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维基百科

LMNA

九月 24, 2023

核纤层蛋白 A/C（英語：Lamin A/C）是由人类基因LMNA 编码的蛋白质[1][2]，属于核纤层蛋白家族。

核纤层蛋白 A/C
Lamin A/C
PDB rendering based on 1ifr.
有效结构
PDB 直系同源检索：PDBe, RCSB
标识
代号 LMNA; CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1
扩展标识 遗传学：150330 鼠基因：96794 同源基因：41321 ChEMBL: 1293235 GeneCards: LMNA Gene
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 4000 16905
Ensembl ENSG00000160789 ENSMUSG00000028063
UniProt P02545 P48678
mRNA序列 NM_001257374 NM_001002011
蛋白序列 NP_001244303 NP_001002011
基因位置 Chr 1:
156.05 – 156.11 Mb		 Chr 3:
88.48 – 88.51 Mb
PubMed查询 [1] [2]

功能 编辑

 
Biogenesis of lamin A in normal cells and the failure to generate mature lamin A in HGPS. In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In HGPS, a 50-amino acid deletion in prelamin A (amino acids 607–656) removes the site for the second endoproteolytic cleavage. Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. Coutinho et al. Immunity & Ageing 2009.[3]

核纖層是真核生物细胞核中附于内核膜（英语：inner nuclear membrane）内侧的网络片层结构。其核纤层蛋白家族在进化中高度保守。在有絲分裂过程中，核纤层蛋白磷酸化，核纖層解聚（这一过程是可逆的）。Lamin蛋白質被認為與細胞核的穩定性、染色質的結構與基因的表達有關. 脊椎動物的核纖層蛋白包含A和B兩種形式。人類Lamin A/C基因透過選擇性剪接可以產生出三種A型異構體。[4]

Early in mitosis, MPF phosphorylates specific serine residues in all three nuclear lamins, causing depolymerization of the lamin intermediate filaments. The phosphorylated lamin B dimers remain associated with the nuclear membrane via their isoprenyl anchor. Lamin A is targeted to the nuclear membrane by an isoprenyl group but it is cleaved shortly after arriving at the membrane. It stays associated with the membrane through protein-protein interactions of itself and other membrane associated proteins, such as LAP1. Depolymerization of the nuclear lamins leads to disintegration of the nuclear envelope. Transfection experiments demonstrate that phosphorylation of human lamin A is required for lamin depolymerization, and thus for disassembly of the nuclear envelope, which normally occurs early in mitosis.

臨床意義 编辑

Mutations in the LMNA gene are associated with several diseases, including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, Restrictive dermopathy and Hutchinson-Gilford progeria syndrome. A truncated version of lamin A, commonly known as progerin, causes Hutchinson-Gilford progeria syndrome.[5][6]

與其他蛋白或基因的交互作用 编辑

LMNA has been shown to interact with:

