Abrenica B, Gilchrist JS. 2000. Nucleoplasmic Ca (2+) loading is regulated by mobilization of perinuclear Ca (2+). Cell Calcium 28:127–136. DOI: https://doi.org/10.1054/ceca.2000.0137, PMID: 10970769
Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A. 2002. Agpat2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nature Genetics 31:21–23. DOI: https://doi.org/10.1038/ng880, PMID: 11967537
Bi J, Wang W, Liu Z, Huang X, Jiang Q, Liu G, Wang Y, Huang X. 2014. Seipin promotes adipose tissue fat storage through the ER Ca2+-ATPase SERCA. Cell Metabolism 19:861–871. DOI: https://doi.org/10.1016/j. cmet.2014.03.028, PMID: 24807223
Cartwright BR, Goodman JM. 2012. Seipin: from human disease to molecular mechanism. Journal of Lipid Research 53:1042–1055. DOI: https://doi.org/10.1194/jlr.R023754, PMID: 22474068
Chen T-W, Wardill TJ, Sun Y, Pulver SR, Renninger SL, Baohan A, Schreiter ER, Kerr RA, Orger MB, Jayaraman V, Looger LL, Svoboda K, Kim DS. 2013. Ultrasensitive fluorescent proteins for imaging neuronal activity. Nature 499:295–300. DOI: https://doi.org/10.1038/nature12354, PMID: 23868258
Cornea RL, Gruber SJ, Lockamy EL, Muretta JM, Jin D, Chen J, Dahl R, Bartfai T, Zsebo KM, Gillispie GD, Thomas DD. 2013. High-Throughput FRET assay yields allosteric SERCA activators. Journal of Biomolecular Screening 18:97–107. DOI: https://doi.org/10.1177/1087057112456878, PMID: 22923787
Cranfill PJ, Sell BR, Baird MA, Allen JR, Lavagnino Z, de Gruiter HM, Kremers G-J, Davidson MW, Ustione A, Piston DW. 2016. Quantitative assessment of fluorescent proteins. Nature Methods 13:557–562. DOI: https:// doi.org/10.1038/nmeth.3891, PMID: 27240257
Cruzblanca H, Koh DS, Hille B. 1998. Bradykinin inhibits M current via phospholipase C and ca2+ release from IP3-sensitive ca2+ stores in rat sympathetic neurons. PNAS 95:7151–7156. DOI: https://doi.org/10.1073/pnas. 95.12.7151, PMID: 9618554
Cui X, Wang Y, Tang Y, Liu Y, Zhao L, Deng J, Xu G, Peng X, Ju S, Liu G, Yang H. 2011. Seipin ablation in mice results in severe generalized lipodystrophy. Human Molecular Genetics 20:3022–3030. DOI: https://doi.org/10. 1093/hmg/ddr205, PMID: 21551454
Dally S, Bredoux R, Corvazier E, Andersen JP, Clausen JD, Dode L, Fanchaouy M, Gelebart P, Monceau V, Del Monte F, Gwathmey JK, Hajjar R, Chaabane C, Bobe R, Raies A, Enouf J. 2006. Ca2+-Atpases in non-failing and failing heart: evidence for a novel cardiac sarco/endoplasmic reticulum Ca2+-ATPase 2 isoform (SERCA2c). The Biochemical Journal 395:249–258. DOI: https://doi.org/10.1042/BJ20051427, PMID: 16402920
Feles S, Overath C, Reichardt S, Diegeler S, Schmitz C, Kronenberg J, Baumstark-Khan C, Hemmersbach R, Hellweg CE, Liemersdorf C. 2022. Streamlining culture conditions for the neuroblastoma cell line SH-SY5Y: a prerequisite for functional studies. Methods and Protocols 5:58. DOI: https://doi.org/10.3390/mps5040058, PMID: 35893584
Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O’Rahilly S, Taylor SI, Patel SB, Bowcock AM. 1999. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. The Journal of Clinical Endocrinology and Metabolism 84:3390–3394. DOI: https://doi.org/10.1210/jcem.84.9.6103, PMID: 10487716
Gélébart P, Martin V, Enouf J, Papp B. 2003. Identification of a new SERCA2 splice variant regulated during monocytic differentiation. Biochemical and Biophysical Research Communications 303:676–684. DOI: https:// doi.org/10.1016/s0006-291x(03)00405-4, PMID: 12659872
George G, Ninagawa S, Yagi H, Furukawa J-I, Hashii N, Ishii-Watabe A, Deng Y, Matsushita K, Ishikawa T, Mamahit YP, Maki Y, Kajihara Y, Kato K, Okada T, Mori K. 2021. Purified EDEM3 or EDEM1 alone produces determinant oligosaccharide structures from m8b in mammalian glycoprotein ERAD. eLife 10:e70357. DOI: https://doi.org/10.7554/eLife.70357, PMID: 34698634
Gruber SJ, Cornea RL, Li J, Peterson KC, Schaaf TM, Gillispie GD, Dahl R, Zsebo KM, Robia SL, Thomas DD. 2014. Discovery of enzyme modulators via high-throughput time-resolved FRET in living cells. Journal of Biomolecular Screening 19:215–222. DOI: https://doi.org/10.1177/1087057113510740, PMID: 24436077
