{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:41:40Z","timestamp":1787856100739,"version":"build-2784847793"},"reference-count":75,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Nature Science Foundation of China","doi-asserted-by":"crossref","award":["82473509 and 82073422"],"award-info":[{"award-number":["82473509 and 82073422"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Funct Integr Genomics"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s10142-025-01694-y","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T01:24:15Z","timestamp":1756430655000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disorders"],"prefix":"10.1007","volume":"25","author":[{"given":"Haisheng","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuying","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anqi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"1694_CR1","first-page":"5498109","volume":"2022","author":"M Alotaibi","year":"2022","unstructured":"Alotaibi M, Aldossari A, Khan I, Alotaibi L (2022) I Case Rep Pediatr 2022:5498109","journal-title":"I Case Rep Pediatr"},{"key":"1694_CR2","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1089\/ars.2007.1796","volume":"9","author":"D Bailey","year":"2007","unstructured":"Bailey D, O\u2019Hare P (2007) Transmembrane bZIP transcription factors in ER stress signaling and the unfolded protein response. Antioxid Redox Signal 9:2305\u20132321","journal-title":"Antioxid Redox Signal"},{"issue":"1","key":"1694_CR3","doi-asserted-by":"crossref","DOI":"10.1186\/s12967-021-02779-5","volume":"19","author":"N Caengprasath","year":"2021","unstructured":"Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V (2021) MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. J Transl Med 19(1):114","journal-title":"J Transl Med"},{"key":"1694_CR4","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1002\/ajmg.a.61614","volume":"182","author":"DR Carvalho","year":"2020","unstructured":"Carvalho DR, Speck-Martins CE, Brum JM, Ferreira CR, Sobreira NLM (2020) Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. Am J Med Genet A 182:1796\u20131800","journal-title":"Am J Med Genet A"},{"key":"1694_CR5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/2045-3701-1-6","volume":"1","author":"CP Chan","year":"2011","unstructured":"Chan CP, Kok KH, Jin DY (2011) CREB3 subfamily transcription factors are not created equal: recent insights from global analyses and animal models. Cell Biosci 1:6","journal-title":"Cell Biosci"},{"key":"1694_CR6","doi-asserted-by":"crossref","first-page":"1068718","DOI":"10.3389\/fped.2023.1068718","volume":"11","author":"C Chen","year":"2023","unstructured":"Chen C, Wu J, Liu Y, Case, Report (2023) Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type. Front Pediatr 11:1068718","journal-title":"Front Pediatr"},{"key":"1694_CR7","volume":"14","author":"F Chen","year":"2022","unstructured":"Chen F, Ni C, Wang X, Cheng R, Pan C, Wang Y, Liang J, Zhang J, Cheng J, Chin YE, Zhou Y, Wang Z, Guo Y, Chen S, Htun S, Mathes EF, de Alba Campomanes AG, Slavotinek AM, Zhang S, Li M, Yao Z (2022) S1p defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Mol Med 14:e14904","journal-title":"EMBO Mol Med"},{"key":"1694_CR8","first-page":"27","volume":"38","author":"C Cheng","year":"2018","unstructured":"Cheng C, Geng F, Cheng X, Guo D (2018) Lipid metabolism reprogramming and itspotential targets in cancer. Cancer Commun (Lond) 38:27","journal-title":"Cancer Commun (Lond)"},{"key":"1694_CR9","doi-asserted-by":"crossref","first-page":"22805","DOI":"10.1074\/jbc.274.32.22805","volume":"274","author":"D Cheng","year":"1999","unstructured":"Cheng D, Espenshade PJ, Slaughter CA, Jaen JC, Brown MS, Goldstein JL (1999) Secreted site-1 protease cleaves peptides corresponding to luminal loop of sterol regulatory element-binding proteins. J Biol Chem 274:22805\u201322812","journal-title":"J Biol Chem"},{"key":"1694_CR10","doi-asserted-by":"crossref","first-page":"13045","DOI":"10.1074\/jbc.M110636200","volume":"277","author":"X Chen","year":"2002","unstructured":"Chen X, Shen J, Prywes R (2002) The luminal domain of