| 1 | LPCMD, ZMPSTE24
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| A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
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| Galant D, Gaborit B, Desgrouas C, Abdesselam I, Bernard M, Levy N, Merono F, Coirault C, Roll P, Lagarde A, Bonello-Palot N, Bourgeois P, Dutour A, Badens C.
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| Cells 5(2). pii: E21. doi: 10.3390/cells5020021.
2016
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| 2 | HGPSA, ZMPSTE24
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| A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
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| Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ.
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| J Cell Sci 129(10):1975-80. doi: 10.1242/jcs.187302. 2016
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| 3 | RDMP1, ZMPSTE24
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| Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
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| Matulevičienė A, Meškienė R, Morkūnienė A, Ambrozaitytė L, Meškauskas R, Garunkštienė R, Drazdienė N, Utkus A, Kučinskas V.
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| Clin Dysmorphol 25(1):7-11. doi: 10.1097/MCD.0000000000000100.
2016
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| 4 | ZMPSTE24
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| Mice that express farnesylated versions of prelamin A in neurons develop achalasia.
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| Yang SH, Procaccia S, Jung HJ, Nobumori C, Tatar A, Tu Y, Bayguinov YR, Hwang SJ, Tran D, Ward SM, Fong LG, Young SG.
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| Hum Mol Genet 24(10):2826-40. doi: 10.1093/hmg/ddv043.
2015
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| 5 | RDMP1, ZMPSTE24
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| New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
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| Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A.
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| Eur J Hum Genet 22(8):1002-11. doi: 10.1038/ejhg.2013.258.
2014
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| 6 | ZMPSTE24
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| The structural basis of ZMPSTE24-dependent laminopathies.
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| Quigley A, Dong YY, Pike AC, Dong L, Shrestha L, Berridge G, Stansfeld PJ, Sansom MS, Edwards AM, Bountra C, von Delft F, Bullock AN, Burgess-Brown NA, Carpenter EP.
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| Science 339(6127):1604-7. doi: 10.1126/science.1231513.
2013
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| 7 | HGPSA, ZMPSTE24
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| Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
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| Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S.
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| Hum Mol Genet 21(18):4084-93. doi: 10.1093/hmg/dds233.
2012
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| 8 | MADYS2, ZMPSTE24
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| Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
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| Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.
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| Eur J Hum Genet 19(6):647-54. Epub 2011 Jan 26.
2011
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| 9 | MADYS2, ZMPSTE24
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| Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
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| Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T.
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| Bone 47(3):591-7. doi: 10.1016/j.bone.2010.06.004.
2010
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| 10 | ZMPSTE24
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| Accelerated features of age-related bone loss in zmpste24 metalloproteinase-deficient mice.
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| Rivas D, Li W, Akter R, Henderson JE, Duque G.
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| J Gerontol A Biol Sci Med Sci 64(10):1015-24. Epub 2009 Jul 8.PMID: 19587107 2009
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| 11 | ZMPSTE24
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| A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
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| Chen M, Kuo HH, Huang YC, Ke YY, Chang SP, Chen CP, Lee DJ, Lee ML, Lee MH, Chen TH, Chen CH, Lin HM, Liu CS, Ma GC.
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| Am J Med Genet A 149A(7):1550-4. No abstract available. PMID: 19504603 2009
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| 12 | ZMPSTE24
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| ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders.
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| Barrowman J, Michaelis S.
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| Biol Chem 390(8):761-73. Review.PMID: 19453269 2009
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| 13 | ZMPSTE24, MADYS2
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| Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
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| Miyoshi Y, Akagi M, Agarwal AK, Namba N, Kato-Nishimura K, Mohri I, Yamagata M, Nakajima S, Mushiake S, Shima M, Auchus RJ, Taniike M, Garg A, Ozono K.
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| Clin Genet 73(6):535-44. Epub 2008 Apr 22. 2008
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| 14 | RDMP1, ZMPSTE24
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| A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
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| Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger TG, Verstraeten VL.
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| Br J Dermatol 159(4):961-7. Epub 2008 Jul 30.
2008
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| 15 | ZMPSTE24, LMNA, PRO1
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| A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
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| Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T.
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| Hum Mutat 27(6):524-31. 2006
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| 16 | RDMP1, RDMP2, ZMPSTE24, LMNA
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| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy.
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| Navarro C, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smith HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N.
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| Hum Mol Genet 2004 Aug 18 [Epub ahead of print] 2004
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| 17 | RDMP1, RDMP2, LMNA, ZMPSTE24, PRO1
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| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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| Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N.
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| Hum Mol Genet 13(20):2493-503. Epub 2004 Aug 18. 2004
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| 18 | LMNA, ZMPSTE24
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| Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
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| Fong LG, Ng JK, Meta M, Cote N, Yang SH, Stewart CL, Sullivan T, Burghardt A, Majumdar S, Reue K, Bergo MO, Young SG.
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| Proc Natl Acad Sci U S A 101(52):18111-6. Epub 2004 Dec 17. 2004
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| 19 | MADYS1, MADYS2, ZMPSTE24
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| Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
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| Agarwal AK, Fryns JP, Auchus RJ, Garg A.
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| Hum Mol Genet 12(16):1995-2001. 2003
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| 20 | ZMPSTE24, RCE1
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| Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
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| Freije JM, et al.
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| Genomics 58(3):270-80. 1999
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| 21 | ZMPSTE24
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| Identification of a human cDNA encoding a novel protein structurally related to the yeast membrane-associated metalloprotease, Ste24p.
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| Kumagai H, et al.
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| Biochim Biophys Acta 1426(3):468-74 1999
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| 22 | ZMPSTE24
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| Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing.
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| Tam A, et al.
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| J Cell Biol 142(3):635-49 1998
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