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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.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001339. doi: 10.1101/mcs.a001339.


Mass spectrometry captures off-target drug binding and provides mechanistic insights into the human metalloprotease ZMPSTE24.

Mehmood S, Marcoux J, Gault J, Quigley A, Michaelis S, Young SG, Carpenter EP, Robinson CV.

Nat Chem. 2016 Dec;8(12):1152-1158. doi: 10.1038/nchem.2591. Epub 2016 Aug 15.


Human CaaX protease ZMPSTE24 expressed in yeast: Structure and inhibition by HIV protease inhibitors.

Clark KM, Jenkins JL, Fedoriw N, Dumont ME.

Protein Sci. 2017 Feb;26(2):242-257. doi: 10.1002/pro.3074. Epub 2016 Nov 11.


The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T.

J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. Epub 2016 Oct 6.


Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.

Robin JD, Magdinier F.

Front Genet. 2016 Aug 23;7:153. doi: 10.3389/fgene.2016.00153. eCollection 2016 Aug 23. Review.


Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells.

Carrero D, Soria-Valles C, López-Otín C.

Dis Model Mech. 2016 Jul 1;9(7):719-35. doi: 10.1242/dmm.024711. Review.


Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A.

Cells. 2016 Jul 11;5(3). pii: E31. doi: 10.3390/cells5030031.


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. 2016 Apr 25;5(2). pii: E21. doi: 10.3390/cells5020021.


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.

J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31.


POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C.

Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6.


Loss of MT1-MMP causes cell senescence and nuclear defects which can be reversed by retinoic acid.

Gutiérrez-Fernández A, Soria-Valles C, Osorio FG, Gutiérrez-Abril J, Garabaya C, Aguirre A, Fueyo A, Fernández-García MS, Puente XS, López-Otín C.

EMBO J. 2015 Jul 14;34(14):1875-88. doi: 10.15252/embj.201490594. Epub 2015 May 19.


Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

Luo DQ, Wang XZ, Meng Y, He DY, Chen YM, Ke ZY, Yan M, Huang Y, Chen DF.

BMC Pediatr. 2014 Oct 7;14:256. doi: 10.1186/1471-2431-14-256.


Genetic Association of MPPED2 and ACTN2 with Dental Caries.

Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML, Shaffer JR.

J Dent Res. 2014 Jul;93(7):626-32. doi: 10.1177/0022034514534688. Epub 2014 May 8.


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, 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.

Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.


Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W.

Aging (Albany NY). 2013 Jun;5(6):445-59.


An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16.


Balancing the fat: lipid droplets and human disease.

Krahmer N, Farese RV Jr, Walther TC.

EMBO Mol Med. 2013 Jul;5(7):973-83. doi: 10.1002/emmm.201100671. Epub 2013 Jun 6. Review.


When lamins go bad: nuclear structure and disease.

Schreiber KH, Kennedy BK.

Cell. 2013 Mar 14;152(6):1365-75. doi: 10.1016/j.cell.2013.02.015. Review.


Biogenesis of the Saccharomyces cerevisiae pheromone a-factor, from yeast mating to human disease.

Michaelis S, Barrowman J.

Microbiol Mol Biol Rev. 2012 Sep;76(3):626-51. doi: 10.1128/MMBR.00010-12. Review.


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. 2012 Sep 15;21(18):4084-93. doi: 10.1093/hmg/dds233. Epub 2012 Jun 19.

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