Citations for
1EMD, HDAC3
Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors.
Bossone KA, Ellis JA, Holaska JM.
Muscle Nerve uscle Nerve. 2020 Apr 18. doi: 10.1002/mus.26892. [Epub ahead of print] 2020
2EMD, LMNA, SUN1, SUN2, SYNE1
Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in γ-Irradiation-Induced Senescent Cells.
Alena SK, Eva B, Aleš K, Emilie L.
Cells 9(4). pii: E999. doi: 10.3390/cells9040999. 2020
3EMD, LEMD2, LEMD3
Comparative Interactome Analysis of Emerin, MAN1 and LEM2 Reveals a Unique Role for LEM2 in Nucleotide Excision Repair.
Moser B, Basílio J, Gotzmann J, Brachner A, Foisner R.
Cells 9(2). pii: E463. doi: 10.3390/cells9020463. 2020
4BCL2L12, EMD, KLK10, LMNA, MYO1C, SMAD2
Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus.
Ranade D, Pradhan R, Jayakrishnan M, Hegde S, Sengupta K.
BMC Mol Cell Biol 20(1):11. doi: 10.1186/s12860-019-0192-5. 2019
5EMD
Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.
Muchir A, Worman HJ.
Curr Opin Neurol 32(5):728-734. doi: 10.1097/WCO.0000000000000741. 2019
6BANF1, EMD
An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress.
Essawy N, Samson C, Petitalot A, Moog S, Bigot A, Herrada I, Marcelot A, Arteni AA, Coirault C, Zinn-Justin S.
Cells 8(6). pii: E570. doi: 10.3390/cells8060570. 2019
7EMD
Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients.
Dubińska-Magiera M, Kozioł K, Machowska M, Piekarowicz K, Filipczak D, Rzepecki R.
Cells 8(3). pii: E240. doi: 10.3390/cells8030240. 2019
8BANF1, EMD, TMEM201
Monitoring of chromatin organization in live cells by FRIC. Effects of the inner nuclear membrane protein Samp1.
Bergqvist C, Niss F, Figueroa RA, Beckman M, Maksel D, Jafferali MH, Kulyté A, Ström AL, Hallberg E.
Nucleic Acids Res 47(9):e49. doi: 10.1093/nar/gkz123. 2019
9EMD, PRO1, SUN1, SUN2, SYNE1, SYNE2
Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging.
Chang W, Wang Y, Luxton GWG, Östlund C, Worman HJ, Gundersen GG.
Proc Natl Acad Sci U S A 116(9):3578-3583. doi: 10.1073/pnas.1809683116. Epub 2019 Feb 11. 2019
10EMD, HSP90AA1, HSPA4, STIP1
Hop/STIP1 depletion alters nuclear structure via depletion of nuclear structural protein emerin.
Kituyi SN, Edkins AL.
Biochem Biophys Res Commun 507(1-4):503-509. doi: 10.1016/j.bbrc.2018.11.073. Epub 2018 Nov 16. 2018
11EMD, NCAM1
Evaluation of the diagnostic value of emerin and CD56 in papillary thyroid carcinoma - an immunohistochemical study.
Abdou AG, Abdelwahed M, Said A, Taie DM, Fahmy S.
J Immunoassay Immunochem 39(5):521-537. doi: 10.1080/15321819.2018.1514508. Epub 2018 Sep 6. 2018
12EMD
Emerin Deregulation Links Nuclear Shape Instability to Metastatic Potential.
Reis-Sobreiro M, Chen JF, Novitskaya T, You S, Morley S, Steadman K, Gill NK, Eskaros A, Rotinen M, Chu CY, Chung LWK, Tanaka H, Yang W, Knudsen BS, Tseng HR, Rowat AC, Posadas EM, Zijlstra A, Di Vizio D, Freeman MR.
Cancer Res 78(21):6086-6097. doi: 10.1158/0008-5472.CAN-18-0608. Epub 2018 Aug 28. 2018
13BANF1, EMD, LMNA
Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.
Samson C, Petitalot A, Celli F, Herrada I, Ropars V, Le Du MH, Nhiri N, Jacquet E, Arteni AA, Buendia B, Zinn-Justin S.