GTEx Consortium. 2015. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science 348:648–660. DOI: https://doi.org/10.1126/science.1262110, PMID: 25954001
Ito D, Suzuki N. 2007. Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Annals of Neurology 61:237–250. DOI: https://doi.org/10.1002/ana.21070, PMID: 17387721
Ito D, Suzuki N. 2009. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132:8–15. DOI: https://doi.org/10.1093/brain/awn216, PMID: 18790819
Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, et al. 2014. Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1. Cell Stem Cell 14:781–795. DOI: https://doi.org/10.1016/j.stem.2014.03.004, PMID: 24704492
Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson I. 2006. Membrane topology of the human seipin protein. FEBS Letters 580:2281–2284. DOI: https://doi.org/10.1016/j.febslet. 2006.03.040, PMID: 16574104
Lytton J, Westlin M, Hanley MR. 1991. Thapsigargin inhibits the sarcoplasmic or endoplasmic reticulum Ca-ATPase family of calcium pumps. The Journal of Biological Chemistry 266:17067–17071. DOI: https://doi. org/10.1016/S0021-9258(19)47340-7, PMID: 1832668
Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d’Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, et al. 2001. Identification of the gene altered in berardinelli-seip congenital lipodystrophy on chromosome 11q13. Nature Genetics 28:365–370. DOI: https://doi.org/10.1038/ng585, PMID: 11479539
Miyauchi Y, Daiho T, Yamasaki K, Takahashi H, Ishida-Yamamoto A, Danko S, Suzuki H, Iizuka H. 2006. Comprehensive analysis of expression and function of 51 sarco (endo) plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. The Journal of Biological Chemistry 281:22882–22895. DOI: https://doi.org/10. 1074/jbc.M601966200, PMID: 16766529
Ninagawa S, Okada T, Sumitomo Y, Kamiya Y, Kato K, Horimoto S, Ishikawa T, Takeda S, Sakuma T, Yamamoto T, Mori K. 2014. Edem2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step. The Journal of Cell Biology 206:347–356. DOI: https://doi.org/10.1083/jcb.201404075, PMID: 25092655
Paganoni S, Macklin EA, Hendrix S, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson T, Jackson CE, Quinn C, Rothstein JD, Kasarskis EJ, Katz J, Jenkins L, et al. 2020. Trial of sodium phenylbutyrate-taurursodiol for amyotrophic lateral sclerosis. The New England Journal of Medicine 383:919–930. DOI: https://doi.org/10.1056/NEJMoa1916945, PMID: 32877582
Paganoni S, Hendrix S, Dickson SP, Knowlton N, Macklin EA, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson TD, Jackson CE, Quinn C, Rothstein JD, Kasarskis EJ, et al. 2021. Long-Term survival of participants in the CENTAUR trial of sodium phenylbutyrate-taurursodiol in amyotrophic lateral sclerosis. Muscle & Nerve 63:31–39. DOI: https://doi.org/ 10.1002/mus.27091, PMID: 33063909
Papatheodorou I, Moreno P, Manning J, Fuentes AM-P, George N, Fexova S, Fonseca NA, Füllgrabe A, Green M, Huang N, Huerta L, Iqbal H, Jianu M, Mohammed S, Zhao L, Jarnuczak AF, Jupp S, Marioni J, Meyer K, Petryszak R, et al. 2020. Expression atlas update: from tissues to single cells. Nucleic Acids Research 48:D77–D83. DOI: https://doi.org/10.1093/nar/gkz947, PMID: 31665515
Preissler S, Rato C, Yan Y, Perera LA, Czako A, Ron D. 2020. Calcium depletion challenges endoplasmic reticulum proteostasis by destabilising bip-substrate complexes. eLife 9:e62601. DOI: https://doi.org/10.7554/ eLife.62601, PMID: 33295873
Roberts RF, Wade-Martins R, Alegre-Abarrategui J. 2015. Direct visualization of alpha-synuclein oligomers reveals previously undetected pathology in Parkinson’s disease brain. Brain 138:1642–1657. DOI: https://doi. org/10.1093/brain/awv040, PMID: 25732184
Roschke AV, Stover K, Tonon G, Schäffer AA, Kirsch IR. 2002. Stable karyotypes in epithelial cancer cell lines despite high rates of ongoing structural and numerical chromosomal instability. Neoplasia 4:19–31. DOI: https://doi.org/10.1038/sj.neo.7900197, PMID: 11922387
Sambrook EE, Fritsch J, Maniatis T. 1989. Molecular Cloning: A Laboratory Manual. New York: Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
