218 related articles for article (PubMed ID: 17633104)
41. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Ruiz-Riquelme A; Sánchez-Iglesias S; Rábano A; Guillén-Navarro E; Domingo-Jiménez R; Ramos A; Rosa I; Senra A; Nilsson P; García Á; Araújo-Vilar D; Requena JR
Neurobiol Dis; 2015 Nov; 83():44-53. PubMed ID: 26282322
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response.
Qiu W; Wee K; Takeda K; Lim X; Sugii S; Radda GK; Han W
PLoS One; 2013; 8(3):e57874. PubMed ID: 23520483
[TBL] [Abstract][Full Text] [Related]
44. Function of seipin: new insights from Bscl2/seipin knockout mouse models.
Dollet L; Magré J; Cariou B; Prieur X
Biochimie; 2014 Jan; 96():166-72. PubMed ID: 23831461
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. Polycystin-2 is regulated by endoplasmic reticulum-associated degradation.
Liang G; Li Q; Tang Y; Kokame K; Kikuchi T; Wu G; Chen XZ
Hum Mol Genet; 2008 Apr; 17(8):1109-19. PubMed ID: 18178578
[TBL] [Abstract][Full Text] [Related]
47. Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
Renvoisé B; Malone B; Falgairolle M; Munasinghe J; Stadler J; Sibilla C; Park SH; Blackstone C
Hum Mol Genet; 2016 Dec; 25(23):5111-5125. PubMed ID: 27638887
[TBL] [Abstract][Full Text] [Related]
48. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.
Cafforio G; Calabrese R; Morelli N; Mancuso M; Piazza S; Martinuzzi A; Bassi MT; Crippa F; Siciliano G
Neurol Sci; 2008 Jun; 29(3):189-91. PubMed ID: 18612770
[TBL] [Abstract][Full Text] [Related]
49. Seipin: from human disease to molecular mechanism.
Cartwright BR; Goodman JM
J Lipid Res; 2012 Jun; 53(6):1042-55. PubMed ID: 22474068
[TBL] [Abstract][Full Text] [Related]
50. Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression.
Xiong J; Sun P; Wang Y; Hua X; Song W; Wang Y; Wu J; Yu W; Liu G; Chen L
Diabetologia; 2020 Feb; 63(2):338-350. PubMed ID: 31776610
[TBL] [Abstract][Full Text] [Related]
51. Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain.
Garfield AS; Chan WS; Dennis RJ; Ito D; Heisler LK; Rochford JJ
PLoS One; 2012; 7(9):e45790. PubMed ID: 23049863
[TBL] [Abstract][Full Text] [Related]
52. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.
Choi BO; Park MH; Chung KW; Woo HM; Koo H; Chung HK; Choi KG; Park KD; Lee HJ; Hyun YS; Koo SK
Neurogenetics; 2013 Feb; 14(1):35-42. PubMed ID: 23142943
[TBL] [Abstract][Full Text] [Related]
53. Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R; Yuan X; Wang J; Zhang Y
Gene; 2017 Dec; 637():57-62. PubMed ID: 28916377
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.
Craveiro Sarmento AS; Gomes Lima J; de Souza Timoteo AR; Galvão Ururahy MA; Antunes de Araújo A; Carvalho Vasconcelos R; Cândido Dantas VK; Fassarella Agnez-Lima L; Araújo de Melo Campos JT
Biochim Biophys Acta Mol Cell Biol Lipids; 2020 Apr; 1865(4):158610. PubMed ID: 31917334
[TBL] [Abstract][Full Text] [Related]
56. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
Antuna-Puente B; Boutet E; Vigouroux C; Lascols O; Slama L; Caron-Debarle M; Khallouf E; Lévy-Marchal C; Capeau J; Bastard JP; Magré J
J Clin Endocrinol Metab; 2010 Mar; 95(3):1463-8. PubMed ID: 20097706
[TBL] [Abstract][Full Text] [Related]
57. [ER stress and psychiatric disorders].
Kudo T
Nihon Shinkei Seishin Yakurigaku Zasshi; 2009 Feb; 29(1):1-5. PubMed ID: 19326810
[TBL] [Abstract][Full Text] [Related]
58. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Esapa CT; McIlhinney RA; Blake DJ
Hum Mol Genet; 2005 Jan; 14(2):295-305. PubMed ID: 15574464
[TBL] [Abstract][Full Text] [Related]
59. Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K; Yang W; Sugii S; Han W
Biosci Rep; 2014 Oct; 34(5):. PubMed ID: 25195639
[TBL] [Abstract][Full Text] [Related]
60. Lack of testicular seipin causes teratozoospermia syndrome in men.
Jiang M; Gao M; Wu C; He H; Guo X; Zhou Z; Yang H; Xiao X; Liu G; Sha J
Proc Natl Acad Sci U S A; 2014 May; 111(19):7054-9. PubMed ID: 24778225
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