Nucleic Acids Res 46(19):10460-10473. doi: 10.1093/nar/gky736. 2018
14EMD, RAN, TMEM201
RanGTPase regulates the interaction between the inner nuclear membrane proteins, Samp1 and Emerin.
Vijayaraghavan B, Figueroa RA, Bergqvist C, Gupta AJ, Sousa P, Hallberg E.
Biochim Biophys Acta Biomembr 1860(6):1326-1334. doi: 10.1016/j.bbamem.2018.03.001. Epub 2018 Mar 3. 2018
15EMD
Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient.
Shimojima M, Yuasa S, Motoda C, Yozu G, Nagai T, Ito S, Lachmann M, Kashimura S, Takei M, Kusumoto D, Kunitomi A, Hayashiji N, Seki T, Tohyama S, Hashimoto H, Kodaira M, Egashira T, Hayashi K, Nakanishi C, Sakata K, Yamagishi M, Fukuda K.
Sci Rep 7:44312. doi: 10.1038/srep44312. 2017
16EMD
Emerin self-assembly mechanism: role of the LEM domain.
Samson C, Celli F, Hendriks K, Zinke M, Essawy N, Herrada I, Arteni AA, Theillet FX, Alpha-Bazin B, Armengaud J, Coirault C, Lange A, Zinn-Justin S.
FEBS J 284(2):338-352. doi: 10.1111/febs.13983. Epub 2017 Jan 9. 2017
17EMD
Emerin suppresses Notch signaling by restricting the Notch intracellular domain to the nuclear membrane.
Lee B, Lee TH, Shim J.
Biochim Biophys Acta Mol Cell Res 1864(2):303-313. doi: 10.1016/j.bbamcr.2016.11.013. Epub 2016 Nov 16. 2017
18EMD
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
Finsterer J, Stöllberger C, Sehnal E, Rehder H, Laccone F.
Cardiology 130(1):48-51. doi: 10.1159/000368222. Epub 2014 Dec 11. 2015
19BANF1, EMD
The molecular basis of emerin-emerin and emerin-BAF interactions.
Berk JM, Simon DN, Jenkins-Houk CR, Westerbeck JW, Grřnning-Wang LM, Carlson CR, Wilson KL.
J Cell Sci 127(Pt 18):3956-69. doi: 10.1242/jcs.148247. Epub 2014 Jul 22. 2014
20EMD, TMEM201
MCLIP, an effective method to detect interactions of transmembrane proteins of the nuclear envelope in live cells.
Jafferali MH, Vijayaraghavan B, Figueroa RA, Crafoord E, Gudise S, Larsson VJ, Hallberg E.
Biochim Biophys Acta 1838(10):2399-403. doi: 10.1016/j.bbamem.2014.06.008. Epub 2014 Jun 17. 2014
21EMD, MYH10
Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts.
Chang W, Folker ES, Worman HJ, Gundersen GG.
Mol Biol Cell 24(24):3869-80. doi: 10.1091/mbc.E13-06-0307. Epub 2013 Oct 23. 2013
22EMD, HDAC3
The nuclear envelope protein emerin binds directly to histone deacetylase 3 (HDAC3) and activates HDAC3 activity.
Demmerle J, Koch AJ, Holaska JM.
J Biol Chem 287(26):22080-8. doi: 10.1074/jbc.M111.325308. Epub 2012 May 8. 2012
23EMD, LMO7
Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes.
Dedeic Z, Cetera M, Cohen TV, Holaska JM.
J Cell Sci 124(Pt 10):1691-702. Epub 2011 Apr 26. 2011
24EMD
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
Brown CA, Scharner J, Felice K, Meriggioli MN, Tarnopolsky M, Bower M, Zammit PS, Mendell JR, Ellis JA.
J Hum Genet 56(8):589-94. doi: 10.1038/jhg.2011.65. Epub 2011 Jun 23. 2011
25EMD, SYNE2
Nesprin-2 interacts with {alpha}-catenin and regulates Wnt signaling at the nuclear envelope.
Neumann S, Schneider M, Daugherty RL, Gottardi CJ, Eming SA, Beijer A, Noegel AA, Karakesisoglou I.