Sim MFM, Talukder MMU, Dennis RJ, O’Rahilly S, Edwardson JM, Rochford JJ. 2013. Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms. Diabetologia 56:2498–2506. DOI: https://doi.org/10.1007/s00125-013-3029-3, PMID: 23989774
Sui X, Arlt H, Brock KP, Lai ZW, DiMaio F, Marks DS, Liao M, Farese RV, Walther TC. 2018. Cryo-electron microscopy structure of the lipid droplet-formation protein seipin. The Journal of Cell Biology 217:4080–4091. DOI: https://doi.org/10.1083/jcb.201809067, PMID: 30327422
Suzuki J, Kanemaru K, Ishii K, Ohkura M, Okubo Y, Iino M. 2014. Imaging intraorganellar ca2+ at subcellular resolution using CEPIA. Nature Communications 5:4153. DOI: https://doi.org/10.1038/ncomms5153, PMID: 24923787
Szymanski KM, Binns D, Bartz R, Grishin NV, Li WP, Agarwal AK, Garg A, Anderson RGW, Goodman JM. 2007. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. PNAS 104:20890–20895. DOI: https://doi.org/10.1073/pnas.0704154104, PMID: 18093937
Tian Y, Bi J, Shui G, Liu Z, Xiang Y, Liu Y, Wenk MR, Yang H, Huang X. 2011. Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation. PLOS Genetics 7:e1001364. DOI: https://doi. org/10.1371/journal.pgen.1001364, PMID: 21533227
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, et al. 2002. Genotype-Phenotype relationships in berardinelli-seip congenital lipodystrophy. Journal of Medical Genetics 39:722–733. DOI: https://doi.org/10.1136/jmg.39.10. 722, PMID: 12362029
Wainger BJ, Kiskinis E, Mellin C, Wiskow O, Han SSW, Sandoe J, Perez NP, Williams LA, Lee S, Boulting G, Berry JD, Brown RH Jr, Cudkowicz ME, Bean BP, Eggan K, Woolf CJ. 2014. Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons. Cell Reports 7:1–11. DOI: https://doi.org/10. 1016/j.celrep.2014.03.019, PMID: 24703839
Wang Y, Shen J, Arenzana N, Tirasophon W, Kaufman RJ, Prywes R. 2000. Activation of ATF6 and an ATF6 DNA binding site by the endoplasmic reticulum stress response. The Journal of Biological Chemistry 275:27013– 27020. DOI: https://doi.org/10.1074/jbc.M003322200, PMID: 10856300
Wang C-W, Miao Y-H, Chang Y-S. 2014. Control of lipid droplet size in budding yeast requires the collaboration between fld1 and ldb16. Journal of Cell Science 127:1214–1228. DOI: https://doi.org/10.1242/jcs.137737, PMID: 24434579
Wang H, Becuwe M, Housden BE, Chitraju C, Porras AJ, Graham MM, Liu XN, Thiam AR, Savage DB, Agarwal AK, Garg A, Olarte MJ, Lin Q, Fröhlich F, Hannibal-Bach HK, Upadhyayula S, Perrimon N, Kirchhausen T, Ejsing CS, Walther TC, et al. 2016. Seipin is required for converting nascent to mature lipid droplets. eLife 5:e16582. DOI: https://doi.org/10.7554/eLife.16582, PMID: 27564575
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. 2004. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and silver syndrome. Nature Genetics 36:271–276. DOI: https://doi.org/10.1038/ng1313, PMID: 14981520
Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N. 2011. N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. Human Molecular Genetics 20:3831–3840. DOI: https://doi.org/10.1093/hmg/ddr304, PMID: 21750110
Yan R, Qian H, Lukmantara I, Gao M, Du X, Yan N, Yang H. 2018. Human seipin binds anionic phospholipids. Developmental Cell 47:248–256.. DOI: https://doi.org/10.1016/j.devcel.2018.09.010, PMID: 30293840
Yoshida H, Haze K, Yanagi H, Yura T, Mori K. 1998. Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins involvement of basic leucine zipper transcription factors. The Journal of Biological Chemistry 273:33741– 33749. DOI: https://doi.org/10.1074/jbc.273.50.33741, PMID: 9837962
Yoshida H, Matsui T, Yamamoto A, Okada T, Mori K. 2001. Xbp1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor. Cell 107:881–891. DOI: https://doi.org/ 10.1016/s0092-8674(01)00611-0, PMID: 11779464
Yusuf M, Leung K, Morris KJ, Volpi EV. 2013. Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y. Neurogenetics 14:63–70. DOI: https://doi.org/10.1007/s10048-012-0350-9, PMID: 23224213
Zorzato F, Scutari E, Tegazzin V, Clementi E, Treves S. 1993. Chlorocresol: an activator of ryanodine receptor- mediated Ca2+ release. Molecular Pharmacology 44:1192–1201 PMID: 8264556
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