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Select item 83273801.

Retinyl esters form lipid droplets independently of triacylglycerol and seipin

Martijn R. Molenaar, Kamlesh K. Yadav, Alexandre Toulmay, Tsjerk A. Wassenaar, Muriel C. Mari, Lucie Caillon, Aymeric Chorlay, Ivan E. Lukmantara, Maya W. Haaker, Richard W. Wubbolts, Martin Houweling, Arie Bas Vaandrager, Xavier Prieur, Fulvio Reggiori, Vineet Choudhary, Hongyuan Yang, Roger Schneiter, Abdou Rachid Thiam, William A. Prinz, J. Bernd Helms

J Cell Biol. 2021 Oct 4; 220(10): e202011071. Published online 2021 Jul 29. doi: 10.1083/jcb.202011071

PMCID:: PMC8327380

Abstract Article PDF–5.3M

Select item 79582892.

Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure

Valeria Zoni, Rasha Khaddaj, Ivan Lukmantara, Wataru Shinoda, Hongyuan Yang, Roger Schneiter, Stefano Vanni

Proc Natl Acad Sci U S A. 2021 Mar 9; 118(10): e2017205118. Published online 2021 Mar 5. doi: 10.1073/pnas.2017205118

PMCID:: PMC7958289

Abstract Article PDF–2.4M

Select item 78575933.

Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane

Xavier Prasanna, Veijo T. Salo, Shiqian Li, Katharina Ven, Helena Vihinen, Eija Jokitalo, Ilpo Vattulainen, Elina Ikonen

PLoS Biol. 2021 Jan; 19(1): e3000998. Published online 2021 Jan 22. doi: 10.1371/journal.pbio.3000998

PMCID:: PMC7857593

Abstract Article PDF–4.6M

Select item 77377034.

Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner

Kamil Sołtysik, Yuki Ohsaki, Tsuyako Tatematsu, Jinglei Cheng, Asami Maeda, Shin-ya Morita, Toyoshi Fujimoto

J Cell Biol. 2021 Jan 4; 220(1): e202005026. Published online 2020 Dec 14. doi: 10.1083/jcb.202005026

PMCID:: PMC7737703

Abstract Article PDF–4.4M

Select item 76630865.

SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis

Yi Jin, Yanjie Tan, Pengxiang Zhao, Zhuqing Ren

Int J Mol Sci. 2020 Nov; 21(21): 8208. Published online 2020 Nov 2. doi: 10.3390/ijms21218208

PMCID:: PMC7663086

Abstract Article PDF–1.9M

Select item 72883956.

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar

Neurogenetics. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Neurogenetics. 2019 May; 20(2): 73–82. Published online 2019 Mar 23. doi: 10.1007/s10048-019-00574-5

PMCID:: PMC7288395

Abstract Article PDF–492K

Select item 71851757.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Bobo Xie, Xin Fan, Yaqin Lei, Shang Yi, Qi Yang, Jin Wang, Zailong Qin, Fei Shen, Jingsi Luo, Yiping Shen

Mol Med Rep. 2020 Jun; 21(6): 2296–2302. Published online 2020 Mar 23. doi: 10.3892/mmr.2020.11036

PMCID:: PMC7185175

Abstract Article PDF–709K

Select item 53631658.

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

Xueying Su, Ruizhu Lin, Yonglan Huang, Huiying Sheng, Xiaofei Li, Tzer Hwu Ting, Li Liu, Xiuzhen Li

J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 52–57. Published online 2017 Mar 1. doi: 10.4274/jcrpe.3556

PMCID:: PMC5363165

Abstract Article PDF–456K

Select item 52473129.

High Incidence of BSCL2 Intragenic Recombinational Mutation in Peruvian Type 2 Berardinelli–Seip Syndrome

Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M. Hisama, George M. Martin, Junko Oshima

Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 1.

Published in final edited form as: Am J Med Genet A. 2017 Feb; 173(2): 471–478. Published online 2016 Nov 21. doi: 10.1002/ajmg.a.38053

PMCID:: PMC5247312

Abstract Article PDF–577K

Select item 517526910.