ATF6 senses endoplasmic reticulum (ER) stress and causes translocation of ATF6 from the ER to the golgi. J Biol Chem 277:13045\u201313052","journal-title":"J Biol Chem"},{"key":"1694_CR11","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.cca.2006.03.029","volume":"372","author":"G Civallero","year":"2006","unstructured":"Civallero G, Michelin K, de Mari J, Viapiana M, Burin M, Coelho JC, Giugliani R (2006) Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta 372:98\u2013102","journal-title":"Clin Chim Acta"},{"key":"1694_CR12","doi-asserted-by":"crossref","first-page":"3435","DOI":"10.1093\/hmg\/dds175","volume":"21","author":"N Cornelius","year":"2012","unstructured":"Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK (2012) Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet 21:3435\u20133448","journal-title":"Hum Mol Genet"},{"key":"1694_CR13","volume":"1869","author":"T Danyukova","year":"2022","unstructured":"Danyukova T, Sch\u00f6neck K, Pohl S (2022) Site-1 and site-2 proteases: a team of two in regulated proteolysis. Biochimica et Biophysica Acta (BBA) 1869:119138","journal-title":"Biochimica et Biophysica Acta (BBA)"},{"issue":"1","key":"1694_CR14","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s10142-025-01579-0","volume":"25","author":"AAMA El-Sehrawy","year":"2025","unstructured":"El-Sehrawy AAMA, Rashid TA, Ullah MI, Uthirapathy S, Ganesan S, Singh A (2025) Cutting edge: ferroptosis in metabolic dysfunction-associated steatotic liver disease (MASLD) pathogenesis and therapy. Funct Integr Genomics 25(1):71","journal-title":"Funct Integr Genomics"},{"key":"1694_CR15","doi-asserted-by":"crossref","first-page":"22795","DOI":"10.1074\/jbc.274.32.22795","volume":"274","author":"PJ Espenshade","year":"1999","unstructured":"Espenshade PJ, Cheng D, Goldstein JL, Brown MS (1999) Autocatalytic processing of site-1 protease removes propeptide and permits cleavage of sterol regulatory element-binding proteins. J Biol Chem 274:22795\u201322804","journal-title":"J Biol Chem"},{"key":"1694_CR16","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/s11515-014-1338-7","volume":"10","author":"RM Fox","year":"2015","unstructured":"Fox RM, Andrew DJ (2015) Transcriptional regulation of secretory capacity by bzip transcription factors. Front Biol Beijing 10:28\u201351","journal-title":"Front Biol Beijing"},{"key":"1694_CR17","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.cell.2015.01.036","volume":"161","author":"JL Goldstein","year":"2015","unstructured":"Goldstein JL, Brown MS (2015) A century of cholesterol and coronaries: from plaques to genes to statins. Cell 161:161\u2013172","journal-title":"Cell"},{"key":"1694_CR18","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.cell.2005.12.022","volume":"124","author":"JL Goldstein","year":"2006","unstructured":"Goldstein JL, DeBose-Boyd RA, Brown MS (2006) Protein sensors for membrane sterols. Cell 124:35\u201346","journal-title":"Cell"},{"key":"1694_CR19","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1651-2227.1986.tb10272.x","volume":"75","author":"N Gregersen","year":"1986","unstructured":"Gregersen N, Christensen MF, Christensen E, K\u00f8lvraa S (1986) Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. Acta Paediatr Scand 75:676\u2013681","journal-title":"Acta Paediatr Scand"},{"key":"1694_CR20","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2022.1004014","volume":"12","author":"LH Hartal-Benishay","year":"2022","unstructured":"Hartal-Benishay LH, Saadi E, Toubiana S et al (2022) MBTPS1 regulates proliferation of colorectal cancer primarily through its action on sterol regulatory element-binding proteins. Front Oncol 12:1004014","journal-title":"Front Oncol"},{"key":"1694_CR21","doi-asserted-by":"crossref","first-page":"3787","DOI":"10.1091\/mbc.10.11.3787","volume":"10","author":"K Haze","year":"1999","unstructured":"Haze K, Yoshida H, Yanagi H, Yura T, Mori K (1999) Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress. Mol Biol Cell 10:3787\u20133799","journal-title":"Mol Biol Cell"},{"issue":"1","key":"1694_CR22","volume":"15","author":"S Hendrix","year":"2024","unstructured":"Hendrix