Genomes and Genes
Gene Symbol: Lmna
Description: lamin A
Alias: Dhe, prelamin-A/C, lamin C, lamin-A/C
Publications111 found, 100 shown here
- Genomic instability in laminopathy-based premature agingBaohua Liu
Department of Biochemistry, University of Hong Kong, 21 Sassoon Road, Hong Kong
Nat Med 11:780-5. 2005..Our results indicate that unprocessed prelamin A and truncated lamin A act dominant negatively to perturb DNA damage response and repair, resulting in genomic instability which might contribute to laminopathy-based premature aging...
- SUV39h- and A-type lamin-dependent telomere nuclear rearrangementRadka Uhlírová
Institute of Biophysics, Academy of Sciences of the Czech Republic, v v i, Kralovopolska 135, CZ 612 65 Brno, Czech Republic
J Cell Biochem 109:915-26. 2010..This nuclear arrangement was influenced by deficiency of the histone methyltransferase SUV39h, LMNA deficiency, and the histone deacetylase inhibitor Trichostatin A (TSA)...
- DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature deathAnne T Bertrand
INSERM, UMRS_974, Paris F 75013, France
Hum Mol Genet 21:1037-48. 2012The LMNA gene encodes lamin A/C intermediate filaments that polymerize beneath the nuclear membrane, and are also found in the nucleoplasm in an uncharacterized assembly state...
- Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in miceK Furukawa
Department of Biology, School of Science, Nagoya University, Japan
Exp Cell Res 212:426-30. 1994..of a new 52-kDa A-type lamin from mouse pachytene spermatocytes, termed lamin C2 because of its similarities with lamin C. It has a sequence identical to that of lamin C except that the N-terminal segment, containing the head and the ..
- SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in miceKai Lei
Institute of Developmental Biology and Molecular Medicine, School of Life Science, Fudan University, Shanghai, China
Proc Natl Acad Sci U S A 106:10207-12. 2009..These results clearly indicate that SUN1 and SUN2 function critically in skeletal muscle cells for Syne-1 localization at the NE, which is essential for proper myonuclear positioning...
- Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defectMartin O Bergo
Gladstone Institute of Cardiovascular Disease, University of California, San Francisco, CA 94141 9100, USA
Proc Natl Acad Sci U S A 99:13049-54. 2002..Muscle weakness in Zmpste24(-/-) mice can be reasonably ascribed to defective processing of prelamin A, but the brittle bone phenotype suggests a broader role for Zmpste24 in mammalian biology...
- Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelopeJosé María González
Laboratory of Vascular Biology, Department of Molecular and Cellular Pathology and Therapy, Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientificas CSIC, Valencia, Spain
J Cell Biol 183:653-66. 2008..Thus, NE-bound ERK1/2 functions as a molecular switch for rapid mitogen-dependent AP-1 activation through phosphorylation-induced release of preexisting c-Fos from its inhibitory interaction with lamin A/C...
- Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathiesPaul R Odgren
Department of Cell Biology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America
PLoS ONE 5:e9959. 2010..b>LMNA mutations in humans cause a wide range of phenotypes, collectively termed laminopathies...
- A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutationShao H Yang
Department of Medicine, Division of Cardiology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA, and Department of Medicine, Wallenberg Laboratory, Sahlgrenska University Hospital, Goteborg, Sweden
J Clin Invest 116:2115-21. 2006..These studies suggest that FTIs could be useful for treating humans with HGPS...
- A progeroid syndrome in mice is caused by defects in A-type laminsLeslie C Mounkes
Cancer and Developmental Biology Laboratory, National Cancer Institute, Frederick, Maryland 21702, USA
Nature 423:298-301. 2003..Here we describe the derivation of mice carrying an autosomal recessive mutation in the lamin A gene (Lmna) encoding A-type lamins, major components of the nuclear lamina...
- Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient miceLoren G Fong
Department of Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 101:18111-6. 2004..We further hypothesized that Zmpste24(-/-) mice with half-normal levels of prelamin A (Zmpste24(-/-) mice with one Lmna knockout allele) would be subjected to less toxicity and be protected from disease...
- Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathiesJos L V Broers
Department of Moecular Cell Biology, Cardiovascular Research Institute Maastricht, University Maastricht, PO Box 616, NL 6200 MD Maastricht, The Netherlands
Hum Mol Genet 13:2567-80. 2004..Partial rescue of the phenotype by transfection with either lamin A or lamin C prevented gross nuclear disruption, as seen in MEF-/- cells, but was unable to fully restore mechanical stiffness ..
