LMNA

LMNA
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1IFR, 1IVT, 1X8Y, 2XV5, 2YPT, 3GEF, 3V4Q, 3V4W, 3V5B
Identifikatori
Aliasi	LMNA
Vanjski ID-jevi	OMIM: 150330 MGI: 96794 HomoloGene: 41321 GeneCards: LMNA
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	156,140,081 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	88,417,263 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• structural molecule activity; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje identičnih proteina;
Ćelijska komponenta	• Jedarna lamina; • citosol; • nuclear speck; • lamin filament; • perinuklearno područje citoplazme; • Intermedijarni filament; • jedro; • GO:0005578 Vanćelijski matriks; • Jedarna membrana; • nukleoplazma; • nuclear envelope;
Biološki proces	• regulation of cell migration; • nucleus organization; • establishment or maintenance of microtubule cytoskeleton polarity; • negative regulation of release of cytochrome c from mitochondria; • negative regulation of extrinsic apoptotic signaling pathway; • muscle organ development; • regulation of protein localization to nucleus; • IRE1-mediated unfolded protein response; • mitotic nuclear membrane disassembly; • protein localization to nucleus; • mitotic nuclear membrane reassembly; • ventricular cardiac muscle cell development; • cellular response to hypoxia; • GO:1901313 positive regulation of gene expression; • negative regulation of mesenchymal cell proliferation; • nuclear envelope organization; • negative regulation of cell population proliferation; • regulation of telomere maintenance; • negative regulation of cardiac muscle hypertrophy in response to stress; • protein import into nucleus; • regulation of protein stability; • positive regulation of histone H3-K9 trimethylation;
	Izvori:Amigo / QuickGO
Ortolozi
	4000
	16905
	ENSG00000160789
	ENSMUSG00000028063
	P02545
	P48678
NM_001257374; NM_001282624; NM_001282625; NM_001282626; NM_005572;
	NM_170707; NM_170708
	NM_001002011; NM_001111102; NM_019390
NP_001244303; NP_001269553; NP_001269554; NP_001269555; NP_005563;
	NP_733821; NP_733822
	NP_001002011; NP_001104572; NP_062263
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

LMNA, poznat i kao lamin A/C je protein koji je kod ljudi kodiran genom LMNA.^[5]^[6]^[7] Lamin A/C pripada porodici laminskih proteina.

Funkcija uredi

Biogeneza lamina A u normalnim ćelijama i neuspjeh u stvaranju zrelog lamina A u progeriji Hutchinson-Gilfordovog sindroma^[8]

U postavci nedostatka ZMPSTE24, ne dolazi do završnog koraka obrade lamina, što rezultira akumulacijom farnezil-prelamina A. U Hutchinson-Gilfordovom progerijskom sindromu, delecija 50 aminokiselina u prelaminu A (aminokiseline 607–656) uklanja mjesto za drugo endoproteolsko cijepanje. Slijedom toga, ne stvara se zreli lamin A, a u ćelijama se nakuplja farnezilirani mutant prelamin A (progerin).^[9] Jedarna lamina sastoji se od dvodimenzijske matrice proteina, koja se nalazi pored unutrašnje jedarne membrane. Porodica laminskih proteina čine matriks i u evoluciji visoko su konzervirani. Tokom mitoze, matrica lamina se reverzibilno rastavlja jer su lamin proteini fosforilirani. Smatra se da su proteini lamina uključeni u jedarnu stabilnost, hromatinsku strukturu i ekspresiju gena[]. Lamini kičmenjaka sastoje se od dva tipa, A i B. Kroz alternativno spajanje, ovaj gen kodira tri izoforme lamina tipa A.^[10]

U ranoj fazi mitoze, faktor podsticanja sazrijevanja (skraćeno MPF, također nazvan faktor koji promovira mitozu ili faktor koji promovira M-fazu) fosforilira specifične ostatke serina u sva tri jedarna lamina, uzrokujući depolimerizaciju srednjih laminskih vlakana. Fosforilirani dimeri lamina B ostaju povezani sa jedarnom membranom, preko njihovog izoprenilskog sidra. Lamin A je na jedrovu membranu usmjeren izoprenilnom grupom, ali se cijepa nedugo nakon dolaska na membranu. Ostaje sa njom povezan tokom interakcije između proteina i proteina, kao i drugih proteina povezanih s membranom, kao što je LAP1. Depolimerizacija nuklearnih lamina dovodi do raspada jedarne ovojnice. Tranfekcijski eksperimenti pokazuju da je fosforilacija ljudskog lamina A potrebna za depolimerizaciju lamina, a time i za rastavljanje jedarne ovojnice, koja se obično javlja rano u mitozi.