S, Dartigue V, Hall H, Bawaria S, Kingma J, Bajaj B, Zelcer N, Kober DL (2024) Spring licenses S1P-mediated cleavage of SREBP2 by displacing an inhibitory pro-domain. Nat Commun 15(1):5732","journal-title":"Nat Commun"},{"key":"1694_CR23","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1172\/JCI0215593","volume":"109","author":"JD Horton","year":"2002","unstructured":"Horton JD, Goldstein JL, Brown MS (2002) SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J Clin Invest 109:1125\u20131131","journal-title":"J Clin Invest"},{"key":"1694_CR24","doi-asserted-by":"crossref","first-page":"12027","DOI":"10.1073\/pnas.1534923100","volume":"100","author":"JD Horton","year":"2003","unstructured":"Horton JD, Shah NA, Warrington JA, Anderson NN, Park SW, Brown MS, Goldstein JL (2003) Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes. Proc Natl Acad Sci U S A 100:12027\u201312032","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1694_CR25","doi-asserted-by":"crossref","first-page":"11603","DOI":"10.1073\/pnas.90.24.11603","volume":"90","author":"X Hua","year":"1993","unstructured":"Hua X, Yokoyama C, Wu J, Briggs MR, Brown MS, Goldstein JL, Wang X (1993) SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci U S A 90:11603\u201311607","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1694_CR26","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/0888-7543(95)80009-B","volume":"25","author":"X Hua","year":"1995","unstructured":"Hua X, Wu J, Goldstein JL, Brown MS, Hobbs HH (1995) Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics 25:667\u2013673","journal-title":"Genomics"},{"key":"1694_CR27","doi-asserted-by":"crossref","first-page":"10379","DOI":"10.1074\/jbc.271.17.10379","volume":"271","author":"X Hua","year":"1996","unstructured":"Hua X, Sakai J, Brown MS, Goldstein JL (1996) Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. J Biol Chem 271:10379\u201310384","journal-title":"J Biol Chem"},{"issue":"1","key":"1694_CR28","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.cell.2018.08.020","volume":"175","author":"JY Kim","year":"2018","unstructured":"Kim JY, Garcia-Carbonell R, Yamachika S, Zhao P, Dhar D, Loomba R, Kaufman RJ, Saltiel AR, Karin M (2018) ER stress drives lipogenesis and steatohepatitis via Caspase-2 activation of S1P. Cell 175(1):133\u2013145e15","journal-title":"Cell"},{"key":"1694_CR29","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/iub.433","volume":"63","author":"S Kondo","year":"2011","unstructured":"Kondo S, Saito A, Asada R, Kanemoto S, Imaizumi K (2011) Physiological unfolded protein response regulated by OASIS family members, transmembrane bZIP transcription factors. IUBMB Life 63:233\u2013239","journal-title":"IUBMB Life"},{"key":"1694_CR30","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.121596","volume":"3","author":"Y Kondo","year":"2018","unstructured":"Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L (2018) Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight 3:e121596","journal-title":"JCI Insight"},{"issue":"5","key":"1694_CR31","volume":"10","author":"Y Lei","year":"2024","unstructured":"Lei Y, Yu H, Ding S, Liu H, Liu C, Fu R (2024) Molecular mechanism of ATF6 in unfolded protein response and its role in disease. Heliyon 10(5):e25937","journal-title":"Heliyon"},{"key":"1694_CR32","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63499","volume":"194","author":"K Liaqat","year":"2024","unstructured":"Liaqat K, Treat K, Mantcheva L, Nasir A, Weaver DD, Conboy E, Vetrini F (2024) A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: genotype-phenotype expansion and the emergence of a novel syndrome. Am J Med Genet A 194:e63499","journal-title":"Am J Med Genet A"},{"key":"1694_CR33","doi-asserted-by":"crossref","first-page":"2820","DOI":"10.1093\/brain\/awx231","volume":"140","author":"A Manole","year":"2017","unstructured":"Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Louren\u00e7o CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 140:2820\u20132837","journal-title":"Brain"},{"issue":"1","key":"1694_CR34","volume":"25","author":"RM