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Volumn 205, Issue 3, 2011, Pages 147-162

Laminopathies: One gene, several diseases;Laminopathies: Un seul gène, de nombreuses pathologies

Author keywords

emery dreifuss muscular dystrophy; Laminopathies; lamins A C; limb girdle muscular dystrophy type 1B; LMNA related congenital muscular dystrophy

Indexed keywords

LAMIN A; LMNA PROTEIN, HUMAN;

EID: 80054046961     PISSN: 21050678     EISSN: 21050686     Source Type: Journal    
DOI: 10.1051/jbio/2011017     Document Type: Article
Times cited : (5)

References (86)
  • 1
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase ZMPSTE24, is mutated in mandibuloacral dysplasia
    • DOI 10.1093/hmg/ddg213
    • Agarwal A.K., Fryns J.P., Auchus R.J., Garg A., Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet, 2003, 12, 1995-2001. (Pubitemid 37038808)
    • (2003) Human Molecular Genetics , vol.12 , Issue.16 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.-P.2    Auchus, R.J.3    Garg, A.4
  • 2
    • 57349129333 scopus 로고    scopus 로고
    • Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation
    • Agarwal A.K., Kazachkova I., Ten S., Garg A., Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab, 2008, 93, 4617-4623.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4617-4623
    • Agarwal, A.K.1    Kazachkova, I.2    Ten, S.3    Garg, A.4
  • 8
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • DOI 10.1038/ng1294-323
    • Bione S., Maestrini E., Rivella S., Manchini M., Regis S., Romei G., Toniolo D., Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet, 1994, 8, 323-327. (Pubitemid 24375595)
    • (1994) Nature Genetics , vol.8 , Issue.4 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3    Mancini, M.4    Regis, S.5    Romeo, G.6    Toniolo, D.7
  • 11
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky G.L., Muntoni F., Miocic S., Sinagra G., Sewry C., Mestroni L., Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation, 2000, 101, 473-476. (Pubitemid 30080859)
    • (2000) Circulation , vol.101 , Issue.5 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3    Sinagra, G.4    Sewry, C.5    Mestroni, L.6
  • 13
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H., Hegele R.A., Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet, 2000, 9, 109-112. (Pubitemid 30145295)
    • (2000) Human Molecular Genetics , vol.9 , Issue.1 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 14
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • DOI 10.1007/s10038-003-0025-3
    • Cao H., Hegele R., LMNA is mutated in Hutchinson- Gilford progeria (MIM 176670) but not inWiedemann- Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet, 2003, 48, 271-274. (Pubitemid 36759489)
    • (2003) Journal of Human Genetics , vol.48 , Issue.5 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 24
    • 33744985605 scopus 로고    scopus 로고
    • 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
    • DOI 10.1002/humu.20315
    • Denecke J., Brune T., Feldhaus T., Robenek H., Kranz C., Auchus R.J., Agarwal A.K., Marquardt T., 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. Hum Mutat, 2006, 27, 524-531. (Pubitemid 43865724)
    • (2006) Human Mutation , vol.27 , Issue.6 , pp. 524-531
    • Denecke, J.1    Brune, T.2    Feldhaus, T.3    Robenek, H.4    Kranz, C.5    Auchus, R.J.6    Agarwal, A.K.7    Marquardt, T.8
  • 26
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy - A 40 year retrospective
    • DOI 10.1016/S0960-8966(00)00105-X, PII S096089660000105X
    • Emery A.E.H., Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromusc Disord, 2000, 10, 228-232. (Pubitemid 30320910)
    • (2000) Neuromuscular Disorders , vol.10 , Issue.4-5 , pp. 228-232
    • Emery, A.E.H.1
  • 30
    • 32644447630 scopus 로고    scopus 로고
    • Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation
    • DOI 10.1101/gad.1364906
    • Frock R.L., Kudlow B.A., Evans A.M., Jameson S.A., Hauschka S.D., Kennedy B.K., Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev, 2006, 20, 486-500. (Pubitemid 43244402)
    • (2006) Genes and Development , vol.20 , Issue.4 , pp. 486-500
    • Frock, R.L.1    Kudlow, B.A.2    Evans, A.M.3    Jameson, S.A.4    Hauschka, S.D.5    Kennedy, B.K.6
  • 31
    • 0036098280 scopus 로고    scopus 로고
    • Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
    • DOI 10.1016/S0002-9343(02)01070-7, PII S0002934302010707