Klinički značaj uredi

Divlji tip (lijevo) i mutirani (desni) oblik Ig-nabora lamina A (LMNA, PDB: 1IFR).
Uobičajeno, arginin 527 (plavi) formira most soli sa glutamatom 537 (magenta), ali supstitucija R527L rezultira prekidom ove interakcije (leucin je prekratak da bi mogao doći do glutamata).
Modeli su predstavljeni u površinskom (gornjem) i crtanom (donjem) prikazu.^[11]

Mutacije u genu LMNA povezane su s nekoliko bolesti, uključujući Emery-Dreifussovu mišićnu distrofiju, porodičnu parcijalnu lipodistrofiju, mišićnu distrofiju udovi-pojas, proširenu kardiomiopatiju Charcot-Marie-Toothovu bolest i restriktivnu dermopatiju. Skraćena verzija lamina A, poznata kao progerin, uzrokuje Hutchinson-Gilford progerijski sindrom.^[12]^[13] Do danas poznato je preko 1.400 polimorfizama pojedinačnih nukleotida [1]. Mogu se očitovati u promjenama na iRNK, spajanju ili u proteinima (npr. Arg471Cys,^[14] Arg482Gln,^[15] Arg527Leu,^[11] Arg527Cys,^[16] Ala529Val ^[17] ) level.

Oštećenje DNK uredi

Oštećenja DNK mogu se popraviti ili homologmom rekombinacijom (HR) ili nehomolognim spajanjem krajeva (NHEJ). LMNA promovira genetičku stabilnost, održavanjem nivoa proteina koji imaju ključne uloge u HR i NHEJ.^[18]^[19] Mišje ćelije kojima nedostaje sazrijevanje prelamina A povećavaju oštećenja DNK i aberacije hromosoma i pokazuju povećanu osjetljivost na agense koji oštećuju DNK.^[20] U progeriji, neadekvatnost popravka DNK, zbog neispravnog LMNA, može uzrokovati obilježja preranog starenja (vidi teorija starenja oštećenjem DNK)

Interakcije uredi

Pokazano je da LMNA ima interakcije sa:

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160789 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028063 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lin F, Worman HJ (1993). "Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C". J Biol Chem. 268 (22): 16321–6. PMID 8344919.
^ Kamat AK, Rocchi M, Smith DI, Miller OJ (mart 1993). "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. doi:10.1007/BF01233534. PMID 8511676.
^ Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB (mart 1996). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics. 32 (3): 474–8. doi:10.1006/geno.1996.0146. PMID 8838815.
^ Buxboim, A.; Swift, J.; Irianto, J.; Spinler, K. R.; Dingal, P. C.; Athirasala, A.; Kao, Y. R.; Cho, S.; Harada, T.; Shin, J. W.; Discher, D. E. (2014). "Matrix elasticity regulates lamin-A,C phosphorylation and turnover with feedback to actomyosin". Current Biology. 24 (16): 1909–17. doi:10.1016/j.cub.2014.07.001. PMC 4373646. PMID 25127216.
^ Coutinho HD, Falcão-Silva VS, Gonçalves GF, da Nóbrega RB (2009). "Molecular ageing in progeroid syndromes: Hutchinson–Gilford progeria syndrome as a model". Immun Ageing. 6: 4. doi:10.1186/1742-4933-6-4. PMC 2674425. PMID 19379495.
^ "Entrez Gene: LMNA lamin A/C".
^ ^a ^b Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "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. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
^ Capell BC, Collins FS (decembar 2006). "Human laminopathies: nuclei gone genetically awry". Nat. Rev. Genet. 7 (12): 940–52. doi:10.1038/nrg1906. PMID 17139325.
^ Rankin J, Ellard S (oktobar 2006). "The laminopathies: a clinical review". Clin. Genet. 70 (4): 261–74. doi:10.1111/j.1399-0004.2006.00677.x. PMID 16965317.
^ Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A (2008). "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. doi:10.1002/ajmg.a.32259. PMID 18348272.
^ Cao H, Hegele RA (2002). "Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy". Hum. Mol. Genet. 9 (1): 109–12. doi:10.1093/hmg/9.1.109. PMID 10587585.
^ Agarwal AK, Kazachkova I, Ten S, Garg A (2008). "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. doi:10.1210/jc.2008-0123. PMC 2626450. PMID 18796515.
^ Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK (2005). "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia". J. Clin. Endocrinol. Metab. 90 (9): 5259–64. doi:10.1210/jc.2004-2560. PMID 15998779.
^ Redwood AB, Perkins SM, Vanderwaal RP, Feng Z, Biehl KJ, Gonzalez-Suarez I, Morgado-Palacin L, Shi W, Sage J, Roti-Roti JL, Stewart CL, Zhang J, Gonzalo S (2011). "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549–60. doi:10.4161/cc.10.15.16531. PMC 3180193. PMID 21701264.
^ Gonzalo S, Kreienkamp R (2015). "DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome". Curr. Opin. Cell Biol. 34: 75–83. doi:10.1016/j.ceb.2015.05.007. PMC 4522337. PMID 26079711.
^ Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266. PMID 15980864.
^ Tang K, Finley RL, Nie D, Honn KV (mart 2000). "Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening". Biochemistry. 39 (12): 3185–91. doi:10.1021/bi992664v. PMID 10727209.
^ Wilkinson FL, Holaska JM, Zhang Z, Sharma A, Manilal S, Holt I, Stamm S, Wilson KL, Morris GE (juni 2003). "Emerin interacts in vitro with the splicing-associated factor, YT521-B" (PDF). Eur. J. Biochem. 270 (11): 2459–66. doi:10.1046/j.1432-1033.2003.03617.x. PMID 12755701. Arhivirano s originala (PDF), 16. 2. 2020. Pristupljeno 5. 3. 2021.
^ Lattanzi G, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, Squarzoni S, Maraldi NM (april 2003). "Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts". Biochem. Biophys. Res. Commun. 303 (3): 764–70. doi:10.1016/S0006-291X(03)00415-7. PMID 12670476.
^ Sakaki M, Koike H, Takahashi N, Sasagawa N, Tomioka S, Arahata K, Ishiura S (februar 2001). "Interaction between emerin and nuclear lamins". J. Biochem. 129 (2): 321–7. doi:10.1093/oxfordjournals.jbchem.a002860. PMID 11173535.
^ Clements L, Manilal S, Love DR, Morris GE (januar 2000). "Direct interaction between emerin and lamin A". Biochem. Biophys. Res. Commun. 267 (3): 709–14. doi:10.1006/bbrc.1999.2023. PMID 10673356.
^ Barton RM, Worman HJ (oktobar 1999). "Prenylated prelamin A interacts with Narf, a novel nuclear protein". J. Biol. Chem. 274 (42): 30008–18. doi:10.1074/jbc.274.42.30008. PMID 10514485.
^ Lloyd DJ, Trembath RC, Shackleton S (april 2002). "A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies". Hum. Mol. Genet. 11 (7): 769–77. doi:10.1093/hmg/11.7.769. PMID 11929849.
^ Markiewicz E, Dechat T, Foisner R, Quinlan RA, Hutchison CJ (decembar 2002). "Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein". Mol. Biol. Cell. 13 (12): 4401–13. doi:10.1091/mbc.E02-07-0450. PMC 138642. PMID 12475961.
^ Dechat T, Korbei B, Vaughan OA, Vlcek S, Hutchison CJ, Foisner R (oktobar 2000). "Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins". J. Cell Sci. 113 (19): 3473–84. PMID 10984438.
^ Dreuillet C, Tillit J, Kress M, Ernoult-Lange M (novembar 2002). "In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C". Nucleic Acids Res. 30 (21): 4634–42. doi:10.1093/nar/gkf587. PMC 135794. PMID 12409453.
^ Liu B, Ghosh S, Yang X, Zheng H, Liu X, Wang Z, Jin G, Zheng B, Kennedy BK, Suh Y, Kaeberlein M, Tryggvason K, Zhou Z (2012). "Resveratrol Rescues SIRT1-Dependent Adult Stem Cell Decline and Alleviates Progeroid Features in Laminopathy-Based Progeria". Cell Metabolism. 16 (6): 738–750. doi:10.1016/j.cmet.2012.11.007. PMID 23217256.