Mansour","year":"2025","unstructured":"Mansour RM, Abdel Mageed SS, Abulsoud AI, Sayed GA, Lutfy RH, Awad FA (2025) From fatty liver to fibrosis: the impact of miRNAs on NAFLD and NASH. Funct Integr Genomics 25(1):30","journal-title":"Funct Integr Genomics"},{"key":"1694_CR35","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1126\/science.1205677","volume":"333","author":"K Marschner","year":"2011","unstructured":"Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S (2011) A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. Science 333:87\u201390","journal-title":"Science"},{"key":"1694_CR36","volume":"23","author":"LJ Martin","year":"2022","unstructured":"Martin LJ, Nguyen HT (2022) Basic leucine zipper transcription factors as important regulators of Leydig cells\u2019 functions. Int J Mol Sci 23:12887","journal-title":"Int J Mol Sci"},{"key":"1694_CR37","doi-asserted-by":"crossref","first-page":"2727","DOI":"10.1002\/ajmg.a.61833","volume":"182","author":"R Meyer","year":"2020","unstructured":"Meyer R, Elbracht M, Opladen T, Eggermann T (2020) Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome. Am J Med Genet A 182:2727\u20132730","journal-title":"Am J Med Genet A"},{"key":"1694_CR38","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jpeds.2017.04.018","volume":"187","author":"R Meyer","year":"2017","unstructured":"Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T (2017) Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management. J Pediatr 187:206\u2013212","journal-title":"J Pediatr"},{"key":"1694_CR39","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1080\/10409238.2021.1908952","volume":"56","author":"S Missaglia","year":"2021","unstructured":"Missaglia S, Tavian D, Angelini C (2021) ETF dehydrogenase advances in molecular genetics and impact on treatment. Crit Rev Biochem Mol Biol 56:360\u2013372","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"1694_CR40","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.regpep.2004.02.022","volume":"120","author":"R Mouchantaf","year":"2004","unstructured":"Mouchantaf R, Watt HL, Sulea T, Seidah NG, Alturaihi H, Patel YC et al (2004) Prosomatostatin is proteolytically processed at the amino terminal segment by subtilase SKI-1. Regul Pept 120:133\u2013140","journal-title":"Regul Pept"},{"key":"1694_CR41","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s100380070029","volume":"45","author":"T Nakajima","year":"2000","unstructured":"Nakajima T, Iwaki K, Kodama T, Inazawa J, Emi M (2000) Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene. J Hum Genet 45:212\u2013217","journal-title":"J Hum Genet"},{"key":"1694_CR42","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0092-8674(00)00037-4","volume":"102","author":"A Nohturfft","year":"2000","unstructured":"Nohturfft A, Yabe D, Goldstein JL, Brown MS, Espenshade PJ (2000) Regulated step in cholesterol feedback localized to budding of SCAP from ER membranes. Cell 102:315\u2013323","journal-title":"Cell"},{"key":"1694_CR43","doi-asserted-by":"crossref","DOI":"10.1016\/j.redox.2020.101674","volume":"37","author":"D Nolfi-Donegan","year":"2020","unstructured":"Nolfi-Donegan D, Braganza A, Shiva S (2020) Mitochondrial electron transport chain: oxidative phosphorylation, oxidant production, and methods of measurement. Redox Biol 37:101674","journal-title":"Redox Biol"},{"key":"1694_CR44","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3390\/diagnostics14030313","volume":"14","author":"V Raggio","year":"2024","unstructured":"Raggio V, Rodr\u00edguez S, Feder S, Gue\u00e7aimbur\u00fa R, Spangenberg L (2024) Exome sequencing reveals biallelic mutations in MBTPS1 gene in a Girl with a very rare skeletal dysplasia. Diagnostics (Basel) 14:313","journal-title":"Diagnostics (Basel)"},{"key":"1694_CR45","doi-asserted-by":"crossref","first-page":"5639","DOI":"10.1128\/MCB.22.16.5639-5649.2002","volume":"22","author":"C Raggo","year":"2002","unstructured":"Raggo C, Rapin N, Stirling J, Gobeil P, Smith-Windsor E, O\u2019Hare P et al (2002) Luman, the cellular counterpart of herpes simplex virus VP16, is processed by regulated intramembrane proteolysis. Mol Cell