Similar articles for PMID: 28050601

Year	Number of Results
2002	2
2003	1
2004	2
2005	9
2006	9
2007	6
2008	5
2009	4
2010	3
2011	3
2012	1
2013	4
2014	2
2015	3
2016	8
2017	2
2018	3
2019	2
2020	1
2021	2
2022	2
2024	0

1

Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.

Akinci B, Sankella S, Gilpin C, Ozono K, Garg A, Agarwal AK. Akinci B, et al. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001339. doi: 10.1101/mcs.a001339. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050601 Free PMC article.

2

Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes.

Toth JI, Yang SH, Qiao X, Beigneux AP, Gelb MH, Moulson CL, Miner JH, Young SG, Fong LG. Toth JI, et al. Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12873-8. doi: 10.1073/pnas.0505767102. Epub 2005 Aug 29. Proc Natl Acad Sci U S A. 2005. PMID: 16129834 Free PMC article.

3

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, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.

4

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403

5

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Agarwal AK, Fryns JP, Auchus RJ, Garg A. Agarwal AK, et al. Hum Mol Genet. 2003 Aug 15;12(16):1995-2001. doi: 10.1093/hmg/ddg213. Hum Mol Genet. 2003. PMID: 12913070

6

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR. Hitzert MM, et al. Orphanet J Rare Dis. 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. Orphanet J Rare Dis. 2019. PMID: 31856865 Free PMC article.

7

Prelamin A and lamin A appear to be dispensable in the nuclear lamina.

Fong LG, Ng JK, Lammerding J, Vickers TA, Meta M, Coté N, Gavino B, Qiao X, Chang SY, Young SR, Yang SH, Stewart CL, Lee RT, Bennett CF, Bergo MO, Young SG. Fong LG, et al. J Clin Invest. 2006 Mar;116(3):743-52. doi: 10.1172/JCI27125. J Clin Invest. 2006. PMID: 16511604 Free PMC article.

8

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. Sander CS, et al. Br J Dermatol. 2008 Sep;159(4):961-7. doi: 10.1111/j.1365-2133.2008.08772.x. Epub 2008 Jul 30. Br J Dermatol. 2008. PMID: 18671782

9

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, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ. Wang Y, et al. J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31. J Cell Sci. 2016. PMID: 27034136 Free PMC article.

10

Deficiency in ZMPSTE24 and resulting farnesyl-prelamin A accumulation only modestly affect mouse adipose tissue stores.

Heizer PJ, Yang Y, Tu Y, Kim PH, Chen NY, Hu Y, Yoshinaga Y, de Jong PJ, Vergnes L, Morales JE, Li RL, Jackson N, Reue K, Young SG, Fong LG. Heizer PJ, et al. J Lipid Res. 2020 Mar;61(3):413-421. doi: 10.1194/jlr.RA119000593. Epub 2020 Jan 15. J Lipid Res. 2020. PMID: 31941672 Free PMC article.

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