LMNA
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2023/07/03 00:01 UTC 版)
LMNAは、ヒトではLMNA遺伝子にコードされるタンパク質である。ラミンA/Cとしても知られ[5][6][7]、ラミンAやラミンCはこのLMNA遺伝子から発現する。ラミンA/Cはラミンファミリーに属する。
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160789 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028063 - Ensembl, May 2017
- ^ Human PubMed Reference:
- ^ Mouse PubMed Reference:
- ^ “Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C”. J Biol Chem 268: 16321–6. (1993). PMID 8344919.
- ^ “Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10”. Somat. Cell Mol. Genet. 19 (2): 203–8. (March 1993). doi:10.1007/BF01233534. PMID 8511676.
- ^ “Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization”. Genomics 32 (3): 474–8. (March 1996). doi:10.1006/geno.1996.0146. PMID 8838815.
- ^ “Entrez Gene: LMNA lamin A/C”. 2020年5月27日閲覧。
- ^ Structural and functional organization of the nuclear matrix. Berezney, Ronald., Jeon, Kwang W.. San Diego: Academic Press. (1995). ISBN 0-12-364566-2. OCLC 646758974
- ^ “Molecular ageing in progeroid syndromes: Hutchinson–Gilford progeria syndrome as a model”. Immun Ageing 6: 4. (2009). doi:10.1186/1742-4933-6-4. PMC 2674425. PMID 19379495.
- ^ “A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome”. Eur J Hum Genet 20 (11): 1134–40. (2012). doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
- ^ “Human laminopathies: nuclei gone genetically awry”. Nat. Rev. Genet. 7 (12): 940–52. (December 2006). doi:10.1038/nrg1906. PMID 17139325.
- ^ “The laminopathies: a clinical review”. Clin. Genet. 70 (4): 261–74. (October 2006). doi:10.1111/j.1399-0004.2006.00677.x. PMID 16965317.
- ^ “LMNA Gene - GeneCards | LMNA Protein | LMNA Antibody”. www.genecards.org. 2020年5月28日閲覧。
- ^ “Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy”. Am J Med Genet A 146A (8): 1049–1054. (2008). doi:10.1002/ajmg.a.32259. PMID 18348272.
- ^ “Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy”. Hum. Mol. Genet. 9 (1): 109–12. (2002). doi:10.1093/hmg/9.1.109. PMID 10587585.
- ^ “A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome”. Eur J Hum Genet 20 (11): 1134–40. (2012). doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
- ^ “Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation”. J Clin Endocrinol Metab 93 (12): 4617–4623. (2008). doi:10.1210/jc.2008-0123. PMC 2626450. PMID 18796515.
- ^ “A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia”. J. Clin. Endocrinol. Metab. 90 (9): 5259–64. (2005). doi:10.1210/jc.2004-2560. PMID 15998779.
- ^ “A dual role for A-type lamins in DNA double-strand break repair”. Cell Cycle 10 (15): 2549–60. (2011). doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
- ^ “DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome”. Curr. Opin. Cell Biol. 34: 75–83. (2015). doi:10.1016/j.ceb.2015.05.007. PMC 4522337. PMID 26079711.
- ^ “Genomic instability in laminopathy-based premature aging”. Nat. Med. 11 (7): 780–5. (2005). doi:10.1038/nm1266. PMID 15980864.
- ^ “Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening”. Biochemistry 39 (12): 3185–91. (March 2000). doi:10.1021/bi992664v. PMID 10727209.
- ^ “Emerin interacts in vitro with the splicing-associated factor, YT521-B”. Eur. J. Biochem. 270 (11): 2459–66. (June 2003). doi:10.1046/j.1432-1033.2003.03617.x. PMID 12755701.
- ^ “Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts”. Biochem. Biophys. Res. Commun. 303 (3): 764–70. (April 2003). doi:10.1016/S0006-291X(03)00415-7. PMID 12670476.
- ^ “Interaction between emerin and nuclear lamins”. J. Biochem. 129 (2): 321–7. (February 2001). doi:10.1093/oxfordjournals.jbchem.a002860. PMID 11173535.
- ^ “Direct interaction between emerin and lamin A”. Biochem. Biophys. Res. Commun. 267 (3): 709–14. (January 2000). doi:10.1006/bbrc.1999.2023. PMID 10673356.
- ^ “Prenylated prelamin A interacts with Narf, a novel nuclear protein”. J. Biol. Chem. 274 (42): 30008–18. (October 1999). doi:10.1074/jbc.274.42.30008. PMID 10514485.
- ^ “A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies”. Hum. Mol. Genet. 11 (7): 769–77. (April 2002). doi:10.1093/hmg/11.7.769. PMID 11929849.
- ^ “Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein”. Mol. Biol. Cell 13 (12): 4401–13. (December 2002). doi:10.1091/mbc.E02-07-0450. PMC 138642. PMID 12475961.
- ^ “Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins”. J. Cell Sci. 113 (19): 3473–84. (October 2000). PMID 10984438.
- ^ “In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C”. Nucleic Acids Res. 30 (21): 4634–42. (November 2002). doi:10.1093/nar/gkf587. PMC 135794. PMID 12409453.
- ^ “Resveratrol Rescues SIRT1-Dependent Adult Stem Cell Decline and Alleviates Progeroid Features in Laminopathy-Based Progeria”. Cell Metabolism 16 (6): 738–750. (2012). doi:10.1016/j.cmet.2012.11.007. PMID 23217256.
[続きの解説]
- LMNAのページへのリンク