- A-type lamins are essential for TGF-beta1 induced PP2A to dephosphorylate transcription factorsJ H Van Berlo
Experimental and Molecular Cardiology, Cardiovascular Research Institute Maastricht, The Netherlands
Hum Mol Genet 14:2839-49. 2005..Our findings implicate lamin A/C in control of gene activity downstream of TGF-beta1, via nuclear phosphatases such as PP2A. This biological function provides a novel explanation for the observed mesenchymal dysfunction in laminopathies...
- Differentiation of C2C12 myoblasts expressing lamin A mutated at a site responsible for Emery-Dreifuss muscular dystrophy is improved by inhibition of the MEK-ERK pathway and stimulation of the PI3-kinase pathwayCatherine Favreau
Institut Jacques Monod, UMR7592, CNRS et Universités Paris 6 et 7, Paris Cedex 05, France
Exp Cell Res 314:1392-405. 2008....
- Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear laminaK Weber
Max Planck Institute for Biophysical Chemistry, Department of Biochemistry, Goettingen, FRG
FEBS Lett 257:411-4. 1989..While retained by lamin B, which is present in all cells, they are lost by maturation from lamin A, which probably acts only as an additional lamina constituent in differentiated cells...
- Genomic structure of the mouse A-type lamin gene locus encoding somatic and germ cell-specific laminsN Nakajima
Department of Chemistry II, Faculty of Science, Hokkaido University, Sapporo, Japan
FEBS Lett 365:108-14. 1995..Divergence of the two somatic cell-type lamins (A and C) is formally accounted for by differential selection of poly(A) sites together with lamin A-specific splicing...
- Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophyT Sullivan
Advanced BioScience Laboratories Basic Research Program, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702, USA
J Cell Biol 147:913-20. 1999..Mice lacking the A-type lamins exhibit tissue-specific alterations to their nuclear envelope integrity and emerin distribution. In skeletal and cardiac muscles, this is manifest as a dystrophic condition related to EDMD...
- The nuclear envelope, muscular dystrophy and gene expressionK L Wilson
Dept of Cell Biology and Anatomy, The Johns Hopkins University School of Medicine, 725 N Wolfe Street, Baltimore, MD 21205, USA
Trends Cell Biol 10:125-9. 2000..This article discusses these and other recent results in the wider context of nuclear envelope function, as a framework for thinking about the possible ways in which defects in nuclear envelope proteins can lead to disease...
- Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)A Muchir
INSERM UR523, Institut de Myologie, GH Pitié Salpétrière, 75013 Paris, France
Hum Mol Genet 9:1453-9. 2000..The disease gene of AD-EDMD is LMNA which encodes lamins A/C, two proteins of the nuclear envelope...
- Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblastsGiovanna Lattanzi
ITOI CNR, Unit of Bologna, c o IOR, Via di Barbiano, 1 10, I 40136 Bologna, Italy
Biochem Biophys Res Commun 303:764-70. 2003..These data provide evidence of a modulation of emerin-actin interaction in muscle cells, possibly through differentiation-related stimuli...
- Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivoIan Holt
Biochemistry Group, North East Wales Institute, Wrexham LL11 2AW, UK
J Cell Sci 116:3027-35. 2003..Subtle effects on the function of the lamina-emerin complex in EDMD/CMD1A patients might be responsible for the skeletal and/or cardiac muscle phenotype...
- Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient miceVesna Nikolova
Molecular Cardiology Program, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia
J Clin Invest 113:357-69. 2004..a group of disorders caused by mutations in the LMNA gene that encodes the nuclear lamina proteins, lamin A and lamin C; their pathophysiological basis is unknown...
- Lamin A/C deficiency causes defective nuclear mechanics and mechanotransductionJan Lammerding
Biological Engineering Division, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
J Clin Invest 113:370-8. 2004Mutations in the lamin A/C gene (LMNA) cause a variety of human diseases including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy, and Hutchinson-Gilford progeria syndrome...
- Disruption of spermatogenesis in mice lacking A-type laminsManfred Alsheimer
Department of Cell and Developmental Biology, Biocenter, University of Wurzburg, Am Hubland, 97074 Wurzburg, Germany
J Cell Sci 117:1173-8. 2004Nuclear lamins are structural protein components of the nuclear envelope. Mutations in LMNA, the gene coding for A-type lamins, result in several human hereditary diseases, the laminopathies, which include Emery-Dreifuss muscular ..