Dopunska literatura uredi

Gruenbaum Y, Wilson KL, Harel A, Goldberg M, Cohen M (2000). "Review: nuclear lamins--structural proteins with fundamental functions". J. Struct. Biol. 129 (2–3): 313–23. doi:10.1006/jsbi.2000.4216. PMID 10806082.
Worman HJ, Courvalin JC (2000). "The inner nuclear membrane". J. Membr. Biol. 177 (1): 1–11. doi:10.1007/s002320001096. PMID 10960149.
Burke B, Mounkes LC, Stewart CL (2002). "The nuclear envelope in muscular dystrophy and cardiovascular diseases". Traffic. 2 (10): 675–83. doi:10.1034/j.1600-0854.2001.21001.x. PMID 11576443.
Mounkes LC, Burke B, Stewart CL (2001). "The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases". Trends Cardiovasc. Med. 11 (7): 280–5. doi:10.1016/S1050-1738(01)00126-8. PMID 11709282.
Vigouroux C, Magré J, Desbois-Mouthon C, Lascols O, Cherqui G, Caron M, Capeau J (2002). "[Major insulin resistance syndromes: clinical and physiopathological aspects]". J. Soc. Biol. 195 (3): 249–57. doi:10.1051/jbio/2001195030249. PMID 11833462.
Helbling-Leclerc A, Bonne G, Schwartz K (2002). "Emery–Dreifuss muscular dystrophy". Eur. J. Hum. Genet. 10 (3): 157–61. doi:10.1038/sj.ejhg.5200744. PMID 11973618.
Burke B, Stewart CL (2002). "Life at the edge: the nuclear envelope and human disease". Nat. Rev. Mol. Cell Biol. 3 (8): 575–85. doi:10.1038/nrm879. PMID 12154369.
Novelli G, D'Apice MR (2004). "The strange case of the "lumper" lamin A/C gene and human premature ageing". Trends in Molecular Medicine. 9 (9): 370–5. doi:10.1016/S1471-4914(03)00162-X. PMID 13129702.
Pasotti M, Repetto A, Pisani A, Arbustini E (2004). "[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know]". Italian Heart Journal Supplement. 5 (2): 98–111. PMID 15080529.
Al-Shali KZ, Hegele RA (2005). "Laminopathies and atherosclerosis". Arterioscler. Thromb. Vasc. Biol. 24 (9): 1591–5. doi:10.1161/01.ATV.0000136392.59656.8b. PMID 15205220.
Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK (2005). "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia". J. Clin. Endocrinol. Metab. 90 (9): 5259–64. doi:10.1210/jc.2004-2560. PMID 15998779.
Lees-Miller SP (2006). "Dysfunction of lamin A triggers a DNA damage response and cellular senescence". DNA Repair (Amst.). 5 (2): 286–9. doi:10.1016/j.dnarep.2005.10.007. PMID 16344005.
Donadille B, Lascols O, Capeau J, Vigouroux C (2006). "Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?". Diabetes Metab. 31 (6): 527–32. doi:10.1016/S1262-3636(07)70227-6. PMID 16357800.
Young SG, Meta M, Yang SH, Fong LG (2007). "Prelamin A farnesylation and progeroid syndromes". J. Biol. Chem. 281 (52): 39741–5. doi:10.1074/jbc.R600033200. PMID 17090536.
Halaschek-Wiener J, Brooks-Wilson A (2007). "Progeria of stem cells: stem cell exhaustion in Hutchinson–Gilford progeria syndrome" (PDF). J. Gerontol. A Biol. Sci. Med. Sci. 62 (1): 3–8. doi:10.1093/gerona/62.1.3. PMID 17301031. Arhivirano s originala (PDF), 5. 11. 2012. Pristupljeno 5. 3. 2021.
Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI (2007). "Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature". Br. J. Dermatol. 156 (6): 1308–14. doi:10.1111/j.1365-2133.2007.07897.x. PMID 17459035.
Sliwińska MA (2007). "[The role of lamins and mutations of LMNA gene in physiological and premature aging] Polish". Postepy Biochem. 53 (1): 46–52. PMID 17718387.
Genschel J, Schmidt HH (decembar 2000). "Mutations in the LMNA gene encoding lamin A/C". Hum. Mutat. 16 (6): 451–9. doi:10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9. PMID 11102973.
Scaffidi P, Misteli T (april 2005). "Reversal of the cellular phenotype in the premature aging disease Hutchinson–Gilford progeria syndrome". Nat. Med. 11 (4): 440–5. doi:10.1038/nm1204. PMC 1351119. PMID 15750600.
Bird, T. D.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Charcot–Marie–Tooth Neuropathy Type 2". PMID 20301462. journal zahtijeva |journal= (pomoć)
Sparks, S. E.; Quijano-Roy, S.; Harper, A.; Rutkowski, A.; Gordon, E.; Hoffman, E. P.; Pegoraro, E.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Congenital Muscular Dystrophy Overview". PMID 20301468. journal zahtijeva |journal= (pomoć)
Hershberger, R. E.; Morales, A.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "LMNA-Related Dilated Cardiomyopathy". PMID 20301717. journal zahtijeva |journal= (pomoć)
Pegoraro, E.; Hoffman, E. P.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Limb-Girdle Muscular Dystrophy Overview". PMID 20301582. journal zahtijeva |journal= (pomoć)
Bonne, G.; Leturcq, F.; Ben Yaou, R.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Emery–Dreifuss Muscular Dystrophy". PMID 20301609. journal zahtijeva |journal= (pomoć)
Gordon, L. B.; Brown, W. T.; Collins, F. S.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Hutchinson–Gilford Progeria Syndrome". PMID 20301300. journal zahtijeva |journal= (pomoć)
Martín, B.; Smith RJH; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II". PMID 20301598. journal zahtijeva |journal= (pomoć)

