LMNB1 Gene

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1		Dean Liu	+ 572 word(s)	572	2020-12-15 07:59:43

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Liu, D. LMNB1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4432 (accessed on 20 September 2026).

Liu D. LMNB1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4432. Accessed September 20, 2026.

Liu, Dean. "LMNB1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4432 (accessed September 20, 2026).

Liu, D. (2020, December 23). LMNB1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4432

Liu, Dean. "LMNB1 Gene." Encyclopedia. Web. 23 December, 2020.

LMNB1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/lmnb1

Lamin B1

genes

References

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum MolGenet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034.Erratum in: Hum Mol Genet. 2017 Oct 1;26(19):3868.
Ferrera D, Canale C, Marotta R, Mazzaro N, Gritti M, Mazzanti M, Capellari S, Cortelli P, Gasparini L. Lamin B1 overexpression increases nuclear rigidity inautosomal dominant leukodystrophy fibroblasts. FASEB J. 2014 Sep;28(9):3906-18.doi: 10.1096/fj.13-247635.
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, GuipponiM, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomaldominant adult-onset demyelinating leukodystrophy (ADLD). Hum Mol Genet. 2015 Jun1;24(11):3143-54. doi: 10.1093/hmg/ddv065.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S,Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B,Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G,Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomaldominant leukodystrophy provides insights into duplication mechanisms andallele-specific expression. Hum Mutat. 2013 Aug;34(8):1160-71. doi:10.1002/humu.22348.
Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ,Huang EJ, Ptáček LJ, Fu YH. Lamin B1 mediates cell-autonomous neuropathology in aleukodystrophy mouse model. J Clin Invest. 2013 Jun;123(6):2719-29. doi:10.1172/JCI66737.
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K,Ptácek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23.Feb;39(2):276.
Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y,Estécio MR, Lin K, Chen J, He RR, Gong P, Rigatti LH, Dupree J, Bayır H, KaganVE, Casaccia P, Padiath QS. Defects of Lipid Synthesis Are Linked to theAge-Dependent Demyelination Caused by Lamin B1 Overexpression. J Neurosci. 2015Aug 26;35(34):12002-17. doi: 10.1523/JNEUROSCI.1668-15.2015.

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Update Date: 23 Dec 2020

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