J Biol Chem 285(45):34932-8. Epub 2010 Aug 26. 2010
26EMD, LEMD2, LEMD3
Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.
Huber MD, Guan T, Gerace L.
Mol Cell Biol 29(21):5718-28. Epub 2009 Aug 31. 2009
27EMD
Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases.
Tifft KE, Bradbury KA, Wilson KL.
J Cell Sci 122(Pt 20):3780-90. Epub 2009 Sep 29.PMID: 19789182 2009
28EMD, LMNA
Emerin-prelamin A interplay in human fibroblasts.
Capanni C, Del Coco R, Mattioli E, Camozzi D, Columbaro M, Schena E, Merlini L, Squarzoni S, Maraldi NM, Lattanzi G.
Biol Cell 101(9):541-54.PMID: 19323649 2009
29EMD, LMNA
Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
Muchir A, Wu W, Worman HJ.
Biochim Biophys Acta 1792(1):75-81. Epub 2008 Nov 5.PMID: 19022376 2009
30EMD
Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models.
Hale CM, Shrestha AL, Khatau SB, Stewart-Hutchinson PJ, Hernandez L, Stewart CL, Hodzic D, Wirtz D.
Biophys J 95(11):5462-75. Epub 2008 Sep 12.PMID: 18790843 2008
31EMD, LMNA
Emerin and the nuclear lamina in muscle and cardiac disease.
Holaska JM.
Circ Res 103(1):16-23. Review.PMID: 18596264 2008
32ATFB13, EMD
X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation.
Karst ML, Herron KJ, Olson TM.
J Cardiovasc Electrophysiol 19(5):510-5. Epub 2008 Feb 4.PMID: 18266676 2008
33EMD, LMNA, EMD2
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.
Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL.
Hum Mol Genet 15(4):637-51. Epub 2006 Jan 10. 2006
34EMD, LMO7
Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.
Holaska JM, Rais-Bahrami S, Wilson KL.
Hum Mol Genet 15(23):3459-72. Epub 2006 Oct 26. 2006
35EMD
Identification of tyrosine-phosphorylation sites in the nuclear membrane protein emerin.
Schlosser A, Amanchy R, Otto H.
FEBS J 273(14):3204-15. 2006
36EMD
The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus.
Markiewicz E, Tilgner K, Barker N, van de Wetering M, Clevers H, Dorobek M, Hausmanowa-Petrusewicz I, Ramaekers FC, Broers JL, Blankesteijn WM, Salpingidou G, Wilson RG, Ellis JA, Hutchison CJ.
EMBO J 25(14):3275-85. Epub 2006 Jul 20. 2006
37EMD
The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.
Roberts RC, Sutherland-Smith AJ, Wheeler MA, Jensen ON, Emerson LJ, Spiliotis II, Tate CG, Kendrick-Jones J, Ellis JA.
FEBS J 273(19):4562-75. 2006
38LMNA, SYNE2, EMD
Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope.
Libotte T, Zaim H, Abraham S, Padmakumar VC, Schneider M, Lu W, Munck M, Hutchison C, Wehnert M, Fahrenkrog B, Sauder U, Aebi U, Noegel AA, Karakesisoglou I.
Mol Biol Cell 16(7):3411-24. Epub 2005 Apr 20. 2005
39EMD, BCLAF1
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
Hashiguchi N, Mori C, Wilson KL, Hiraoka Y.
Eur J Biochem 271(5):1035-45. 2004
40ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
Perturbations of chromatin structure in human genetic disease: recent advances.
Bickmore WA, Van Der Maarel SM.
Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
41EMD, LMNA
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A, Bonne G, Schwartz K.
Eur J Hum Genet 10(3):157-61. 2002
42LMNA, EMD
Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy.
Maraldi NM, Lattanzi G, Sabatelli P, Ognibene A, Squarzoni S.
Neuromuscul Disord 12(9):815-23. Review. 2002
43EMD, LMNA
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
Lee KK, Haraguchi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL.
J Cell Sci 114(Pt 24):4567-73. 2001
44EMD
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.
Wolff N, Gilquin B, Courchay K, Callebaut I, Worman HJ, Zinn-Justin S.
FEBS Lett 501(2-3):171-6. 2001
45EMD
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.