参考文献 编辑

  1. ^ Kamat AK, Rocchi M, Smith DI, Miller OJ. Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): 203–8. PMID 8511676. doi:10.1007/BF01233534. 
  2. ^ Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics. March 1996, 32 (3): 474–8. PMID 8838815. doi:10.1006/geno.1996.0146. 
  3. ^ Coutinho HD, Falcão-Silva VS, Gonçalves GF, da Nóbrega RB. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model. Immun Ageing. 2009, 6: 4 [2014-06-20]. PMC 2674425  . PMID 19379495. doi:10.1186/1742-4933-6-4. （原始内容于2019-10-18）. 
  4. ^ Entrez Gene: LMNA lamin A/C. （原始内容于2019-10-18）. 
  5. ^ Capell BC, Collins FS. Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940–52. PMID 17139325. doi:10.1038/nrg1906. 
  6. ^ Rankin J, Ellard S. The laminopathies: a clinical review. Clin. Genet. October 2006, 70 (4): 261–74. PMID 16965317. doi:10.1111/j.1399-0004.2006.00677.x. 
  7. ^ Tang K, Finley RL, Nie D, Honn KV. Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening. Biochemistry. March 2000, 39 (12): 3185–91. PMID 10727209. doi:10.1021/bi992664v. 
  8. ^ Wilkinson FL, Holaska JM, Zhang Z, Sharma A, Manilal S, Holt I, Stamm S, Wilson KL, Morris GE. Emerin interacts in vitro with the splicing-associated factor, YT521-B. Eur. J. Biochem. June 2003, 270 (11): 2459–66. PMID 12755701. doi:10.1046/j.1432-1033.2003.03617.x. 
  9. ^ Lattanzi G, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, Squarzoni S, Maraldi NM. Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts. Biochem. Biophys. Res. Commun. April 2003, 303 (3): 764–70. PMID 12670476. doi:10.1016/S0006-291X(03)00415-7. 
  10. ^ Sakaki M, Koike H, Takahashi N, Sasagawa N, Tomioka S, Arahata K, Ishiura S. Interaction between emerin and nuclear lamins. J. Biochem. February 2001, 129 (2): 321–7. PMID 11173535. doi:10.1093/oxfordjournals.jbchem.a002860. 
  11. ^ Clements L, Manilal S, Love DR, Morris GE. Direct interaction between emerin and lamin A. Biochem. Biophys. Res. Commun. January 2000, 267 (3): 709–14. PMID 10673356. doi:10.1006/bbrc.1999.2023. 
  12. ^ Barton RM, Worman HJ. Prenylated prelamin A interacts with Narf, a novel nuclear protein. J. Biol. Chem. October 1999, 274 (42): 30008–18. PMID 10514485. doi:10.1074/jbc.274.42.30008. 
  13. ^ Lloyd DJ, Trembath RC, Shackleton S. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum. Mol. Genet. April 2002, 11 (7): 769–77. PMID 11929849. doi:10.1093/hmg/11.7.769. 
  14. ^ Markiewicz E, Dechat T, Foisner R, Quinlan RA, Hutchison CJ. Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein. Mol. Biol. Cell. December 2002, 13 (12): 4401–13. PMC 138642  . PMID 12475961. doi:10.1091/mbc.E02-07-0450. 
  15. ^ Dechat T, Korbei B, Vaughan OA, Vlcek S, Hutchison CJ, Foisner R. Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. J. Cell. Sci. October 2000, 113 (19): 3473–84. PMID 10984438. 
  16. ^ Dreuillet C, Tillit J, Kress M, Ernoult-Lange M. In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res. November 2002, 30 (21): 4634–42. PMC 135794  . PMID 12409453. doi:10.1093/nar/gkf587. 
  17. ^ Baohua Liu, Shrestha Ghosh, Xi Yang, Huiling Zheng, Xinguang Liu, Zimei Wang, Guoxiang Jin, Bojian Zheng, Brian K. Kennedy, Yousin Suh, Matt Kaeberlein, Karl Tryggvason, Zhongjun Zhou. Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria. Cell Metabolism. 2012-12-05, 16 (6): 738–750 [2019-05-26]. ISSN 1932-7420. PMID 23217256. doi:10.1016/j.cmet.2012.11.007. （原始内容于2017-09-11）. 