Biol 22:5639\u20135649","journal-title":"Mol Cell Biol"},{"issue":"6","key":"1694_CR46","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/j.jhep.2023.06.003","volume":"79","author":"ME Rinella","year":"2023","unstructured":"Rinella ME, Lazarus JV, Ratziu V, Francque SM, Sanyal AJ, Kanwal F (2023) A multisociety Delphi consensus statement on new fatty liver disease nomenclature. J Hepatol 79(6):1542\u20131556","journal-title":"J Hepatol"},{"key":"1694_CR47","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/S1097-2765(00)80150-1","volume":"2","author":"J Sakai","year":"1998","unstructured":"Sakai J, Rawson RB, Espenshade PJ, Cheng D, Seegmiller AC, Goldstein JL, Brown MS (1998a) Molecular identification of the sterol-regulated luminal protease that cleaves SREBPs and controls lipid composition of animal cells. Mol Cell 2:505\u2013514","journal-title":"Mol Cell"},{"key":"1694_CR48","doi-asserted-by":"crossref","first-page":"5785","DOI":"10.1074\/jbc.273.10.5785","volume":"273","author":"J Sakai","year":"1998","unstructured":"Sakai J, Nohturfft A, Goldstein JL, Brown MS (1998b) Cleavage of sterol regulatory element-binding proteins (SREBPs) at site-1 requires interaction with SREBP cleavage-activating protein. Evidence from in vivo competition studies. J Biol Chem 273:5785\u20135793","journal-title":"J Biol Chem"},{"key":"1694_CR49","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2019.00123","volume":"7","author":"L Sampieri","year":"2019","unstructured":"Sampieri L, Di Giusto P, Alvarez C (2019) CREB3 transcription factors: ER-golgi stress transducers as hubs for cellular homeostasis. Front Cell Dev Biol 7:123","journal-title":"Front Cell Dev Biol"},{"key":"1694_CR50","doi-asserted-by":"crossref","unstructured":"Schweitzer GG, Gan C, Bucelli RC, Wegner D, Schmidt RE, Shinawi M, Finck BN, Brookheart RT (2019) A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Mol Genet Genomic Med 7(7):e00733","DOI":"10.1002\/mgg3.733"},{"key":"1694_CR51","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1073\/pnas.96.4.1321","volume":"96","author":"NG Seidah","year":"1999","unstructured":"Seidah NG, Mowla SJ, Hamelin J et al (1999) Mammalian subtilisin\/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. Proc Natl Acad Sci U S A 96:1321\u20131326","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1694_CR52","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nrd3699","volume":"11","author":"NG Seidah","year":"2012","unstructured":"Seidah NG, Prat A (2012) The biology and therapeutic targeting of the proprotein convertases. Nat Rev Drug Discov 11:367\u2013383","journal-title":"Nat Rev Drug Discov"},{"key":"1694_CR53","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1111\/j.1939-165x.2012.00485.x","volume":"41","author":"AC Sewell","year":"2012","unstructured":"Sewell AC, Haskins ME, Giger U (2012) Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol 41:548\u2013557","journal-title":"Vet Clin Pathol"},{"key":"1694_CR54","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1172\/JCI119248","volume":"99","author":"H Shimano","year":"1997","unstructured":"Shimano H, Horton JD, Shimomura I, Hammer RE, Brown MS, Goldstein JL (1997) Isoform 1c of sterol regulatory element binding protein is less active than isoform 1a in livers of transgenic mice and in cultured cells. J Clin Invest 99:846\u2013854","journal-title":"J Clin Invest"},{"key":"1694_CR55","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1172\/JCI119247","volume":"99","author":"I Shimomura","year":"1997","unstructured":"Shimomura I, Shimano H, Horton JD, Goldstein JL, Brown MS (1997) Differential expression of exons 1a and 1c in mrnas for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells. J Clin Invest 99:838\u2013845","journal-title":"J Clin Invest"},{"key":"1694_CR56","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1038\/s41366-022-01128-w","volume":"46","author":"BS Smith","year":"2022","unstructured":"Smith BS, Diaguarachchige De Silva KH, Hashemi A, Duncan RE, Grapentine S, Bakovic M, Lu R (2022) Transcription factor CREB3 is a potent regulator of high-fat diet-induced obesity and