412 related articles for article (PubMed ID: 21551454)
21. Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice.
Wang H; Xu PF; Li JY; Liu XJ; Wu XY; Xu F; Xie BC; Huang XM; Zhou ZH; Kayoumu A; Liu G; Huang W
Am J Physiol Endocrinol Metab; 2019 Jan; 316(1):E54-E62. PubMed ID: 30457912
[TBL] [Abstract][Full Text] [Related]
22. Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
Gomes KB; Pardini VC; Fernandes AP
Clin Chim Acta; 2009 Apr; 402(1-2):1-6. PubMed ID: 19167372
[TBL] [Abstract][Full Text] [Related]
23. A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
Huang HH; Chen TH; Hsiao HP; Huang CT; Wang CC; Shiau YH; Chao MC
Kaohsiung J Med Sci; 2010 Nov; 26(11):615-20. PubMed ID: 21126715
[TBL] [Abstract][Full Text] [Related]
24. Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Zhou H; Lei X; Yan Y; Lydic T; Li J; Weintraub NL; Su H; Chen W
JCI Insight; 2019 Jun; 5(14):. PubMed ID: 31185001
[TBL] [Abstract][Full Text] [Related]
25. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation.
Chen W; Yechoor VK; Chang BH; Li MV; March KL; Chan L
Endocrinology; 2009 Oct; 150(10):4552-61. PubMed ID: 19574402
[TBL] [Abstract][Full Text] [Related]
26. GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.
Gao M; Liu L; Wang X; Mak HY; Liu G; Yang H
Hum Mol Genet; 2020 Feb; 29(3):432-443. PubMed ID: 31873720
[TBL] [Abstract][Full Text] [Related]
27. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.
Ye JY; Huang AJ; Fu ZZ; Gong YY; Yang HY; Zhou HW
Yi Chuan; 2022 Oct; 44(10):926-936. PubMed ID: 36384728
[TBL] [Abstract][Full Text] [Related]
28. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
Friguls B; Coroleu W; del Alcazar R; Hilbert P; Van Maldergem L; Pintos-Morell G
Eur J Med Genet; 2009; 52(1):14-6. PubMed ID: 19041432
[TBL] [Abstract][Full Text] [Related]
29. Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease.
Mcilroy GD; Suchacki K; Roelofs AJ; Yang W; Fu Y; Bai B; Wallace RJ; De Bari C; Cawthorn WP; Han W; Delibegović M; Rochford JJ
Mol Metab; 2018 Apr; 10():55-65. PubMed ID: 29459250
[TBL] [Abstract][Full Text] [Related]
30. A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E; Sánchez-Iglesias S; Domingo-Jiménez R; Victoria B; Ruiz-Riquelme A; Rábano A; Loidi L; Beiras A; González-Méndez B; Ramos A; López-González V; Ballesta-Martínez MJ; Garrido-Pumar M; Aguiar P; Ruibal A; Requena JR; Araújo-Vilar D
J Med Genet; 2013 Jun; 50(6):401-9. PubMed ID: 23564749
[TBL] [Abstract][Full Text] [Related]
31. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Miranda DM; Wajchenberg BL; Calsolari MR; Aguiar MJ; Silva JM; Ribeiro MG; Fonseca C; Amaral D; Boson WL; Resende BA; De Marco L
Clin Endocrinol (Oxf); 2009 Oct; 71(4):512-7. PubMed ID: 19226263
[TBL] [Abstract][Full Text] [Related]
32. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
Ito D; Suzuki N
Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
[TBL] [Abstract][Full Text] [Related]
33. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].
Ito D; Suzuki N
Rinsho Shinkeigaku; 2007 Jun; 47(6):329-35. PubMed ID: 17633104
[TBL] [Abstract][Full Text] [Related]
34. Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice.
Xu W; Zhou H; Xuan H; Saha P; Wang G; Chen W
Mol Cell Endocrinol; 2019 Feb; 482():1-10. PubMed ID: 30521848
[TBL] [Abstract][Full Text] [Related]
35. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
Gomes KB; Pardini VC; Ferreira AC; Fonseca CG; Fernandes AP
Ann Hum Genet; 2007 Nov; 71(Pt 6):729-34. PubMed ID: 17535271
[TBL] [Abstract][Full Text] [Related]
36. Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.
Magré J; Prieur X
Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35054926
[TBL] [Abstract][Full Text] [Related]
37. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Nishiyama A; Yagi M; Awano H; Okizuka Y; Maeda T; Yoshida S; Takeshima Y; Matsuo M
Pediatr Int; 2009 Dec; 51(6):775-9. PubMed ID: 19438831
[TBL] [Abstract][Full Text] [Related]
38. Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands.
Montenegro RM; Fernandes VO; Penaforte Saboia JG; Montenegro APDR; Lima JG
J Pediatr; 2019 Apr; 207():257-257.e1. PubMed ID: 30579587
[No Abstract] [Full Text] [Related]
39. Membrane topology of the human seipin protein.
Lundin C; Nordström R; Wagner K; Windpassinger C; Andersson H; von Heijne G; Nilsson I
FEBS Lett; 2006 Apr; 580(9):2281-4. PubMed ID: 16574104
[TBL] [Abstract][Full Text] [Related]
40. Alleviation of seipinopathy-related ER stress by triglyceride storage.
Hölttä-Vuori M; Salo VT; Ohsaki Y; Suster ML; Ikonen E
Hum Mol Genet; 2013 Mar; 22(6):1157-66. PubMed ID: 23250914
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]