延伸阅读 编辑

  • Gruenbaum Y, Wilson KL, Harel A; et al. Review: nuclear lamins--structural proteins with fundamental functions.. J. Struct. Biol. 2000, 129 (2–3): 313–23. PMID 10806082. doi:10.1006/jsbi.2000.4216. 
  • Worman HJ, Courvalin JC. The inner nuclear membrane. J. Membr. Biol. 2000, 177 (1): 1–11. PMID 10960149. doi:10.1007/s002320001096. 
  • Burke B, Mounkes LC, Stewart CL. The nuclear envelope in muscular dystrophy and cardiovascular diseases. Traffic. 2002, 2 (10): 675–83. PMID 11576443. doi:10.1034/j.1600-0854.2001.21001.x. 
  • Mounkes LC, Burke B, Stewart CL. The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases. Trends Cardiovasc. Med. 2001, 11 (7): 280–5. PMID 11709282. doi:10.1016/S1050-1738(01)00126-8. 
  • Vigouroux C, Magré J, Desbois-Mouthon C; et al. [Major insulin resistance syndromes: clinical and physiopathological aspects]. J. Soc. Biol. 2002, 195 (3): 249–57. PMID 11833462. 
  • Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur. J. Hum. Genet. 2002, 10 (3): 157–61. PMID 11973618. doi:10.1038/sj.ejhg.5200744. 
  • Burke B, Stewart CL. Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575–85. PMID 12154369. doi:10.1038/nrm879. 
  • Novelli G, D'Apice MR. The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends in molecular medicine. 2004, 9 (9): 370–5. PMID 13129702. doi:10.1016/S1471-4914(03)00162-X. 
  • Pasotti M, Repetto A, Pisani A, Arbustini E. [Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know]. Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology. 2004, 5 (2): 98–111. PMID 15080529. 
  • Al-Shali KZ, Hegele RA. Laminopathies and atherosclerosis. Arterioscler. Thromb. Vasc. Biol. 2005, 24 (9): 1591–5. PMID 15205220. doi:10.1161/01.ATV.0000136392.59656.8b. 
  • Garg A, Cogulu O, Ozkinay F; et al. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J. Clin. Endocrinol. Metab. 2005, 90 (9): 5259–64. PMID 15998779. doi:10.1210/jc.2004-2560. 
  • Lees-Miller SP. Dysfunction of lamin A triggers a DNA damage response and cellular senescence. DNA Repair (Amst.). 2006, 5 (2): 286–9. PMID 16344005. doi:10.1016/j.dnarep.2005.10.007. 
  • Donadille B, Lascols O, Capeau J, Vigouroux C. Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?. Diabetes Metab. 2006, 31 (6): 527–32. PMID 16357800. doi:10.1016/S1262-3636(07)70227-6. 
  • Young SG, Meta M, Yang SH, Fong LG. Prelamin A farnesylation and progeroid syndromes. J. Biol. Chem. 2007, 281 (52): 39741–5. PMID 17090536. doi:10.1074/jbc.R600033200. 
  • Halaschek-Wiener J, Brooks-Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J. Gerontol. A Biol. Sci. Med. Sci. 2007, 62 (1): 3–8. PMID 17301031. doi:10.1093/gerona/62.1.3. 
  • Mazereeuw-Hautier J, Wilson LC, Mohammed S; et al. Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. Br. J. Dermatol. 2007, 156 (6): 1308–14. PMID 17459035. doi:10.1111/j.1365-2133.2007.07897.x. 
  • Sliwińska MA. [The role of lamins and mutations of LMNA gene in physiological and premature aging]. Postepy Biochem. 2007, 53 (1): 46–52. PMID 17718387. 
  • Genschel J, Schmidt HH. Mutations in the LMNA gene encoding lamin A/C. Hum. Mutat. December 2000, 16 (6): 451–9. PMID 11102973. doi:10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9. 
  • Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. April 2005, 11 (4): 440–5. PMC 1351119  . PMID 15750600. doi:10.1038/nm1204. 

