Citations for
1LPCMD, ZMPSTE24
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
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.
Cells 5(2). pii: E21. doi: 10.3390/cells5020021. 2016
2HGPSA, ZMPSTE24
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Ístlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ.
J Cell Sci 129(10):1975-80. doi: 10.1242/jcs.187302. 2016
3RDMP1, ZMPSTE24
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
Matulevičienė A, MeÜkienė R, Morkūnienė A, Ambrozaitytė L, MeÜkauskas R, GarunkÜtienė R, Drazdienė N, Utkus A, Kučinskas V.
Clin Dysmorphol 25(1):7-11. doi: 10.1097/MCD.0000000000000100. 2016
4ZMPSTE24
Mice that express farnesylated versions of prelamin A in neurons develop achalasia.
Yang SH, Procaccia S, Jung HJ, Nobumori C, Tatar A, Tu Y, Bayguinov YR, Hwang SJ, Tran D, Ward SM, Fong LG, Young SG.
Hum Mol Genet 24(10):2826-40. doi: 10.1093/hmg/ddv043. 2015
5RDMP1, ZMPSTE24
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schr÷der W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, LÚvy N, Badens C, Wehnert M, De Sandre-Giovannoli A.
Eur J Hum Genet 22(8):1002-11. doi: 10.1038/ejhg.2013.258. 2014
6ZMPSTE24
The structural basis of ZMPSTE24-dependent laminopathies.
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.
Science 339(6127):1604-7. doi: 10.1126/science.1231513. 2013
7HGPSA, ZMPSTE24
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S.
Hum Mol Genet 21(18):4084-93. doi: 10.1093/hmg/dds233. 2012
8MADYS2, ZMPSTE24
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadi˝anos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, LÚvy N, Bonne G.
Eur J Hum Genet 19(6):647-54. Epub 2011 Jan 26. 2011
9MADYS2, ZMPSTE24
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T.
Bone 47(3):591-7. doi: 10.1016/j.bone.2010.06.004. 2010
10ZMPSTE24
Accelerated features of age-related bone loss in zmpste24 metalloproteinase-deficient mice.
Rivas D, Li W, Akter R, Henderson JE, Duque G.
J Gerontol A Biol Sci Med Sci 64(10):1015-24. Epub 2009 Jul 8.PMID: 19587107 2009
11ZMPSTE24
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
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.
Am J Med Genet A 149A(7):1550-4. No abstract available. PMID: 19504603 2009
12ZMPSTE24
ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders.
Barrowman J, Michaelis S.
Biol Chem 390(8):761-73. Review.PMID: 19453269 2009
13ZMPSTE24, MADYS2
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
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.
Clin Genet 73(6):535-44. Epub 2008 Apr 22. 2008
14RDMP1, ZMPSTE24
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
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.
Br J Dermatol 159(4):961-7. Epub 2008 Jul 30. 2008
15ZMPSTE24, LMNA, PRO1
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.
Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T.
Hum Mutat 27(6):524-31. 2006
16RDMP1, RDMP2, ZMPSTE24, LMNA
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy.
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.
Hum Mol Genet 2004 Aug 18 [Epub ahead of print] 2004
17RDMP1, RDMP2, LMNA, ZMPSTE24, PRO1
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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.
Hum Mol Genet 13(20):2493-503. Epub 2004 Aug 18. 2004
18LMNA, ZMPSTE24
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
Fong LG, Ng JK, Meta M, Cote N, Yang SH, Stewart CL, Sullivan T, Burghardt A, Majumdar S, Reue K, Bergo MO, Young SG.
Proc Natl Acad Sci U S A 101(52):18111-6. Epub 2004 Dec 17. 2004
19MADYS1, MADYS2, ZMPSTE24
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
Agarwal AK, Fryns JP, Auchus RJ, Garg A.
Hum Mol Genet 12(16):1995-2001. 2003
20ZMPSTE24, RCE1
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
Freije JM, et al.
Genomics 58(3):270-80. 1999
21ZMPSTE24
Identification of a human cDNA encoding a novel protein structurally related to the yeast membrane-associated metalloprotease, Ste24p.
Kumagai H, et al.
Biochim Biophys Acta 1426(3):468-74 1999
22ZMPSTE24
Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing.
Tam A, et al.
J Cell Biol 142(3):635-49 1998