Vanjski linkovi uredi

OMIM: Cardiomyopathy, Dilated, 1A; CMD1A -115200
OMIM: LAMIN A/C; LMNA -150330
LMNA protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
LOVD mutation database: LMNA
GeneCards for LMNA
Laminopathy Information Site for Lay Public

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160789 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028063 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Lin F, Worman HJ (1993). "Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C". J Biol Chem. 268 (22): 16321–6. PMID 8344919.

[pmid8511676-6] Kamat AK, Rocchi M, Smith DI, Miller OJ (mart 1993). "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. doi:10.1007/BF01233534. PMID 8511676.

[pmid8838815-7] Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB (mart 1996). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics. 32 (3): 474–8. doi:10.1006/geno.1996.0146. PMID 8838815.

[8] Buxboim, A.; Swift, J.; Irianto, J.; Spinler, K. R.; Dingal, P. C.; Athirasala, A.; Kao, Y. R.; Cho, S.; Harada, T.; Shin, J. W.; Discher, D. E. (2014). "Matrix elasticity regulates lamin-A,C phosphorylation and turnover with feedback to actomyosin". Current Biology. 24 (16): 1909–17. doi:10.1016/j.cub.2014.07.001. PMC 4373646. PMID 25127216.

[pmid19379495-9] Coutinho HD, Falcão-Silva VS, Gonçalves GF, da Nóbrega RB (2009). "Molecular ageing in progeroid syndromes: Hutchinson–Gilford progeria syndrome as a model". Immun Ageing. 6: 4. doi:10.1186/1742-4933-6-4. PMC 2674425. PMID 19379495.

[10] "Entrez Gene: LMNA lamin A/C".

[A_novel_homozygous_p.Arg527Leu_LMNA-11] Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "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. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.

[pmid17139325-12] Capell BC, Collins FS (decembar 2006). "Human laminopathies: nuclei gone genetically awry". Nat. Rev. Genet. 7 (12): 940–52. doi:10.1038/nrg1906. PMID 17139325.

[pmid16965317-13] Rankin J, Ellard S (oktobar 2006). "The laminopathies: a clinical review". Clin. Genet. 70 (4): 261–74. doi:10.1111/j.1399-0004.2006.00677.x. PMID 16965317.

[14] Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A (2008). "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. doi:10.1002/ajmg.a.32259. PMID 18348272.

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