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

14 May, 2022

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)

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

14 May, 2022

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

Increased miR 187 3p expression after cerebral ischemia/reperfusion induces apoptosis via initiation of endoplasmic reticulum stress

14 May, 2022

Ren et al. 

Neurosci Lett. 2021 Aug 10;759:135947.

DOI: 10.1016/j.neulet.2021.135947. Epub 2021 May 17.

https://pubmed.ncbi.nlm.nih.gov/34015413/

Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings

14 May, 2022

Akinci et al.

Med (N Y). 2021 Jul 9;2(7):814-835.

DOI: 10.1016/j.medj.2021.04.001.

https://pubmed.ncbi.nlm.nih.gov/35291351/

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/

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2019 UETeM Laboratory