| Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-kappaB pathway. | Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway.
Guo D, Hu L, Xie P, Sun P, Yu W. | 06/10/2024 |
| Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy. | Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.
Zhu X, An X, Chen M, Guo D, Xie P, Wang B, Huang Z, Yu W., Free PMC Article | 12/27/2023 |
| Pathogenic variants in three families with distal muscle involvement. | Pathogenic variants in three families with distal muscle involvement.
Weterman MAJ, Bronk M, Jongejan A, Hoogendijk JE, Krudde J, Karjosukarso D, Goebel HH, Aronica E, Jöbsis GJ, van Ruissen F, van Spaendonck-Zwarts KY, de Visser M, Baas F. | 02/4/2023 |
| A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b. | A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.
Saito S, Ishikawa T, Ninagawa S, Okada T, Mori K., Free PMC Article | 12/3/2022 |
| [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
Sun B, He ZQ, Wang HF, Li YR, Yang F, Cui F, Chen ZH, Huang XS. | 08/13/2022 |
| Retinyl esters form lipid droplets independently of triacylglycerol and seipin. | Retinyl esters form lipid droplets independently of triacylglycerol and seipin.
Molenaar MR, Yadav KK, Toulmay A, Wassenaar TA, Mari MC, Caillon L, Chorlay A, Lukmantara IE, Haaker MW, Wubbolts RW, Houweling M, Vaandrager AB, Prieur X, Reggiori F, Choudhary V, Yang H, Schneiter R, Thiam AR, Prinz WA, Helms JB., Free PMC Article | 12/4/2021 |
| Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure. | Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure.
Zoni V, Khaddaj R, Lukmantara I, Shinoda W, Yang H, Schneiter R, Vanni S., Free PMC Article | 08/21/2021 |
| Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study. | Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A. | 06/26/2021 |
| Clinical features of inherited neuropathy with BSCL2 mutations in Japan. | Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, Takashima H. | 06/5/2021 |
| Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane. | Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane.
Prasanna X, Salo VT, Li S, Ven K, Vihinen H, Jokitalo E, Vattulainen I, Ikonen E., Free PMC Article | 05/29/2021 |
| Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner. | Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner.
Sołtysik K, Ohsaki Y, Tatematsu T, Cheng J, Maeda A, Morita SY, Fujimoto T., Free PMC Article | 05/22/2021 |
| SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis. | SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis.
Jin Y, Tan Y, Zhao P, Ren Z., Free PMC Article | 04/3/2021 |
| Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligationdependent probe amplification in an infant with congenital generalized lipodystrophy. | Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
Xie B, Fan X, Lei Y, Yi S, Yang Q, Wang J, Qin Z, Shen F, Luo J, Shen Y., Free PMC Article | 02/13/2021 |
| Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. | Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
Sim MFM, Persiani E, Talukder MMU, Mcilroy GD, Roumane A, Edwardson JM, Rochford JJ., Free PMC Article | 12/5/2020 |
| These results suggest that seipin supports the formation of structurally uniform endoplasmic reticulum lipid droplet (LD) contacts and facilitates the delivery of triglycerides from endoplasmic reticulum to LD. This counteracts ripening-induced shrinkage of small LD. | Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact.
Salo VT, Li S, Vihinen H, Hölttä-Vuori M, Szkalisity A, Horvath P, Belevich I, Peränen J, Thiele C, Somerharju P, Zhao H, Santinho A, Thiam AR, Jokitalo E, Ikonen E. | 05/16/2020 |
| Seven mutations in BSCL2 were found among congenital generalized lipodystrophy patients, in which splice site mutation c.404+1G > T, nonsense mutation c.402C > G, and frameshift mutation c.759_760delGA were novel. | Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y, Li D, Ding Y, Kang L, Jin Y, Song J, Li H, Yang Y. | 01/25/2020 |
| the effects of SEIPIN on triglyceride and PGC-1alpha are dependent on calcium concentrations, signifying regulatory activity on hepatic lipometabolism through alterations in the intracellular calcium level. | SEIPIN overexpression in the liver may alleviate hepatic steatosis by influencing the intracellular calcium level.
Li Q, Li Y, Zhang Z, Kang H, Zhang L, Zhang Y, Zhou L. | 01/18/2020 |
| c.974dupG in the BSCL2 gene may be a variant with a role in Celia's encephalopathy | Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D., Free PMC Article | 01/11/2020 |
| promethin is indeed an lipid droplet-associated protein that forms a complex with seipin. | Promethin Is a Conserved Seipin Partner Protein.
Castro IG, Eisenberg-Bord M, Persiani E, Rochford JJ, Schuldiner M, Bohnert M., Free PMC Article | 11/30/2019 |
| this is the first time that BSCL2 transcript expression is mapped in the different regions of human brain. Hypothesize that seipin has specific CNS functions and may play a role in peroxisome biogenesis. | Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies.
Sánchez-Iglesias S, Fernández-Liste A, Guillín-Amarelle C, Rábano A, Rodriguez-Cañete L, González-Méndez B, Fernández-Pombo A, Senra A, Araújo-Vilar D. | 04/6/2019 |
| In all patients of Congenital generalized lipodystrophy (CGL), molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. The findings highlight the uniqueness of the genotype and phenotype in this cohort. | Congenital generalized lipodystrophy in Taiwan.
Hsu RH, Lin WD, Chao MC, Hsiao HP, Wong SL, Chiu PC, Chu SY, Ke YY, Lau BH, Chien YH, Hwu WL, Tsai FJ, Wang CH, Lee NC. | 03/9/2019 |
| SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. | Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Zhao X, Jiang MM, Yan YZ, Liu L, Xie YZ, Li XB, Hu ZM, Zi XH, Xia K, Tang BS, Zhang RX., Free PMC Article | 08/18/2018 |
| In this Chinese Han population the novel Charcot-Marie-Tooth disease-associated gene mutations BSCL2 was discovered. | Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
Sun B, Chen Z, Ling L, Yang F, Huang X. | 02/24/2018 |
| Mutation in BSCL2 gene is associated with Type 2 congenital generalized lipodystrophy. | Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R, Yuan X, Wang J, Zhang Y. | 12/16/2017 |
| These data identify SEIPIN as an evolutionarily conserved regulator of microsomal GPAT. | 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., Free PMC Article | 11/26/2017 |