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Items: 1 to 20 of 115

1.

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 30;637:57-62. doi: 10.1016/j.gene.2017.09.023. Epub 2017 Sep 12.

PMID:
28916377
2.

Architecture of the human interactome defines protein communities and disease networks.

Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW.

Nature. 2017 May 25;545(7655):505-509. doi: 10.1038/nature22366. Epub 2017 May 17.

3.

Seipin regulates ER-lipid droplet contacts and cargo delivery.

Salo VT, Belevich I, Li S, Karhinen L, Vihinen H, Vigouroux C, Magré J, Thiele C, Hölttä-Vuori M, Jokitalo E, Ikonen E.

EMBO J. 2016 Dec 15;35(24):2699-2716. Epub 2016 Nov 22.

4.

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J.

Am J Med Genet A. 2017 Feb;173(2):471-478. doi: 10.1002/ajmg.a.38053. Epub 2016 Nov 21.

5.

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B, Chen Z, Ling L, Yang F, Huang X.

J Peripher Nerv Syst. 2017 Mar;22(1):13-18. doi: 10.1111/jns.12195.

PMID:
27862672
6.

Hepatic BSCL2 (Seipin) Deficiency Disrupts Lipid Droplet Homeostasis and Increases Lipid Metabolism via SCD1 Activity.

Lounis MA, Lalonde S, Rial SA, Bergeron KF, Ralston JC, Mutch DM, Mounier C.

Lipids. 2017 Feb;52(2):129-150. doi: 10.1007/s11745-016-4210-5. Epub 2016 Nov 12.

PMID:
27838812
7.

SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase.

Pagac M, Cooper DE, Qi Y, Lukmantara IE, Mak HY, Wu Z, Tian Y, Liu Z, Lei M, Du X, Ferguson C, Kotevski D, Sadowski P, Chen W, Boroda S, Harris TE, Liu G, Parton RG, Huang X, Coleman RA, Yang H.

Cell Rep. 2016 Nov 1;17(6):1546-1559. doi: 10.1016/j.celrep.2016.10.037.

8.

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.

Su X, Lin R, Huang Y, Sheng H, Li X, Ting TH, Liu L, Li X.

J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):52-57. doi: 10.4274/jcrpe.3556. Epub 2016 Sep 9.

9.

Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.

Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D.

PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016.

10.

An inter-species protein-protein interaction network across vast evolutionary distance.

Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M, Taşan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L, Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabási AL, Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP, Vidal M.

Mol Syst Biol. 2016 Apr 22;12(4):865. doi: 10.15252/msb.20156484.

11.

Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.

Mori E, Fujikura J, Noguchi M, Nakao K, Matsubara M, Sone M, Taura D, Kusakabe T, Ebihara K, Tanaka T, Hosoda K, Takahashi K, Asaka I, Inagaki N, Nakao K.

Metabolism. 2016 Apr;65(4):543-56. doi: 10.1016/j.metabol.2015.12.015. Epub 2016 Jan 7.

PMID:
26975546
12.

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M.

Cell. 2016 Feb 11;164(4):805-17. doi: 10.1016/j.cell.2016.01.029.

13.

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.

Hsiao CT, Tsai PC, Lin CC, Liu YT, Huang YH, Liao YC, Huang HW, Lin KP, Soong BW, Lee YC.

PLoS One. 2016 Jan 27;11(1):e0147677. doi: 10.1371/journal.pone.0147677. eCollection 2016.

14.

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. doi: 10.1016/j.nbd.2015.08.006. Epub 2015 Aug 15.

PMID:
26282322
15.

The BioPlex Network: A Systematic Exploration of the Human Interactome.

Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, Tam S, Zarraga G, Colby G, Baltier K, Dong R, Guarani V, Vaites LP, Ordureau A, Rad R, Erickson BK, Wühr M, Chick J, Zhai B, Kolippakkam D, Mintseris J, Obar RA, Harris T, Artavanis-Tsakonas S, Sowa ME, De Camilli P, Paulo JA, Harper JW, Gygi SP.

Cell. 2015 Jul 16;162(2):425-440. doi: 10.1016/j.cell.2015.06.043.

16.

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.

Ebihara C, Ebihara K, Aizawa-Abe M, Mashimo T, Tomita T, Zhao M, Gumbilai V, Kusakabe T, Yamamoto Y, Aotani D, Yamamoto-Kataoka S, Sakai T, Hosoda K, Serikawa T, Nakao K.

Hum Mol Genet. 2015 Aug 1;24(15):4238-49. doi: 10.1093/hmg/ddv156. Epub 2015 May 1.

PMID:
25934999
17.

Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation.

Fan HD, Chen SP, Sun YX, Xu SH, Wu LJ.

Acta Pharmacol Sin. 2015 Apr;36(4):497-506. doi: 10.1038/aps.2014.164. Epub 2015 Mar 23.

18.

BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

Cen Z, Lu X, Wang Z, Ouyang Z, Xie F, Luo W.

J Clin Neurosci. 2015 Feb;22(2):429-30. doi: 10.1016/j.jocn.2014.08.010. Epub 2014 Dec 5.

PMID:
25487175
19.

A proteome-scale map of the human interactome network.

Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabási AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M.

Cell. 2014 Nov 20;159(5):1212-1226. doi: 10.1016/j.cell.2014.10.050.

20.

BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.

Monteiro A, Real R, Nadais G, Silveira F, Leão M.

Muscle Nerve. 2015 Mar;51(3):456-8. doi: 10.1002/mus.24455. Epub 2015 Jan 9. No abstract available.

PMID:
25219579

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