外部链接 编辑

  • Bird, Thomas D. Charcot-Marie-Tooth Neuropathy Type 2. 30 January 2014 [2014-06-20]. PMID 20301462. NBK1285. （原始内容于2020-04-17）.  In Pagon RA, Bird TD, Dolan CR; et al (编). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. 1993– [2014-06-20]. （原始内容于2020-03-28）. 
  • Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P; Pegoraro, Elena. Congenital Muscular Dystrophy Overview. 23 August 2012 [2014-06-20]. PMID 20301468. NBK1291. （原始内容于2020-08-04）.  In GeneReviews
  • Hershberger, Ray E; Morales, Ana. LMNA-Related Dilated Cardiomyopathy. 19 September 2013 [2014-06-20]. PMID 20301717. NBK1674. （原始内容于2019-02-17）.  In GeneReviews
    • OMIM Cardiomyopathy, Dilated, 1A; CMD1A -115200
    • OMIM LAMIN A/C; LMNA -150330
  • Pegoraro, Elena; Hoffman, Eric P. Limb-Girdle Muscular Dystrophy Overview. 30 August 2012 [2014-06-20]. PMID 20301582. NBK1408. （原始内容于2020-11-14）.  In GeneReviewsGeneReviews/NCBI/NIH/UW entry on （页面存档备份，存于互联网档案馆）
  • Bonne, Gisèle; Leturcq, France; Yaou, Rabah Ben. Emery-Dreifuss Muscular Dystrophy. 17 January 2013 [2014-06-20]. PMID 20301609. NBK1436. （原始内容于2020-12-01）.  In GeneReviews
  • Gordon, Leslie B; Brown, W Ted; Collins, Francis S. Hutchinson-Gilford Progeria Syndrome. 6 January 2011 [2014-06-20]. PMID 20301300. NBK1121. （原始内容于2020-11-05）.  In GeneReviews
  • Corchado, Johnny Cruz; Smith, Richard JH. Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II. 19 May 2011 [2014-06-20]. PMID 20301598. NBK1425. （原始内容于2020-12-01）.  In GeneReviews