- A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradationBrett R Johnson
Massachusetts General Hospital Cancer Center, Charlestown, MA 02129, USA
Proc Natl Acad Sci U S A 101:9677-82. 2004..Both pRB levels and localization are restored upon reintroduction of lamin A. Lmna(-/-) cells resemble Rb(-/-) cells, exhibiting altered cell-cycle properties and reduced capacity to undergo cell-..
- Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathiesTakuro Arimura
Inserm UR582, Institut de Myologie, GH Pitié Salpétrière, Paris, France
Hum Mol Genet 14:155-69. 2005Laminopathies are a group of disorders caused by mutations in the LMNA gene encoding A-type lamins, components of the nuclear lamina...
- Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiationIndumathi Mariappan
Centre for Cellular and Molecular Biology, Hyderabad, India
Mol Biol Cell 16:1948-60. 2005..Our results suggest that the reorganization of internal lamins in muscle cells is mediated by key regulators of the muscle differentiation program...
- Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in miceLeslie C Mounkes
National Cancer Institute, Cancer and Developmental Biology Laboratory, Frederick, PO Box B, Building 539, Room 121A, MD 21702, USA
Hum Mol Genet 14:2167-80. 2005..The A-type lamins, nuclear intermediate filament proteins encoded by the LMNA gene, are basic components of the nuclear lamina...
- Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutationShao H Yang
Division of Cardiology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 102:10291-6. 2005..syndrome (HGPS), a progeroid syndrome in children, is caused by mutations in LMNA (the gene for prelamin A and lamin C) that result in the deletion of 50 aa within prelamin A...
- Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activationIgnacio Varela
Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
Nature 437:564-8. 2005Zmpste24 (also called FACE-1) is a metalloproteinase involved in the maturation of lamin A (Lmna), an essential component of the nuclear envelope...
- LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type laminsAndreas Brachner
Department of Medical Biochemistry, Max F Perutz Laboratories, Vienna Biocenter, Medical University of Vienna, Dr Bohrgasse 9 3, A 1030 Vienna, Austria
J Cell Sci 118:5797-810. 2005..LEM2 binds to the lamin C tail in vitro...
- Coupling of the nucleus and cytoplasm: role of the LINC complexMelissa Crisp
Department of Anatomy and Cell Biology, University of Florida, Gainesville, FL 32610
J Cell Biol 172:41-53. 2006..2005), support a model in which Sun proteins tether nesprins in the ONM via interactions spanning the PNS. In this way, Sun proteins and nesprins form a complex that links the nucleoskeleton and cytoskeleton (the LINC complex)...
- Dependence of diffusional mobility of integral inner nuclear membrane proteins on A-type laminsCecilia Ostlund
Department of Medicine, College of Physicians and Surgeons, Columbia University, Room 10 509, 630 West 168th Street, New York, New York 10032, USA
Biochemistry 45:1374-82. 2006..We expressed these proteins fused to green fluorescent protein in embryonic fibroblasts from wild-type mice and Lmna -/- mice, which lack A-type lamins...
- Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiationRichard L Frock
Department of Biochemistry, Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA
Genes Dev 20:486-500. 2006Mutations within LMNA, encoding A-type nuclear lamins, are associated with multiple tissue-specific diseases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystrophy (LGMD1B)...
- SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeletonFarhana Haque
Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, United Kingdom
Mol Cell Biol 26:3738-51. 2006..Our data provide evidence of a physical nuclear-cytoskeletal connection that is likely to be a key mechanism in nuclear-cytoplasmic communication and regulation of nuclear position...
- Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrestRyan T Nitta
Department of Biochemistry, University of Washington, Seattle, WA 98195, USA
Mol Cell Biol 26:5360-72. 2006Mutations in the LMNA gene, which encodes all A-type lamins, including lamin A and lamin C, cause a variety of tissue-specific degenerative diseases termed laminopathies. Little is known about the pathogenesis of these disorders...
- Lamins A and C but not lamin B1 regulate nuclear mechanicsJan Lammerding
Cardiovascular Division, Department of Medicine, and Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02139, USA
J Biol Chem 281:25768-80. 2006..e. "lamin C-only" cells), cells lacking wild-type lamin B1, and wild-type cells...
- Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophyAntoine Muchir
Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street New York, NY 10032, USA
J Clin Invest 117:1282-93. 2007Mutations in LMNA, which encodes nuclear Lamins A and C cause diseases affecting various organs, including the heart...
- Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophyAntoine Muchir
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York 10032, USA
Hum Mol Genet 16:1884-95. 2007..Mutations in EMD, encoding emerin, and LMNA, encoding A-type lamins, respectively, cause X-linked and autosomal dominant EDMD...
- Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migrationJerry S H Lee
Department of Chemical and Biomolecular Engineering, Johns Hopkins University, Baltimore, Maryland, USA
Biophys J 93:2542-52. 2007..Here we show that lamin A/C deficiency in mouse embryonic fibroblasts (Lmna(-/-) MEFs) diminishes the ability of these cells to polarize at the edge of a wound and significantly reduces cell ..
- Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system diseaseCordula M Wolf
Department of Cardiology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
J Mol Cell Cardiol 44:293-303. 2008Mutations in the lamin A/C (LMNA) gene, which encodes nuclear membrane proteins, cause a variety of human conditions including dilated cardiomyopathy (DCM) with associated cardiac conduction system disease...
- Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skinYuexia Wang
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Hum Mol Genet 17:2357-69. 2008Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by point mutation in LMNA encoding A-type nuclear lamins...
- Premature aging in mice activates a systemic metabolic response involving autophagy inductionGuillermo Mariño
Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
Hum Mol Genet 17:2196-211. 2008..However, the chronic activation of this catabolic pathway may turn an originally intended pro-survival strategy into a pro-aging mechanism and could contribute to the systemic degeneration and weakening observed in these progeroid mice...
- Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathiesYu Qian Zhang
Department of Molecular and Cellular Biochemistry, Chandler Medical Center, University of Kentucky, Lexington, KY 40536, USA
J Cell Biol 182:35-9. 2008..These results suggest that SUMO modification is important for normal lamin A function and implicate an involvement for altered sumoylation in the E203G/E203K lamin A cardiomyopathies...
- Effect of lamin A/C knockdown on osteoblast differentiation and functionRahima Akter
Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, Quebec, Canada
J Bone Miner Res 24:283-93. 2009..In summary, our results indicate that lamin A/C is a new factor needed for osteoblast differentiation that plays an important role in the cellular mechanisms of age-related bone loss...
- Loss of nucleoplasmic LAP2alpha-lamin A complexes causes erythroid and epidermal progenitor hyperproliferationNana Naetar
Max F Perutz Laboratories, Medical University of Vienna and University of Vienna, Dr Bohr Gasse 9, A 1030 Vienna, Austria
Nat Cell Biol 10:1341-8. 2008....
- Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type laminsAntoine Muchir
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Hum Mol Genet 18:241-7. 2009..related disorders with dilated cardiomyopathy and variable skeletal muscle involvement are caused by mutations in LMNA, which encodes A-type nuclear lamins...
- Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cellsAntoine Muchir
Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10 floor, Room 508, New York, NY 10032, USA
Biochim Biophys Acta 1792:75-81. 2009..Here, we tested the hypothesis that reducing A-type lamins and emerin in cultured cells activate ERK signaling...
- Novel roles for A-type lamins in telomere biology and the DNA damage response pathwayIgnacio Gonzalez-Suarez
Department of Radiation Oncology, Washington University School of Medicine, St Louis, MO 63108, USA
EMBO J 28:2414-27. 2009..Mutations in the LMNA gene are linked to a variety of degenerative disorders termed laminopathies, whereas changes in the expression of ..
- A perinuclear actin cap regulates nuclear shapeShyam B Khatau
Department of Chemical and Biomolecular Engineering, The Johns Hopkins University, 3400 North Charles Street, Baltimore, MD 21218, USA
Proc Natl Acad Sci U S A 106:19017-22. 2009..These results highlight the interplay between cell shape, nuclear shape, and cell adhesion mediated by the perinuclear actin cap...
- Attenuated hypertrophic response to pressure overload in a lamin A/C haploinsufficiency mouseMihaela Cupesi
Cardiovascular Division, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, 65 Landsdowne St, Cambridge, MA 02139, USA
J Mol Cell Cardiol 48:1290-7. 2010..mutations cause approximately 30% of all dilated cardiomyopathy cases, with autosomal dominant mutations in the LMNA gene accounting for more than one third of these...
- Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processesFarhana Haque
Department of Biochemistry, University of Leicester, Leicester LE1 9HN, United Kingdom
J Biol Chem 285:3487-98. 2010..We propose that these different perturbations in lamin A-SUN protein interactions may underlie the opposing effects of EDMD and HGPS mutations on nuclear and cellular mechanics...
- An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeriaBrandon S J Davies
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 19:2682-94. 2010..mice harboring a mutant Lmna allele (LmnanPLAO) that yields exclusively non-farnesylated prelamin A (and no lamin C). These mice had no evidence of progeria but succumbed to cardiomyopathy...
- Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeriaLidia Hernandez
Cancer and Developmental Biology Laboratory, NCI, Frederick, MD 21702, USA
Dev Cell 19:413-25. 2010..These results establish a functional link between the nuclear envelope/lamina and the cell surface/ECM and may provide insights into the role of Wnt signaling and the ECM in aging...
- Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathyVesna Nikolova-Krstevski
Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010, Australia
J Mol Cell Cardiol 50:479-86. 2011..Our aim was to determine whether changes in nesprin-1 and actin might contribute to DCM in homozygous Lmna knockout (Lmna(-/-)) mice...
- Attenuated anabolic response to exercise in lamin A/C haploinsufficient miceGustavo Duque
Ageing Bone Research Program, Nepean Clinical School, University of Sydney, Penrith, NSW 2751, Australia
Bone 49:412-8. 2011..Three-month-old female lamin A/C haploinsufficient (Lmna(+/-)) mice were exposed to strenuous maximal exercise protocol (2 sessions/week, 40 min/session) for 6 weeks...
- Post-natal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type laminsNard Kubben
Heart Failure Research Center and Department of Cardiology, Maastricht University Medical Centre, The Netherlands
Nucleus 2:195-207. 2011A-type lamins are a major component of the nuclear lamina. Mutations in the LMNA gene, which encodes the A-type lamins A and C, cause a set of phenotypically diverse diseases collectively called laminopathies...
- Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathiesWinnok H De Vos
Department of Molecular Cell Biology, CARIM School for Cardiovascular Diseases, Maastricht University Medical Center, PO Box 616, NL 6200 MD Maastricht, The Netherlands
Hum Mol Genet 20:4175-86. 2011..ruptures, which were absent in normal fibroblasts, could be mimicked by selective knockdown as well as knockout of LMNA and were accompanied by the loss of cellular compartmentalization...
- Stem cell depletion in Hutchinson-Gilford progeria syndromeYlva Rosengardten
Department of Biosciences and Nutrition, Center for Biosciences, Karolinska Institutet, Karolinska University Hospital, Huddinge, Novum, Stockholm, Sweden
Aging Cell 10:1011-20. 2011..Here, we show that induced expression of the most common HGPS mutation (LMNA c.1824C>T, p...
- Lamin A/C deficiency is associated with fat infiltration of muscle and boneJessica Tong
Ageing Bone Research Program, Sydney Medical School Nepean, The University of Sydney, Penrith, NSW 2750, Australia
Mech Ageing Dev 132:552-9. 2011..Four-week-old lamin A/C null (Lmna(-/-)), heterozygous (Lmna(+/-)) and wild type (WT) mice were sacrificed and their mid-thigh analyzed for fat ..
- Mouse B-type lamins are required for proper organogenesis but not by embryonic stem cellsYoungjo Kim
Department of Embryology, Carnegie Institution for Science, Baltimore, MD 21218, USA
Science 334:1706-10. 2011..Thus, our studies not only disprove several prevailing views of lamin-Bs but also establish a foundation for redefining the function of the nuclear lamina in the context of tissue building and homeostasis...
- Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNAHea Jin Jung
Molecular Biology Institute and Department of Medicine and Human Genetics, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 109:E423-31. 2012..Western blot and immunohistochemistry studies showed that lamin C is abundant in the mouse brain, whereas lamin A and its precursor prelamin A are restricted to endothelial cells ..
- Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathiesChia Yen Chen
National Institute of Allergy and Infectious Diseases, The National Institutes of Health, Bethesda, MD 20892, USA
Cell 149:565-77. 2012Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS)...
- Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical propertiesEva Schmidt
Department of Biosciences and Nutrition, Center for Biosciences, Karolinska Institutet, Huddinge SE 14183, Sweden
J Biol Chem 287:33512-22. 2012..we describe the development of a tissue-specific mouse model that overexpresses the most common HGPS mutation (LMNA, c.1824C>T, p.G608G) in osteoblasts...
