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Items: 1 to 20 of 28

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.

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.

3.

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S.

J Neurol. 2017 Jan;264(1):11-20. doi: 10.1007/s00415-016-8301-2. Epub 2016 Oct 13.

PMID:
27738760
4.

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 1;25(23):5111-5125. doi: 10.1093/hmg/ddw315.

PMID:
27638887
5.

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.

6.

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.

Alaei MR, Talebi S, Ghofrani M, Taghizadeh M, Keramatipour M.

Iran Biomed J. 2016 Nov;20(5):295-301. Epub 2016 Jul 25.

7.

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.

8.

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
9.

CDP-diacylglycerol synthases regulate the growth of lipid droplets and adipocyte development.

Qi Y, Kapterian TS, Du X, Ma Q, Fei W, Zhang Y, Huang X, Dawes IW, Yang H.

J Lipid Res. 2016 May;57(5):767-80. doi: 10.1194/jlr.M060574. Epub 2016 Mar 5.

10.

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.

11.

Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.

Bhujel N, Clark H.

Eur Arch Paediatr Dent. 2016 Apr;17(2):137-40. doi: 10.1007/s40368-015-0210-z. Epub 2015 Nov 14.

PMID:
26573975
12.

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
13.

Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility.

El Zowalaty AE, Baumann C, Li R, Chen W, De La Fuente R, Ye X.

Cell Death Dis. 2015 Jul 16;6:e1817. doi: 10.1038/cddis.2015.188.

14.

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
15.

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.

16.

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY.

Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23.

PMID:
25721873
17.

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
18.

Clinical and electrophysiological features in a French family presenting with seipinopathy.

Ollivier Y, Magot A, Latour P, Perrier J, Mercier S, Maisonobe T, Péréon Y.

Neuromuscul Disord. 2015 Feb;25(2):161-4. doi: 10.1016/j.nmd.2014.10.006. Epub 2014 Oct 22.

PMID:
25454168
19.

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
20.

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K, Yang W, Sugii S, Han W.

Biosci Rep. 2014 Oct 2;34(5). pii: e00141. doi: 10.1042/BSR20140114. Review.

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