九月 24, 2023
lmna, 核纤层蛋白, 英語, lamin, 是由人类基因, 编码的蛋白质, 属于核纤层蛋白家族, 核纤层蛋白, clamin, cpdb, rendering, based, 1ifr, 有效结构pdb, 直系同源检索, pdbe, rcsbpdb查询代码列表1ifr, 1ivt, 1x8y, 2xv5, 2ypt, 3gef, 3v4q, 3v4w, 3v5b标识代号, cdcd1, cddc, cmd1a, cmt2b1, emd2, fpld, fpld2, hgps, ldp1, lgmd1b, lmn. 核纤层蛋白 A C 英語 Lamin A C 是由人类基因LMNA 编码的蛋白质 1 2 属于核纤层蛋白家族 核纤层蛋白 A CLamin A CPDB rendering based on 1ifr 有效结构PDB 直系同源检索 PDBe RCSBPDB查询代码列表1IFR 1IVT 1X8Y 2XV5 2YPT 3GEF 3V4Q 3V4W 3V5B标识代号LMNA CDCD1 CDDC CMD1A CMT2B1 EMD2 FPL FPLD FPLD2 HGPS IDC LDP1 LFP LGMD1B LMN1 LMNC LMNL1 PRO1扩展标识遗传学 150330 鼠基因 96794 同源基因 41321 ChEMBL 1293235 GeneCards LMNA Gene基因本体论描述分子功能 structural molecule activity protein binding细胞成分 nucleus nuclear envelope lamin filament nuclear lamina nucleoplasm cytoplasm cytosol intermediate filament perinuclear region of cytoplasm生物过程 M phase of mitotic cell cycle mitotic prophase mitotic anaphase mitotic cell cycle apoptotic process cellular component disassembly involved in execution phase of apoptosis activation of signaling protein activity involved in unfolded protein response mitotic nuclear envelope disassembly mitotic nuclear envelope reassembly muscle organ development regulation of cell migration establishment or maintenance of microtubule cytoskeleton polarity endoplasmic reticulum unfolded protein response protein localization to nucleus sterol regulatory element binding protein import into nucleus regulation of apoptotic process cellular protein metabolic process ventricular cardiac muscle cell development cellular response to hypoxia positive regulation of cell agingSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez400016905EnsemblENSG00000160789ENSMUSG00000028063UniProtP02545P48678mRNA序列NM 001257374NM 001002011蛋白序列NP 001244303NP 001002011基因位置Chr 1 156 05 156 11 MbChr 3 88 48 88 51 MbPubMed查询 1 2 查论编 目录 1 功能 2 臨床意義 3 與其他蛋白或基因的交互作用 4 参考文献 5 延伸阅读 6 外部链接功能 编辑 nbsp Biogenesis of lamin A in normal cells and the failure to generate mature lamin A in HGPS In the setting of ZMPSTE24 deficiency the final step of lamin processing does not occur resulting in an accumulation of farnesyl prelamin A In HGPS a 50 amino acid deletion in prelamin A amino acids 607 656 removes the site for the second endoproteolytic cleavage Consequently no mature lamin A is formed and a farnesylated mutant prelamin A progerin accumulates in cells Coutinho et al Immunity amp Ageing 2009 3 核纖層是真核生物细胞核中附于内核膜 英语 inner nuclear membrane 内侧的网络片层结构 其核纤层蛋白家族在进化中高度保守 在有絲分裂过程中 核纤层蛋白磷酸化 核纖層解聚 这一过程是可逆的 Lamin蛋白質被認為與細胞核的穩定性 染色質的結構與基因的表達有關 脊椎動物的核纖層蛋白包含A和B兩種形式 人類Lamin A C基因透過選擇性剪接可以產生出三種A型異構體 4 Early in mitosis MPF phosphorylates specific serine residues in all three nuclear lamins causing depolymerization of the lamin intermediate filaments The phosphorylated lamin B dimers remain associated with the nuclear membrane via their isoprenyl anchor Lamin A is targeted to the nuclear membrane by an isoprenyl group but it is cleaved shortly after arriving at the membrane It stays associated with the membrane through protein protein interactions of itself and other membrane associated proteins such as LAP1 Depolymerization of the nuclear lamins leads to disintegration of the nuclear envelope Transfection experiments demonstrate that phosphorylation of human lamin A is required for lamin depolymerization and thus for disassembly of the nuclear envelope which normally occurs early in mitosis 臨床意義 编辑Mutations in the LMNA gene are associated with several diseases including Emery Dreifuss muscular dystrophy familial partial lipodystrophy limb girdle muscular dystrophy dilated cardiomyopathy Charcot Marie Tooth disease Restrictive dermopathy and Hutchinson Gilford progeria syndrome A truncated version of lamin A commonly known as progerin causes Hutchinson Gilford progeria syndrome 5 6 與其他蛋白或基因的交互作用 编辑LMNA has been shown to interact with ALOX12 7 EMD 8 9 10 11 NARF 12 SREBF1 13 TMPO 14 15 