Alotaibi M, Aldossari A, Khan I, Alotaibi L (2022) I Case Rep Pediatr 2022:5498109

PubMed  Google Scholar 

Bailey D, O’Hare P (2007) Transmembrane bZIP transcription factors in ER stress signaling and the unfolded protein response. Antioxid Redox Signal 9:2305–2321

CAS  PubMed  Google Scholar 

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

CAS  PubMed  PubMed Central  Google Scholar 

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 182:1796–1800

CAS  PubMed  PubMed Central  Google Scholar 

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

PubMed  PubMed Central  Google Scholar 

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

PubMed  PubMed Central  Google Scholar 

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

CAS  PubMed  PubMed Central  Google Scholar 

Cheng C, Geng F, Cheng X, Guo D (2018) Lipid metabolism reprogramming and itspotential targets in cancer. Cancer Commun (Lond) 38:27

PubMed  Google Scholar 

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 274:22805–22812

CAS  PubMed  Google Scholar 

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 277:13045–13052

CAS  PubMed  Google Scholar 

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 372:98–102

CAS  PubMed  Google Scholar 

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 21:3435–3448

CAS  PubMed  Google Scholar 

Danyukova T, Schöneck K, Pohl S (2022) Site-1 and site-2 proteases: a team of two in regulated proteolysis. Biochimica et Biophysica Acta (BBA) 1869:119138

CAS  Google Scholar 

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

PubMed  Google Scholar 

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 274:22795–22804

CAS  PubMed  Google Scholar 

Fox RM, Andrew DJ (2015) Transcriptional regulation of secretory capacity by bzip transcription factors. Front Biol Beijing 10:28–51

CAS  PubMed  Google Scholar 

Goldstein JL, Brown MS (2015) A century of cholesterol and coronaries: from plaques to genes to statins. Cell 161:161–172

CAS  PubMed  PubMed Central  Google Scholar 

Goldstein JL, DeBose-Boyd RA, Brown MS (2006) Protein sensors for membrane sterols. Cell 124:35–46

CAS  PubMed  Google Scholar 

Gregersen N, Christensen MF, Christensen E, Kølvraa S (1986) Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. Acta Paediatr Scand 75:676–681

CAS  PubMed  Google Scholar 

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

CAS  PubMed  PubMed Central  Google Scholar 

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 10:3787–3799

CAS  PubMed  PubMed Central  Google Scholar 

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

CAS  PubMed  PubMed Central  Google Scholar 

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 109:1125–1131

CAS  PubMed  PubMed Central  Google Scholar 

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 100:12027–12032

CAS  PubMed  PubMed Central  Google Scholar 

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 90:11603–11607

CAS  PubMed  PubMed Central  Google Scholar 

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 25:667–673

CAS  PubMed  Google Scholar 

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 271:10379–10384

CAS  PubMed  Google Scholar 

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):133–145e15

CAS  PubMed  PubMed Central  Google Scholar 

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 63:233–239

CAS  PubMed  Google Scholar 

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

PubMed  PubMed Central  Google Scholar 

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

CAS  PubMed  PubMed Central  Google Scholar 

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

CAS  PubMed  Google Scholar 

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço 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 140:2820–2837

PubMed  PubMed Central  Google Scholar 

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

CAS  PubMed  Google Scholar 

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 333:87–90

CAS  PubMed