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Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies

, MBBS, PHD
Pages 547-553 | Received 15 Aug 2016, Accepted 10 Nov 2016, Published online: 17 Nov 2016

References

  • Gruenbaum Y, Foisner R. Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation. Annu Rev Biochem 2015; 84:131-64; PMID:25747401; http://dx.doi.org/10.1146/annurev-biochem-060614-034115
  • Shimi T, Pfleghaar K, Kojima S, Pack CG, Solovei I, Goldman AE, Adam SA, Shumaker DK, Kinjo M, Cremer T, et al. The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription. Genes Dev 2008; 22:3409-21; PMID:19141474; http://dx.doi.org/10.1101/gad.1735208
  • Stancheva I, Schirmer EC. Nuclear envelope: connecting structural genome organization to regulation of gene expression. Adv Exp Med Biol 2014; 773:209-44; http://dx.doi.org/10.1007/978-1-4899-8032-8_10
  • Guelen L, Pagie L, Brasset E, Meuleman W, Faza MB, Talhout W, Eussen BH, de Klein A, Wessels L, de Laat W, et al. Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature 2008; 453:948-51; PMID:18463634; http://dx.doi.org/10.1038/nature06947
  • Ghosh S, Zhou Z. Genetics of aging, progeria and lamin disorders. Curr Opin Genetics Dev 2014; 26C:41-6; PMID:25005744; http://dx.doi.org/10.1016/j.gde.2014.05.003
  • Haithcock E, Dayani Y, Neufeld E, Zahand AJ, Feinstein N, Mattout A, Gruenbaum Y, Liu J. Age-related changes of nuclear architecture in Caenorhabditis elegans. Proc Natl Acad Sci U S A 2005; 102:16690-5; http://dx.doi.org/10.1073/pnas.0506955102
  • Chojnowski A, Ong PF, Dreesen O. Nuclear lamina remodelling and its implications for human disease. Cell Tissue Res 2015; 360:621-31; PMID:25532872; http://dx.doi.org/10.1007/s00441-014-2069-4
  • Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 2006; 38:1114-23; PMID:16951681; http://dx.doi.org/10.1038/ng1872
  • Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat 2013; 34:1160-71; PMID:23649844; http://dx.doi.org/10.1002/humu.22348
  • Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, et al. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). Hum Mol Genetics 2015; 24:3143-54; PMID:25701871; http://dx.doi.org/10.1093/hmg/ddv065
  • Nahhas N, Sabet Rasekh P, Vanderver A, Padiath Q. Autosomal Dominant Leukodystrophy with Autonomic Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, et al., eds. GeneReviews(R). Seattle (WA), 1993
  • Padiath QS, Fu YH. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods Cell Biol 2010; 98:337-57; http://dx.doi.org/10.1016/S0091-679X(10)98014-X
  • Young SG, Jung HJ, Lee JM, Fong LG. Nuclear lamins and neurobiology. Mol Cell Biol 2014; 34:2776-85; PMID:24842906; http://dx.doi.org/10.1128/MCB.00486-14
  • Vergnes L, Peterfy M, Bergo MO, Young SG, Reue K. Lamin B1 is required for mouse development and nuclear integrity. Proc Natl Acad Sci U S A 2004; 101:10428-33; PMID:15232008; http://dx.doi.org/10.1073/pnas.0401424101
  • Coffinier C, Jung HJ, Nobumori C, Chang S, Tu Y, Barnes RH, 2nd, Yoshinaga Y, de Jong PJ, Vergnes L, Reue K, et al. Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons. Mol Biol Cell 2011; 22:4683-93; http://dx.doi.org/10.1091/mbc.E11-06-0504
  • Giacomini C, Mahajani S, Ruffilli R, Marotta R, Gasparini L. Lamin B1 protein is required for dendrite development in primary mouse cortical neurons. Mol Biol Cell 2016; 27:35-47; PMID:26510501; http://dx.doi.org/10.1091/mbc.E15-05-0307
  • Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptacek LJ, et al. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J Clin Invest 2013; 123:2719-29; PMID:23676464; http://dx.doi.org/10.1172/JCI66737
  • Klugmann M, Schwab MH, Puhlhofer A, Schneider A, Zimmermann F, Griffiths IR, Nave KA. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997; 18:59-70; PMID:9010205; http://dx.doi.org/10.1016/S0896-6273(01)80046-5
  • Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y, Estecio MR, Lin K, Chen J, et al. Defects of lipid synthesis are linked to the age-dependent demyelination caused by Lamin B1 overexpression. J Neurosci 2015; 35:12002-17; PMID:26311780; http://dx.doi.org/10.1523/JNEUROSCI.1668-15.2015
  • Melberg A, Hallberg L, Kalimo H, Raininko R. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 2006; 27:904-11
  • Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 2009; 30:328-35; PMID:18945794; http://dx.doi.org/10.3174/ajnr.A1354
  • Shimi T, Butin-Israeli V, Adam SA, Hamanaka RB, Goldman AE, Lucas CA, Shumaker DK, Kosak ST, Chandel NS, Goldman RD. The role of nuclear lamin B1 in cell proliferation and senescence. Genes Dev 2011; 25:2579-93; PMID:22155925; http://dx.doi.org/10.1101/gad.179515.111
  • Barascu A, Le Chalony C, Pennarun G, Genet D, Imam N, Lopez B, Bertrand P. Oxidative stress induces an ATM-independent senescence pathway through p38 MAPK-mediated lamin B1 accumulation. EMBO J 2012; 31:1080-94; http://dx.doi.org/10.1038/emboj.2011.492
  • Crawford AH, Tripathi RB, Richardson WD, Franklin RJ. Developmental origin of oligodendrocyte lineage cells determines response to demyelination and susceptibility to age-associated functional decline. Cell Rep 2016; pii: S2211-1247(16)30358-8; PMID:27149850
  • Shen S, Sandoval J, Swiss VA, Li J, Dupree J, Franklin RJ, Casaccia-Bonnefil P. Age-dependent epigenetic control of differentiation inhibitors is critical for remyelination efficiency. Nat Neurosci 2008; 11:1024-34; PMID:19160500; http://dx.doi.org/10.1038/nn.2172
  • Chrast R, Saher G, Nave KA, Verheijen MH. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models. J Lipid Res 2011; 52:419-34; http://dx.doi.org/10.1194/jlr.R009761
  • Dupree JL, Suzuki K, Popko B. Galactolipids in the formation and function of the myelin sheath. Microscopy Res Technique 1998; 41:431-40; PMID:9672425; http://dx.doi.org/10.1002/(SICI)1097-0029(19980601)41:5%3c431::AID-JEMT9%3e3.0.CO;2-S
  • Duband-Goulet I, Woerner S, Gasparini S, Attanda W, Konde E, Tellier-Lebegue C, Craescu CT, Gombault A, Roussel P, Vadrot N, et al. Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins. Exp Cell Res 2011; 317:2800-13; PMID:21993218; http://dx.doi.org/10.1016/j.yexcr.2011.09.012
  • Ferrera D, Canale C, Marotta R, Mazzaro N, Gritti M, Mazzanti M, Capellari S, Cortelli P, Gasparini L. Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. FASEB J 2014; 28(9):3906-18; PMID:24858279
  • Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, et al. Messenger RNA processing is altered in autosomal dominant leukodystrophydagger. Hum Mol Genetics 2015; 24:2746-56; http://dx.doi.org/10.1093/hmg/ddv034

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