ZNF239 16 SIRT1 17 参考文献 编辑 Kamat AK Rocchi M Smith DI Miller OJ Lamin A C gene and a related sequence map to human chromosomes 1q12 1 q23 and 10 Somat Cell Mol Genet March 1993 19 2 203 8 PMID 8511676 doi 10 1007 BF01233534 Wydner KL McNeil JA Lin F Worman HJ Lawrence JB Chromosomal assignment of human nuclear envelope protein genes LMNA LMNB1 and LBR by fluorescence in situ hybridization Genomics March 1996 32 3 474 8 PMID 8838815 doi 10 1006 geno 1996 0146 Coutinho HD Falcao Silva VS Goncalves GF da Nobrega RB Molecular ageing in progeroid syndromes Hutchinson Gilford progeria syndrome as a model Immun Ageing 2009 6 4 2014 06 20 PMC 2674425 nbsp PMID 19379495 doi 10 1186 1742 4933 6 4 原始内容存档于2019 10 18 Entrez Gene LMNA lamin A C 原始内容存档于2019 10 18 Capell BC Collins FS Human laminopathies nuclei gone genetically awry Nat Rev Genet December 2006 7 12 940 52 PMID 17139325 doi 10 1038 nrg1906 Rankin J Ellard S The laminopathies a clinical review Clin Genet October 2006 70 4 261 74 PMID 16965317 doi 10 1111 j 1399 0004 2006 00677 x Tang K Finley RL Nie D Honn KV Identification of 12 lipoxygenase interaction with cellular proteins by yeast two hybrid screening Biochemistry March 2000 39 12 3185 91 PMID 10727209 doi 10 1021 bi992664v Wilkinson FL Holaska JM Zhang Z Sharma A Manilal S Holt I Stamm S Wilson KL Morris GE Emerin interacts in vitro with the splicing associated factor YT521 B Eur J Biochem June 2003 270 11 2459 66 PMID 12755701 doi 10 1046 j 1432 1033 2003 03617 x Lattanzi G Cenni V Marmiroli S Capanni C Mattioli E Merlini L Squarzoni S Maraldi NM Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts Biochem Biophys Res Commun April 2003 303 3 764 70 PMID 12670476 doi 10 1016 S0006 291X 03 00415 7 Sakaki M Koike H Takahashi N Sasagawa N Tomioka S Arahata K Ishiura S Interaction between emerin and nuclear lamins J Biochem February 2001 129 2 321 7 PMID 11173535 doi 10 1093 oxfordjournals jbchem a002860 Clements L Manilal S Love DR Morris GE Direct interaction between emerin and lamin A Biochem Biophys Res Commun January 2000 267 3 709 14 PMID 10673356 doi 10 1006 bbrc 1999 2023 Barton RM Worman HJ Prenylated prelamin A interacts with Narf a novel nuclear protein J Biol Chem October 1999 274 42 30008 18 PMID 10514485 doi 10 1074 jbc 274 42 30008 Lloyd DJ Trembath RC Shackleton S A novel interaction between lamin A and SREBP1 implications for partial lipodystrophy and other laminopathies Hum Mol Genet April 2002 11 7 769 77 PMID 11929849 doi 10 1093 hmg 11 7 769 Markiewicz E Dechat T Foisner R Quinlan RA Hutchison CJ Lamin A C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein Mol Biol Cell December 2002 13 12 4401 13 PMC 138642 nbsp PMID 12475961 doi 10 1091 mbc E02 07 0450 Dechat T Korbei B Vaughan OA Vlcek S Hutchison CJ Foisner R Lamina associated polypeptide 2alpha binds intranuclear A type lamins J Cell Sci October 2000 113 19 3473 84 PMID 10984438 Dreuillet C Tillit J Kress M Ernoult Lange M In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A C Nucleic Acids Res November 2002 30 21 4634 42 PMC 135794 nbsp PMID 12409453 doi 10 1093 nar gkf587 Baohua Liu Shrestha Ghosh Xi Yang Huiling Zheng Xinguang Liu Zimei Wang Guoxiang Jin Bojian Zheng Brian K Kennedy Yousin Suh Matt Kaeberlein Karl Tryggvason Zhongjun Zhou Resveratrol rescues SIRT1 dependent adult stem cell decline and alleviates progeroid features in laminopathy based progeria Cell Metabolism 2012 12 05 16 6 738 750 2019 05 26 ISSN 1932 7420 PMID 23217256 doi 10 1016 j cmet 2012 11 007 原始内容存档于2017 09 11 延伸阅读 编辑Gruenbaum Y Wilson KL Harel A et al Review nuclear lamins structural proteins with fundamental functions J Struct Biol 2000 129 2 3 313 23 PMID 10806082 doi 10 1006 jsbi 2000 4216 引文格式1维护 显式使用等标签 link Worman HJ Courvalin JC The inner nuclear membrane J Membr Biol 2000 177 1 1 11 PMID 10960149 doi 10 1007 s002320001096 Burke B Mounkes LC Stewart CL