energy metabolism. Int J Obes (Lond) 46:1446\u20131455","journal-title":"Int J Obes (Lond)"},{"key":"1694_CR57","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.mito.2023.01.001","volume":"69","author":"BS Smith","year":"2023","unstructured":"Smith BS, Hewitt T, Bakovic M, Lu R (2023) ER stress-associated transcription factor CREB3 is essential for normal Ca2+, ATP, and ROS homeostasis. Mitochondrion 69:10\u201317","journal-title":"Mitochondrion"},{"key":"1694_CR58","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1091\/mbc.e05-06-0500","volume":"17","author":"J Stirling","year":"2006","unstructured":"Stirling J, O\u2019Hare P (2006) CREB4, a transmembrane bzip transcription factor and potential new substrate for regulation and cleavage by S1P. Mol Biol Cell 17:413\u2013426","journal-title":"Mol Biol Cell"},{"key":"1694_CR59","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.cmet.2005.04.010","volume":"1","author":"A Sundqvist","year":"2005","unstructured":"Sundqvist A, Bengoechea-Alonso MT, Ye X, Lukiyanchuk V, Jin J, Harper JW, Ericsson J (2005) Control of lipid metabolism by phosphorylation-dependent degradation of the SREBP family of transcription factors by SCF(Fbw7). Cell Metab 1:379\u2013391","journal-title":"Cell Metab"},{"key":"1694_CR60","doi-asserted-by":"crossref","first-page":"6519","DOI":"10.1073\/pnas.0700907104","volume":"104","author":"LP Sun","year":"2007","unstructured":"Sun LP, Seemann J, Goldstein JL, Brown MS (2007) Sterol-regulated transport of SREBPs from endoplasmic reticulum to golgi: Insig renders sorting signal in Scap inaccessible to COPII proteins. Proc Natl Acad Sci U S A 104:6519\u20136526","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"1694_CR61","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/s10142-025-01587-0","volume":"25","author":"Y Sun","year":"2025","unstructured":"Sun Y, Shan X, Li M, Niu Y, Sun Z, Ma X (2025) Autoimmune mechanisms and inflammation in obesity-associated type 2 diabetes, atherosclerosis, and non-alcoholic fatty liver disease. Funct Integr Genomics 25(1):84","journal-title":"Funct Integr Genomics"},{"key":"1694_CR62","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/humu.23382","volume":"39","author":"Z T\u00fcmer","year":"2018","unstructured":"T\u00fcmer Z, L\u00f3pez-Hern\u00e1ndez JA, Netchine I, Elbracht M, Gr\u00f8nskov K, Gede LB, Sachwitz J, den Dunnen JT, Eggermann T (2018) Structural and sequence variants in patients with Silver-Russell syndrome or similar features-curation of a disease database. Hum Mutat 39:345\u2013364","journal-title":"Hum Mutat"},{"key":"1694_CR63","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1074\/jbc.275.4.2349","volume":"275","author":"BB Toure","year":"2000","unstructured":"Toure BB, Munzer JS, Basak A, Benjannet S, Rochemont J, Lazure C et al (2000) Biosynthesis and enzymatic characterization of human SKI-1\/S1P and the processing of its inhibitory prosegment. J Biol Chem 275:2349\u20132358","journal-title":"J Biol Chem"},{"key":"1694_CR64","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1016\/j.bbamcr.2017.06.023","volume":"1864","author":"RV Velho","year":"2017","unstructured":"Velho RV, De Pace R, Kl\u00fcnder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S (2017) Site-1 protease and lysosomal homeostasis. Biochimica et Biophysica Acta (BBA) 1864:2162\u20132168","journal-title":"Biochimica et Biophysica Acta (BBA)"},{"key":"1694_CR65","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.bbaexp.2005.12.005","volume":"1759","author":"C Vinson","year":"2006","unstructured":"Vinson C, Acharya A, Taparowsky EJ (2006) Deciphering b-ZIP transcription factor interactions in vitro and in vivo. Biochim Biophys Acta 1759:4\u201312","journal-title":"Biochim Biophys Acta"},{"key":"1694_CR66","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nrendo.2016.138","volume":"13","author":"EL Wakeling","year":"2017","unstructured":"Wakeling EL, Brioude F, Lokulo-Sodipe O, O\u2019Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Gr\u00f8nskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, T\u00fcmer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I (2017) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 13:105\u2013124","journal-title":"Nat Rev Endocrinol"},{"key":"1694_CR67","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0092-8674(94)90234-8","volume":"77","author":"X Wang","year":"1994","unstructured":"Wang X, Sato R, Brown MS, Hua X, Goldstein JL (1994) SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell 77:53\u201362","journal-title":"Cell"},{"key":"1694_CR68","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1136\/jnnp.2009.176404","volume":"81","author":"B Wen","year":"2010","unstructured":"Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C (2010) Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry 81:231\u2013236","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1694_CR69","volume":"15","author":"X Xu","year":"2024","unstructured":"Xu X, Jin W, Chang R, Ding X (2024) Research progress of SREBP and its role in the pathogenesis of autoimmune rheumatic diseases. Front Immunol 15:1398921","journal-title":"Front Immunol"},{"key":"1694_CR70","doi-asserted-by":"crossref","first-page":"12753","DOI":"10.1073\/pnas.162488899","volume":"99","author":"D Yabe","year":"2002","unstructured":"Yabe D, Brown MS, Goldstein JL (2002) Insig-2, a second endoplasmic reticulum protein that binds SCAP and blocks export of sterol regulatory element-binding proteins. Proc Natl Acad Sci U S A 99:12753\u201312758","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1694_CR71","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S0092-8674(02)00872-3","volume":"110","author":"T Yang","year":"2002","unstructured":"Yang T, Espenshade PJ, Wright ME, Yabe D, Gong Y, Aebersold R, Goldstein JL, Brown MS (2002) Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. Cell 110:489\u2013500","journal-title":"Cell"},{"key":"1694_CR72","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1016\/S1097-2765(00)00133-7","volume":"6","author":"J Ye","year":"2000","unstructured":"Ye J, Rawson RB, Komuro R, Chen X, Dave UP, Prywes R et al (2000) Er stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell 6:1355\u20131364","journal-title":"Mol Cell"},{"key":"1694_CR73","doi-asserted-by":"crossref","first-page":"33741","DOI":"10.1074\/jbc.273.50.33741","volume":"273","author":"H Yoshida","year":"1998","unstructured":"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. J Biol Chem 273:33741\u201333749","journal-title":"J Biol Chem"},{"key":"1694_CR74","volume":"10","author":"Y Yuan","year":"2023","unstructured":"Yuan Y, Zhou Q, Wang C, Zhou W, Gu W, Zheng B (2023) Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: evidence of pathogenicity for a synonymous variant. Front Pediatr 10:1056141","journal-title":"Front Pediatr"},{"key":"1694_CR75","doi-asserted-by":"crossref","DOI":"10.1016\/j.biopha.2023.115335","volume":"166","author":"W Yuxiong","year":"2023","unstructured":"Yuxiong W, Faping L, Bin L, Yanghe Z, Yao L, Yunkuo L, Yishu W, Honglan Z (2023) Regulatory mechanisms of the cAMP-responsive element binding protein 3 (CREB3) family in cancers. Biomed Pharmacother 166:115335","journal-title":"Biomed Pharmacother"}],"container-title":["Functional &amp; Integrative Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10142-025-01694-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10142-025-01694-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10142-025-01694-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:11:13Z","timestamp":1769155873000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10142-025-01694-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,29]]},"references-count":75,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["1694"],"URL":"https:\/\/doi.org\/10.1007\/s10142-025-01694-y","relation":{},"ISSN":["1438-793X","1438-7948"],"issn-type":[{"value":"1438-793X","type":"print"},{"value":"1438-7948","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,29]]},"assertion":[{"value":"20 June 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 August 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 August 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"178"}}