    • Garg A., Speckman R.A., Bowcock A.M., Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med, 2002, 112, 549-555. (Pubitemid 34518315)
    • (2002) American Journal of Medicine , vol.112 , Issue.7 , pp. 549-555
    • Garg, A.1    Speckman, R.A.2    Bowcock, A.M.3
  • 32
    • 24644473652 scopus 로고    scopus 로고
    • A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia
    • Garg A., Cogulu O., Ozkinay F., Onay H., Agarwal A.K., A Novel Homozygous Ala529Val LMNA mutation in Turkish Patients with Mandibuloacral Dysplasia. J Clin Endocrinol Metab, 2005, 90, 5259-5265
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5259-5265
    • Garg, A.1    Cogulu, O.2    Ozkinay, F.3    Onay, H.4    Agarwal, A.K.5
  • 37
    • 28744453386 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation
    • DOI 10.1210/jc.2005-0939
    • Jacob K.N., Baptista F., dos Santos H.G., Oshima J., Agarwal A.K., Garg A., Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab, 2005, 90, 6699-6706. (Pubitemid 41759335)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.12 , pp. 6699-6706
    • Jacob, K.N.1    Baptista, F.2    Dos Santos, H.G.3    Oshima, J.4    Agarwal, A.K.5    Garg, A.6
  • 40
    • 18444382032 scopus 로고    scopus 로고
    • The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
    • DOI 10.1016/S0969-2126(02)00777-3, PII S0969212602007773
    • Krimm I., Ostlund C., Gilquin B., Couprie J., Hossenlopp P., Mornon J.P., Bonne G., Courvalin J.C., Worman H.J., Zinn-Justin S., The Ig-like structure of the Cterminal domain of lamin a/c, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure (Camb), 2002, 10, 811-823. (Pubitemid 34628710)
    • (2002) Structure , vol.10 , Issue.6 , pp. 811-823
    • Krimm, I.1    Ostlund, C.2    Gilquin, B.3    Couprie, J.4    Hossenlopp, P.5    Mornon, J.-P.6    Bonne, G.7    Courvalin, J.-C.8    Worman, H.J.9    Zinn-Justin, S.10
  • 42
    • 68249129558 scopus 로고    scopus 로고
    • Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance
    • Liang L., Zhang H., Gu X., Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance. Acta Paediatr, 2009, 98, 1365-1368.
    • (2009) Acta Paediatr , vol.98 , pp. 1365-1368
    • Liang, L.1    Zhang, H.2    Gu, X.3
  • 44
    • 0036537888 scopus 로고    scopus 로고
    • A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies
    • Lloyd D.J., Trembath R.C., Shackleton S., A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies. Hum Mol Genet, 2002, 11, 769-777. (Pubitemid 34428644)
    • (2002) Human Molecular Genetics , vol.11 , Issue.7 , pp. 769-777
    • Lloyd, D.J.1    Trembath, R.C.2    Shackleton, S.3
  • 46
    • 16344380741 scopus 로고    scopus 로고
    • Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiation
    • DOI 10.1091/mbc.E04-02-0154
    • Mariappan I., Parnaik V.K., Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiation. Mol Biol Cell, 2005, 16, 1948-1960. (Pubitemid 40471962)
    • (2005) Molecular Biology of the Cell , vol.16 , Issue.4 , pp. 1948-1960
    • Mariappan, I.1    Parnaik, V.K.2
  • 47
    • 14044265165 scopus 로고    scopus 로고
    • Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro
    • DOI 10.1242/jcs.01630
    • Markiewicz E., Ledran M., Hutchison C.J., Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro. J Cell Sci, 2005, 118, 409-420. (Pubitemid 40277352)
    • (2005) Journal of Cell Science , vol.118 , Issue.2 , pp. 409-420
    • Markiewicz, E.1    Ledran, M.2    Hutchison, C.J.3
  • 48
    • 2442589861 scopus 로고    scopus 로고
    • Extreme Variability of Phenotype in Patients with an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset with Severe Phenotype to Milder Classic Emery-Dreifuss Variant
    • DOI 10.1001/archneur.61.5.690
    • Mercuri E., Poppe M., Quinlivan R.,Messina S., Kinali M., Demay L., Bourke J., Richard P., Sewry C., Pike M., Bonne G., Muntoni F., Bushby K., Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: From congenital onset with severe phenotype to milder classic emery-dreifuss variant. Arch Neurol, 2004, 61, 690-694. (Pubitemid 38637685)
    • (2004) Archives of Neurology , vol.61 , Issue.5 , pp. 690-694
    • Mercuri, E.1    Poppe, M.2    Quinlivan, R.3    Messina, S.4    Kinali, M.5    Demay, L.6    Bourke, J.7    Richard, P.8    Sewry, C.9    Pike, M.10    Bonne, G.11    Muntoni, F.12    Bushby, K.13
  • 51
    • 58849099548 scopus 로고    scopus 로고
    • Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation
    • Mory P.B., Crispim F., Kasamatsu T., Gabbay M.A., Dib S.A., Moises R.S., Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. Arq Bras Endocrinol Metabol, 2008, 52, 1252-1256.
    • (2008) Arq Bras Endocrinol Metabol , vol.52 , pp. 1252-1256
    • Mory, P.B.1    Crispim, F.2    Kasamatsu, T.3    Gabbay, M.A.4    Dib, S.A.5    Moises, R.S.6
  • 53
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K., Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet, 2000, 9, 1453-1459. (Pubitemid 30312494)
    • (2000) Human Molecular Genetics , vol.9 , Issue.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kool, A.J.3    Van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6    De Visser, M.7    Schwartz, K.8
  • 54
    • 0344309291 scopus 로고    scopus 로고
    • Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
    • DOI 10.1016/j.yexcr.2003.07.002
    • Muchir A., van Engelen B.G., Lammens M., Mislow J.M., McNally E., Schwartz K., Bonne G., Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res, 2003, 291, 352-362. (Pubitemid 37492866)
    • (2003) Experimental Cell Research , vol.291 , Issue.2 , pp. 352-362
    • Muchir, A.1    Van Engelen, B.G.2    Lammens, M.3    Mislow, J.M.4    McNally, E.5    Schwartz, K.6    Bonne, G.7
  • 55
    • 33751255699 scopus 로고    scopus 로고
    • Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins
    • DOI 10.1016/j.bbrc.2006.10.147, PII S0006291X06024119
    • Muchir A., Massart C., van Engelen B.G., Lammens M., Bonne G., Worman H.J., Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins. Biochem Biophys Res Commun, 2006, 351, 1011-1017. (Pubitemid 44780992)
    • (2006) Biochemical and Biophysical Research Communications , vol.351 , Issue.4 , pp. 1011-1017
    • Muchir, A.1    Massart, C.2    Van Engelen, B.G.3    Lammens, M.4    Bonne, G.5    Worman, H.J.6
  • 57
    • 58049209788 scopus 로고    scopus 로고
    • Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins
    • Muchir A., Shan J., Bonne G., Lehnart S.E.,Worman H.J., Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Hum Mol Genet, 2009, 18, 241-247.
    • (2009) Hum Mol Genet , vol.18 , pp. 241-247
    • Muchir, A.1    Shan, J.2    Bonne, G.3    Lehnart, S.E.4    Worman, H.J.5
  • 59
    • 33748993124 scopus 로고    scopus 로고
    • Molecular bases of progeroid syndromes
    • DOI 10.1093/hmg/ddl214
    • Navarro C.L., Cau P., Lévy N., Molecular bases of progeroid syndromes. Hum Mol Genet, 2006, 15 Spec. No 2, R151-161. (Pubitemid 44446788)
    • (2006) Human Molecular Genetics , vol.15 , Issue.SUPPL. 2
    • Navarro, C.L.1    Cau, P.2    Levy, N.3
  • 68
    • 58449087372 scopus 로고    scopus 로고
    • SREBPs: Physiology and pathophysiology of the SREBP family
    • Shimano H., SREBPs: Physiology and pathophysiology of the SREBP family. FEBS J, 2009, 276, 616-621.
    • (2009) FEBS J , vol.276 , pp. 616-621
    • Shimano, H.1
  • 78
    • 34247485356 scopus 로고    scopus 로고
    • A-type lamin networks in light of laminopathic diseases
    • DOI 10.1016/j.bbamcr.2006.07.002, PII S0167488906001546
    • Vlcek S., Foisner R., A-type lamin networks in light of laminopathic diseases. Biochim Biophys Acta, 2007, 1773, 661-674. (Pubitemid 46660176)
    • (2007) Biochimica et Biophysica Acta - Molecular Cell Research , vol.1773 , Issue.5 , pp. 661-674
    • Vlcek, S.1    Foisner, R.2
  • 82
    • 34249788998 scopus 로고    scopus 로고
    • "Laminopathies": A wide spectrum of human diseases
    • DOI 10.1016/j.yexcr.2007.03.028, PII S0014482707001279
    • Worman H.J., Bonne G., "Laminopathies": A wide spectrum of human diseases. Exp Cell Res, 2007, 313, 2121-2133. (Pubitemid 46850729)
    • (2007) Experimental Cell Research , vol.313 , Issue.10 , pp. 2121-2133
    • Worman, H.J.1    Bonne, G.2
  • 83
    • 77953810973 scopus 로고    scopus 로고
    • Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene
    • Wu W., Shan J., Bonne G., Worman H.J., Muchir A., Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene. Biochim Biophys Acta, 2010, 1802, 632-638.
    • (2010) Biochim Biophys Acta , vol.1802 , pp. 632-638
    • Wu, W.1    Shan, J.2    Bonne, G.3    Worman, H.J.4    Muchir, A.5
  • 84
    • 78751632066 scopus 로고    scopus 로고
    • Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene
    • Wu W., Muchir A., Shan J., Bonne G., Worman H.J., Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation, 2011, 123 53-61.
    • (2011) Circulation , vol.123 , pp. 53-61
    • Wu, W.1    Muchir, A.2    Shan, J.3    Bonne, G.4    Worman, H.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.