The nuclear envelope in muscular dystrophy and cardiovascular diseases Traffic 2002 2 10 675 83 PMID 11576443 doi 10 1034 j 1600 0854 2001 21001 x Mounkes LC Burke B Stewart CL The A type lamins nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases Trends Cardiovasc Med 2001 11 7 280 5 PMID 11709282 doi 10 1016 S1050 1738 01 00126 8 Vigouroux C Magre J Desbois Mouthon C et al Major insulin resistance syndromes clinical and physiopathological aspects J Soc Biol 2002 195 3 249 57 PMID 11833462 引文格式1维护 显式使用等标签 link Helbling Leclerc A Bonne G Schwartz K Emery Dreifuss muscular dystrophy Eur J Hum Genet 2002 10 3 157 61 PMID 11973618 doi 10 1038 sj ejhg 5200744 Burke B Stewart CL Life at the edge the nuclear envelope and human disease Nat Rev Mol Cell Biol 2002 3 8 575 85 PMID 12154369 doi 10 1038 nrm879 Novelli G D Apice MR The strange case of the lumper lamin A C gene and human premature ageing Trends in molecular medicine 2004 9 9 370 5 PMID 13129702 doi 10 1016 S1471 4914 03 00162 X Pasotti M Repetto A Pisani A Arbustini E Diseases associated with lamin A C gene defects what the clinical cardiologist ought to know Italian heart journal Supplement official journal of the Italian Federation of Cardiology 2004 5 2 98 111 PMID 15080529 Al Shali KZ Hegele RA Laminopathies and atherosclerosis Arterioscler Thromb Vasc Biol 2005 24 9 1591 5 PMID 15205220 doi 10 1161 01 ATV 0000136392 59656 8b Garg A Cogulu O Ozkinay F et al A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia J Clin Endocrinol Metab 2005 90 9 5259 64 PMID 15998779 doi 10 1210 jc 2004 2560 引文格式1维护 显式使用等标签 link Lees Miller SP Dysfunction of lamin A triggers a DNA damage response and cellular senescence DNA Repair Amst 2006 5 2 286 9 PMID 16344005 doi 10 1016 j dnarep 2005 10 007 Donadille B Lascols O Capeau J Vigouroux C Etiological investigations in apparent type 2 diabetes when to search for lamin A C mutations Diabetes Metab 2006 31 6 527 32 PMID 16357800 doi 10 1016 S1262 3636 07 70227 6 Young SG Meta M Yang SH Fong LG Prelamin 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premature aging disease Hutchinson Gilford progeria syndrome Nat Med April 2005 11 4 440 5 PMC 1351119 nbsp PMID 15750600 doi 10 1038 nm1204 外部链接 编辑Bird Thomas D Charcot Marie Tooth Neuropathy Type 2 30 January 2014 2014 06 20 PMID 20301462 NBK1285 原始内容存档于2020 04 17 In Pagon RA Bird TD Dolan CR et al 编 GeneReviews Internet Seattle WA University of Washington Seattle 1993 2014 06 20 原始内容存档于2020 03 28 请检查 date 中的日期值 帮助 引文格式1维护 显式使用等标签 link Sparks Susan Quijano Roy Susana Harper Amy Rutkowski Anne Gordon Erynn Hoffman Eric P Pegoraro Elena Congenital Muscular Dystrophy Overview 23 August 2012 2014 06 20 PMID 20301468 NBK1291 原始内容存档于2020 08 04 In GeneReviews Hershberger Ray E Morales Ana LMNA Related Dilated Cardiomyopathy 19 September 2013 2014 06 20 PMID 20301717 NBK1674 原始内容存档于2019 02 17 In GeneReviews OMIM Cardiomyopathy Dilated 1A CMD1A 115200 OMIM LAMIN A C LMNA 150330 Pegoraro Elena Hoffman Eric P Limb Girdle Muscular Dystrophy Overview 30 August 2012 2014 06 20 PMID 20301582 NBK1408 原始内容存档于2020 11 14 In GeneReviewsGeneReviews NCBI NIH UW entry on 页面存档备份 存于互联网档案馆 Bonne Gisele Leturcq France Yaou Rabah Ben Emery Dreifuss Muscular Dystrophy 17 January 2013 2014 06 20 PMID 20301609 NBK1436 原始内容存档于2020 12 01 In GeneReviews Gordon Leslie B Brown W Ted Collins Francis S Hutchinson Gilford Progeria Syndrome 6 January 2011 2014 06 20 PMID 20301300 NBK1121 原始内容存档于2020 11 05 In GeneReviews Corchado Johnny Cruz Smith Richard JH Dense Deposit Disease Membranoproliferative Glomerulonephritis Type II 19 May 2011 2014 06 20 PMID 20301598 NBK1425 原始内容存档于2020 12 01 In GeneReviews 醫學主題詞表 MeSH LMNA protein human LOVD mutation database LMNA 页面存档备份 存于互联网档案馆 取自 https zh wikipedia org w index php title LMNA amp oldid 77440198, 维基百科，wiki，书籍，书籍，图书馆，

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