RE-ANALYSIS OF AN ORIGINAL CMTX3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL2 MUTATION

RABIA CHAUDHRY, ADITI KIDAMBI, MEGAN HWA BREWER, ANTHONY ANTONELLIS, KATHERINE MATHEWS, GARTH NICHOLSON, MARINA KENNERSON

Muscle Nerve. Author manuscript; available in PMC 2016 Dec 21.

Published in final edited form as: Muscle Nerve. 2013 Jun; 47(6): 922–924. Published online 2013 Mar 29. doi: 10.1002/mus.23743

PMCID:: PMC5175269

Article PDF–156K

Select item 493820511.

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

Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar

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

PMCID:: PMC4938205

Abstract Article PDF–5.0M

Select item 472947812.

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

Cheng-Tsung Hsiao, Pei-Chien Tsai, Chou-Ching Lin, Yo-Tsen Liu, Yen-Hua Huang, Yi-Chu Liao, Han-Wei Huang, Kon-Ping Lin, Bing-Wen Soong, Yi-Chung Lee

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

PMCID:: PMC4729478

Abstract Article PDF–1.7M

Select item 438730513.

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

Hua-dong Fan, Shao-peng Chen, Yu-xiang Sun, Shao-hai Xu, Li-jun Wu

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

PMCID:: PMC4387305

Abstract Article PDF–3.7M

Select item 407643414.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar

BMC Med Genet. 2014; 15: 71. Published online 2014 Jun 24. doi: 10.1186/1471-2350-15-71

PMCID:: PMC4076434

Abstract Article PDF–1.1M

Select item 382434915.

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

M. F. Michelle Sim, M. Mesbah Uddin Talukder, Rowena J. Dennis, Stephen O’Rahilly, J. Michael Edwardson, Justin J. Rochford

Diabetologia. 2013; 56(11): 2498–2506. Published online 2013 Aug 30. doi: 10.1007/s00125-013-3029-3

PMCID:: PMC3824349

Abstract Article PDF–437K

Select item 365583216.

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

Obaid Ur Rahman, Nadeem Khawar, Muhammad Aman Khan, Jawad Ahmed, Kamran Khattak, Jumana Yousuf Al-Aama, Muhammad Naeem, Musharraf Jelani

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

PMCID:: PMC3655832

Abstract Article PDF–1.6M

Select item 361384217.

Motor neuron degeneration in a mouse model of seipinopathy

J Guo, W Qiu, S L Y Soh, S Wei, G K Radda, W-Y Ong, Z P Pang, W Han

Cell Death Dis. 2013 Mar; 4(3): e535. Published online 2013 Mar 7. doi: 10.1038/cddis.2013.64

PMCID:: PMC3613842

Abstract Article PDF–2.9M

Select item 335181218.

Seipin: from human disease to molecular mechanism

Bethany R. Cartwright, Joel M. Goodman

J Lipid Res. 2012 Jun; 53(6): 1042–1055. doi: 10.1194/jlr.R023754

PMCID:: PMC3351812

Abstract Article PDF–867K

Select item 327240319.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

Barbara Rohkamm, Mary M. Reilly, Hanns Lochmüller, Beate Schlotter-Weigel, Nina Barisic, Ludger Schöls, Garth Nicholson, Davide Pareyson, Matilde Laurà, Andreas R. Janecke, Gabriel Miltenberger-Miltenyi, Elisabeth John, Carina Fischer, Franz Grill, William Wakeling, Mary Davis, Thomas R. Pieber, Michaela Auer-Grumbach

J Neurol Sci. Author manuscript; available in PMC 2012 Feb 5.

Published in final edited form as: J Neurol Sci. 2007 Dec 15; 263(1-2): 100–106. Published online 2007 Jul 30. doi: 10.1016/j.jns.2007.06.047

PMCID:: PMC3272403

Abstract Article PDF–303K

Select item 275821620.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Esther Brusse, Danielle Majoor-Krakauer, Bianca M. de Graaf, Gerhard H. Visser, Sigrid Swagemakers, Agnita J.W. Boon, Ben A. Oostra, Aida M. Bertoli-Avella

Neurogenetics. 2009; 10(4): 289–297. Published online 2009 Apr 24. doi: 10.1007/s10048-009-0193-1

PMCID:: PMC2758216

Abstract Article PDF–603K

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