

https://pubmed.ncbi.nlm.nih.gov/35043011/

Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease

Sat, 14 May 2022 09:19:00 +0000

Magré and Prieur

Int J Mol Sci. 2022 Jan 11;23(2):740.

DOI: 10.3390/ijms23020740.

https://pubmed.ncbi.nlm.nih.gov/35054926/

Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes

Sat, 14 May 2022 09:18:00 +0000

Combot et al.

Cell Rep. 2022 Jan 11;38(2):110213.

DOI: 10.1016/j.celrep.2021.110213.

https://pubmed.ncbi.nlm.nih.gov/35021082/

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy

Sat, 14 May 2022 09:17:00 +0000

Czapiewski et al.

Nat Commun. 2022 Jan 13;13(1):321.

DOI: 10.1038/s41467-021-27869-2.

https://pubmed.ncbi.nlm.nih.gov/35027552