- A truncated lamin A in the Lmna -/- mouse line: implications for the understanding of laminopathiesDaniel Jahn
Department of Cell and Developmental Biology, Biocenter, University of Würzburg Würzburg, Germany
Nucleus 3:463-74. 2012..syndromes, collectively termed laminopathies, turned out to be caused by various, distinct mutations in the human LMNA gene...
- Nuclear lamina defects cause ATM-dependent NF-κB activation and link accelerated aging to a systemic inflammatory responseFernando G Osorio
Departamento de Bioquimica y Biologia Molecular, Instituto Universitario de Oncologia, Universidad de Oviedo, Oviedo, Spain
Genes Dev 26:2311-24. 2012..of high levels of proinflammatory cytokines in two different mouse models of accelerated aging (Zmpste24(-/-) and Lmna(G609G/G609G) mice)...
- Lamin A/C is expressed in pluripotent mouse embryonic stem cellsMélanie A Eckersley-Maslin
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY USA
Nucleus 4:53-60. 2013..Our results demonstrate ESCs do express low levels of Lamin A/C, thus models linking pluripotency and nuclear dynamics with the absence of Lamin A/C need to be revisited...
- LBR and lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiationIrina Solovei
Department of Biology II, Center for Integrated Protein Science Munich CIPSM, Ludwig Maximilians University Munich, Grosshadernerstrasse 2, 82152 Planegg Martinsried, Germany
Cell 152:584-98. 2013..in different tissues and species, including mice with mutations in the lamin B receptor (Lbr) and lamin A (Lmna) genes that encode nuclear envelope (NE) proteins...
- Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal couplingMonika Zwerger
Department of Medicine, Brigham and Women s Hospital Harvard Medical School, Boston, MA 02115, USA
Hum Mol Genet 22:2335-49. 2013..Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies...
- Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiationJoe Swift
Molecular and Cell Biophysics Laboratory, University of Pennsylvania, Philadelphia, PA 19104, USA
Science 341:1240104. 2013..Tissue stiffness and stress thus increase lamin-A levels, which stabilize the nucleus while also contributing to lineage determination. ..
- Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseAnnachiara De Sandre-Giovannoli
INSERM U491, Génétique Médicale et Développement, Faculte de Medecine de la Timone, Marseille, France
Am J Hum Genet 70:726-36. 2002..A unique homozygous mutation in LMNA (which encodes lamin A/C, a component of the nuclear envelope) was identified in all affected members and in ..
- Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defectHu Wang
Sino German Laboratory for Molecular Medicine, FuWai Cardiovascular Hospital and Cardiovascular Institute, Peking Union Medical College and Chinese Academy of Medical Sciences, 167 Beilishi Road, 100037 Beijing, China
Biochem Biophys Res Commun 344:17-24. 2006..The nuclear membrane structure was disrupted and heterochromatin was aggregated aberrantly in the nucleus of the HEK293 cells stably transfected with mutated lamin A/C gene as determined by transmission electron microscopy...
- Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophyAlexandre Mejat
National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Cell Biol 184:31-44. 2009The LMNA gene encodes lamins A and C, two intermediate filament-type proteins that are important determinants of interphase nuclear architecture...
- Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regenerationGisela Melcon
Research Center for Genetic Medicine, Children s National Medical Center, Washington DC, USA
Hum Mol Genet 15:637-51. 2006..dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene. Here, we describe the derivation of mice lacking emerin in an attempt to derive a mouse model for EDMD1...
- Prelamin A and lamin A appear to be dispensable in the nuclear laminaLoren G Fong
Department of Medicine Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
J Clin Invest 116:743-52. 2006Lamin A and lamin C, both products of Lmna, are key components of the nuclear lamina. In the mouse, a deficiency in both lamin A and lamin C leads to slow growth, muscle weakness, and death by 6 weeks of age...
- Identification of novel keratinocyte-secreted peptides dermokine-alpha/-beta and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1Takeshi Matsui
KAN Research Institute, Inc, Shimogyo ku, Kyoto 600 8815, Japan
Genomics 84:384-97. 2004..These findings indicated that dermokine-alpha/-beta, suprabasin, and Kdap are secreted from the spinous layer of the stratified epithelia and that these genes form a novel gene complex on the chromosome...
- Mouse models of laminopathiesHaoyue Zhang
Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA
Aging Cell 12:2-10. 2013..Over 180 disease-causing mutations, termed 'laminopathies,' have been mapped throughout LMNA, the gene for A-type lamins in humans...
- Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeriaBaohua Liu
Department of Biochemistry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong
Cell Metab 16:738-50. 2012Abnormal splicing of LMNA gene or aberrant processing of prelamin A results in progeroid syndrome. Here we show that lamin A interacts with and activates SIRT1...
- The differential expression of lamin epitopes during mouse spermatogenesisS B Moss
Department of Physiology and Biophysics, Harvard Medical School, Boston, Massachusetts
Mol Reprod Dev 34:164-74. 1993..These data demonstrate that germ cells contain lamin B throughout spermatogenesis, even during meiosis and spermiogenesis when the nuclear periphery lacks a distinct fibrous lamina...
- Cyclin A2 mediates cardiomyocyte mitosis in the postmitotic myocardiumHina W Chaudhry
Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
J Biol Chem 279:35858-66. 2004..These results reveal a previously unrecognized critical role for cyclin A2 in mediating cardiomyocyte mitosis, a role that may significantly impact upon clinical treatment of damaged myocardium...
- Cell nuclei spin in the absence of lamin b1Julie Y Ji
Cardiovascular Division, Brigham and Women s Hospital, Cambridge, Massachusetts 02139, USA
J Biol Chem 282:20015-26. 2007..These findings demonstrate that lamin B1 serves a fundamental role within the nuclear envelope: anchoring the nucleus to the cytoskeleton...
- Role of caspases in cleavage of lamin A/C and PARP during apoptosis in macrophages infected with a periodontopathic bacteriumToshinori Okinaga
Department of Health Promotion, Division of Infections and Molecular Biology, Kyushu Dental College, 2 6 1 Manazuru, Kokurakita ku, Kitakyushu 803 8580, Japan
J Med Microbiol 56:1399-404. 2007..Taken together, these results suggest that activation of caspases and the subsequent cleavage of lamin A/C and PARP are involved in the morphological changes of apoptotic macrophages infected with A. actinomycetemcomitans...
- Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutationShao H Yang
Department of Medicine Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA
Biochim Biophys Acta 1781:36-9. 2008..a protein farnesyltransferase inhibitor (FTI) improved several disease phenotypes in mice with a HGPS mutation (Lmna(HG/+)). Here, we investigated the impact of an FTI on the survival of Lmna(HG/+) mice...
- Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylatedShao H Yang
Department of Medicine, UCLA David Geffen School of Medicine, Los Angeles, California, USA
J Clin Invest 118:3291-300. 2008....
- Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cellsVittoria Cenni
Department of Anatomy and Histology and CIPro Proteomics Centre, University of Modena and Reggio Emilia, Via del Pozzo 71, I 41100 Modena, Italy
J Proteome Res 7:4727-35. 2008..Together, our data demonstrate that lamin A/C is a novel signaling target of Akt, and implicate Akt phosphorylation of lamin A/C in the correct function of the nuclear lamina...
- Prelamin A is involved in early steps of muscle differentiationCristina Capanni
IGM CNR, Unit of Bologna, c o IOR, Via di Barbiano 1 10 I 40136 Bologna, Italy
Exp Cell Res 314:3628-37. 2008..Our data provide evidence for a critical role of the lamin A precursor in the early steps of muscle cell differentiation...
- Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathySuchitra Chandar
Molecular Cardiology Division, Victor Chang Cardiac Research Institute, 405 Liverpool St, PO Box 699, Darlinghurst NSW 2010, Australia
Circ Res 106:573-82. 2010Mutations in the LMNA gene, which encodes the nuclear lamina proteins lamin A and lamin C, are the most common cause of familial dilated cardiomyopathy (DCM)...
- Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytesRoger Lee
Department of Medicine, David Geffen School of Medicine, University of California, LA, Los Angeles, CA 90095, USA
Hum Mol Genet 19:1603-17. 2010..Like Fntb-deficient keratinocytes, Pggt1b-deficient keratinocytes did not proliferate in culture. Thus, both FTase and GGTase-I are required for the homeostasis of skin keratinocytes...
- Cell-extrinsic defective lymphocyte development in Lmna(-/-) miceJ Scott Hale
Department of Immunology, University of Washington, Seattle, Washington, United States of America
PLoS ONE 5:e10127. 2010Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies...
