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Items: 1 to 20 of 64

1.

Role of seipin in lipid droplet morphology and hepatitis C virus life cycle.

Clément S, Fauvelle C, Branche E, Kaddai V, Conzelmann S, Boldanova T, Bartosch B, Minehira K, Negro F.

J Gen Virol. 2013 Oct;94(Pt 10):2208-14. doi: 10.1099/vir.0.054593-0. Epub 2013 Aug 1.

PMID:
23907395
2.

Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice.

Prieur X, Dollet L, Takahashi M, Nemani M, Pillot B, Le May C, Mounier C, Takigawa-Imamura H, Zelenika D, Matsuda F, Fève B, Capeau J, Lathrop M, Costet P, Cariou B, Magré J.

Diabetologia. 2013 Aug;56(8):1813-25. doi: 10.1007/s00125-013-2926-9. Epub 2013 May 17.

PMID:
23680914
3.

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU, Khawar N, Khan MA, Ahmed J, Khattak K, Al-Aama JY, Naeem M, Jelani M.

Diagn Pathol. 2013 May 9;8:78. doi: 10.1186/1746-1596-8-78.

4.

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. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.

PMID:
23564749
5.

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M.

Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29.

PMID:
23553728
6.

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. doi: 10.1371/journal.pone.0057874. Epub 2013 Mar 8.

7.

Motor neuron degeneration in a mouse model of seipinopathy.

Guo J, Qiu W, Soh SL, Wei S, Radda GK, Ong WY, Pang ZP, Han W.

Cell Death Dis. 2013 Mar 7;4:e535. doi: 10.1038/cddis.2013.64.

8.

Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus.

Yang W, Thein S, Guo X, Xu F, Venkatesh B, Sugii S, Radda GK, Han W.

Biochem J. 2013 May 15;452(1):37-44. doi: 10.1042/BJ20121870.

PMID:
23458123
9.

Seipin regulates excitatory synaptic transmission in cortical neurons.

Wei S, Soh SL, Qiu W, Yang W, Seah CJ, Guo J, Ong WY, Pang ZP, Han W.

J Neurochem. 2013 Feb;124(4):478-89. doi: 10.1111/jnc.12099. Epub 2012 Dec 27.

10.

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. doi: 10.1007/s10048-012-0346-5. Epub 2012 Nov 10.

PMID:
23142943
11.

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. doi: 10.1371/journal.pone.0045790. Epub 2012 Sep 25.

12.

Seipin: from human disease to molecular mechanism.

Cartwright BR, Goodman JM.

J Lipid Res. 2012 Jun;53(6):1042-55. doi: 10.1194/jlr.R023754. Epub 2012 Apr 2. Review.

13.

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.

Pennisi M, Raggi A, Barone R, Muglia M, Citrigno L, Cantone M, Lanza G, Pennisi G, Ferri R, Bella R.

Acta Neurol Belg. 2012 Mar;112(1):57-64. doi: 10.1007/s13760-012-0042-0. Epub 2012 Feb 9.

PMID:
22427291
14.

Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation.

Chen W, Chang B, Saha P, Hartig SM, Li L, Reddy VT, Yang Y, Yechoor V, Mancini MA, Chan L.

Mol Cell Biol. 2012 Mar;32(6):1099-111. doi: 10.1128/MCB.06465-11. Epub 2012 Jan 23.

15.

Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.

Cui X, Wang Y, Meng L, Fei W, Deng J, Xu G, Peng X, Ju S, Zhang L, Liu G, Zhao L, Yang H.

Am J Physiol Endocrinol Metab. 2012 Mar 15;302(6):E705-13. doi: 10.1152/ajpendo.00237.2011. Epub 2012 Jan 10.

16.

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.

Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N.

Hum Mol Genet. 2011 Oct 1;20(19):3831-40. doi: 10.1093/hmg/ddr304. Epub 2011 Jul 12.

17.

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali PA, Sabatelli M.

Muscle Nerve. 2010 Sep;42(3):448-51. doi: 10.1002/mus.21734.

PMID:
20806400
18.

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.

Rakocević-Stojanović V, Milić-Rasić V, Perić S, Baets J, Timmerman V, Dierick I, Pavlović S, De Jonghe P.

J Neurol Sci. 2010 Sep 15;296(1-2):107-9. doi: 10.1016/j.jns.2010.06.015. Epub 2010 Jul 3.

PMID:
20598714
19.

Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.

Wu YR, Hung SI, Chang YC, Chen ST, Lin YL, Chung WH.

J Neurol Neurosurg Psychiatry. 2009 Oct;80(10):1180-1. doi: 10.1136/jnnp.2008.165977. No abstract available.

PMID:
19762912
20.

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. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31.

PMID:
19438831
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