Ellis JA, Brown CA, Tilley LD, Kendrick-Jones J, Spence JE, Yates JR.
Neuromuscul Disord 10(1):24-30. 2000
46EMD
Emerin presence in platelets.
Squarzoni S, Sabatelli P, Capanni C, Petrini S, Ognibene A, Toniolo D, Cobianchi F, Zauli G, Bassini A, Baracca A, Guarnieri C, Merlini L, Maraldi NM.
Acta Neuropathol (Berl) 100(3):291-8. 2000
47EMD, LMNA
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML.
Neurology 55(2):275-80. 2000
48EMD
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
Ellis JA, et al.
Hum Genet 104(3):262-8. 1999
49EMD
Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.
Tsuchiya Y, et al.
Eur J Biochem 259(3):859-65. 1999
50EMD
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.
de Koning Gans PA, et al.
Neuromuscul Disord 9(4):247-50 1999
51DYSF, EMD, EMD3
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.
Ognibene A, et al.
Muscle Nerve 22(7):864-9 1999
52EMD3, EMD
Mutation analysis in Emery-Dreifuss muscular dystrophy.
Nevo Y, et al.
Pediatr Neurol 21(1):456-9 1999
53EMD
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
Fujimoto S, Ishikawa T, Saito M, Wada Y, Wada I, Arahata K, Nonaka I.
Neuropediatrics 30(3):161-3 1999
54LMNA, EMD
Heart to heart: from nuclear proteins to emery-dreifuss muscular dystrophy.
Morris GE, Manilal S.
Hum Mol Genet 8(10 REVIEW ISSUE):1847-51 1999
55EMD3, EMD
Emerin deletions occurring on both Xq28 inversion backgrounds.
Small K, Warren ST.
Hum Mol Genet 7(1):135-9. 1998
56EMD
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Manilal S, et al.
Hum Mol Genet 7 : 855-864. 1998
57EMD
A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene.
Ichikawa Y, et al.
Ann Neurol 41 : 399-402. 1997
58EMD
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
Wulff K, Parrish JE, Herrmann FH, Wehnert M.
Hum Mutat 9(6):526-30. 1997
59EMD
Heart-specific localization of emerin : new insights into Emery-Dreifuss muscular dystrophy.
Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D.
Hum Mol Genet 6(13):2257-64. 1997
60EMD
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
Small K, et al.
Nat Genet 16(1):96-9. 1997
61EMD
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
Nagano A, et al.
Nat Genet 12 : 254-259. 1996
62EMD
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
Yamada T, et al.
Hum Genet 97 : 693-694. 1996
63EMD
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.
Manilal S, et al.
Hum Mol Genet 5 : 801-808. 1996
64EMD, LGMD2B
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.
Brain 119 ( Pt 6):1895-909. 1996
65EMD, EMD2, EMD3
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al.
Hum Mol Genet 4(10):1859-63. 1995
66EMD
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.
Klauck SM, Wilgenbus P, Yates JR, Muller CR, Poustka A.
Hum Mol Genet 4(10):1853-7. 1995
67EMD
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
Bione S, et al.
Nat Genet 8 : 323-327. 1994
68ATP6AP1, DNASE1L1, DXS253E, DXS254E, EMD, FLNA, G6PD, GDI1, RGCP@, RPL10, UBL4A
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
Bione S, et al.
Proc Natl Acad Sci U S A 90 : 10977-10981. 1993
69EMD
Emery-Dreifuss muscular dystrophy : linkage to markers in distal Xq28.
Yates JR, et al.
J Med Genet 30 : 108-111. 1993
70EMD
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII : C gene.
Wehnert M, et al.
Hum Hered 41 : 364-369. 1991
71EMD
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28 : the results of a collaborative study.
Consalez GG, et al.
Am J Hum Genet 48 : 468-480. 1991
72EMD
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.
Thomas NST, et al.
J Med Genet 23 : 596-598. 1986
73EMD
Emery-Dreifuss muscular dystrophy : localisation to Xq27.3->qter confirmed by linkage to the factor VIII gene.
Yates JR, Affara NA, Jamieson DM, Ferguson-Smith MA, Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Johnston AW, Kelly K.
J Med Genet 23 : 587-590. 1986