- Reorganization of the nuclear lamina and cytoskeleton in adipogenesisValerie L R M Verstraeten
Department of Dermatology, Maastricht University Medical Centre, P Debyelaan 25, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
Histochem Cell Biol 135:251-61. 2011..This dynamic reorganization of the nuclear lamina in adipogenesis is an important finding that may open up new venues for research in and treatment of obesity and nuclear lamina-associated lipodystrophy...
- Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblastsC Herbert Pratt
The Jackson Laboratory, Bar Harbor, Maine, United States of America
PLoS ONE 6:e18065. 2011Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; ..
- Decreased bone formation and osteopenia in lamin a/c-deficient miceWei Li
Ageing Bone Research Program, Nepean Clinical School, University of Sydney, Penrith, New South Wales, Australia
PLoS ONE 6:e19313. 2011..In this study, we used the lamin A/C null (Lmna⁻/⁻) mice to identify the role of lamin A/C in bone turnover and bone structure in vivo...
- A dual role for A-type lamins in DNA double-strand break repairAbena B Redwood
Radiation and Cancer Biology Division, Department of Radiation Oncology, Washington University School of Medicine, St Louis, MO, USA
Cell Cycle 10:2549-60. 2011..In addition, lamins-deficient tumor cells could represent a good target for radiation therapy...
- Splicing-directed therapy in a new mouse model of human accelerated agingFernando G Osorio
Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
Sci Transl Med 3:106ra107. 2011Hutchinson-Gilford progeria syndrome (HGPS) is caused by a point mutation in the LMNA gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called progerin...
- Nucleotide sequence of the full-length mouse lamin C cDNA and its deduced amino-acid sequenceW Riedel
Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg, F R G
Biochim Biophys Acta 1008:119-22. 1989..the entire coding region and several hundred base-pairs of its flanks for the mouse nuclear envelope protein lamin C mRNA...
- Nucleotide sequence of a mouse lamin A cDNA and its deduced amino acid sequenceN Nakajima
Department of Chemistry II, Faculty of Science, Hokkaido University, Sapporo, Japan
Biochim Biophys Acta 1171:311-4. 1993..part of the 5' sequence of our mouse lamin A clone was essentially identical with a previously reported mouse lamin C cDNA sequence, and the deduced C-terminal amino acid sequence shared strong homology with the human lamin A ..
- Characterization of adiposity and metabolism in Lmna-deficient miceDedra A Cutler
Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1770, USA
Biochem Biophys Res Commun 291:522-7. 2002..FPLD is caused by mutations in the LMNA gene, which encodes intermediate filaments of the nuclear lamina...
- Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophyMichal Vytopil
Institute of Molecular Genetics CNR, Via Abbiategrasso, 207, 27100, Pavia, Italy
Neuromuscul Disord 12:958-63. 2002..Mutations in the Lamin A/C (LMNA) gene are responsible for the autosomal dominant and the autosomal recessive forms...
- Formation of nuclear splicing factor compartments is independent of lamins A/CJaromira Vecerova
Department of Cell Biology, Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Institute of Cellular Biology and Pathology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
Mol Biol Cell 15:4904-10. 2004....
- Good news in the nuclear envelope: loss of lamin A might be a gainPaola Scaffidi
National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Invest 116:632-4. 2006..The identification of mutations in the nuclear envelope proteins lamin A and lamin C as the cause of a diverse group of human diseases has expanded our understanding of the lamin proteins from being ..
- The consequence of PRELP overexpression on skinJ Grover
Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
Matrix Biol 26:140-3. 2007..A connective tissue phenotype was observed in the skin, where the organization of collagen fibrils in the dermis was perturbed and the thickness of the hypodermal fat layer was diminished...
- Functional Analysis of LEM-domain Nuclear ProteinsKatherine Wilson; Fiscal Year: 2005..This work can be extended to humans to predict the molecular mechanisms of heart disease and muscular dystrophy caused by loss of emerin. ..
- ASCB Summer Meeting: Nuclear Architecture and DiseaseKatherine Wilson; Fiscal Year: 2005..The meeting will foster intense informal discussion in search of common principals and will stimulate interest and progress in this emerging 'post-genomic' field. ..
- The Role of Cyclin A in Cardiac DevelopmentHINA CHAUDHRY; Fiscal Year: 2006..abstract_text> ..
- REGULATION OF NUCLEAR ENVELOPE ASSEMBLY AND DISASSEMBLYKatherine Wilson; Fiscal Year: 2008..elegans; BAF-1 mutants will be tested for functional rescue of baf-1 null phenotypes and their affects on histone modifications at a specific BAF-1-regulated promoter. ..