Access the full text.
Sign up today, get DeepDyve free for 14 days.
S. Werner, A. Prahalad, Jieping Yang, J. Hock (2006)
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.Biochemical and biophysical research communications, 345 1
C. Rizzari, V. Conter (1996)
Rothmund-Thomson syndrome, malignant diseases, and treatment opportunities.Pediatric hematology and oncology, 13 2
A. Agarwal, J. Fryns, R. Auchus, A. Garg (2003)
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.Human molecular genetics, 12 16
Elena Castro, C. Ogburn, K. Hunt, R. Tilvis, J. Louhija, R. Penttinen, R. Erkkola, A. Panduro, Roberto Riestra, C. Piussan, S. Deeb, Lan Wang, S. Edland, G. Martin, J. Oshima (1999)
Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians.American journal of medical genetics, 82 5
B. Sarg, Elisavet Koutzamani, W. Helliger, I. Rundquist, H. Lindner (2002)
Postsynthetic Trimethylation of Histone H4 at Lysine 20 in Mammalian Tissues Is Associated with Aging*The Journal of Biological Chemistry, 277
M. Bergo, Bryant Gavino, J. Ross, W. Schmidt, C. Hong, L. Kendall, A. Mohr, M. Meta, H. Genant, Yebin Jiang, E. Wisner, N. Bruggen, R. Carano, S. Michaelis, S. Griffey, S. Young (2002)
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defectProceedings of the National Academy of Sciences of the United States of America, 99
Shurong Huang, Baomin Li, M. Gray, J. Oshima, I. Mian, J. Campisi (1998)
The premature ageing syndrome protein, WRN, is a 3′→5′ exonucleaseNature Genetics, 20
H. Worman, J. Courvalin (2004)
How do mutations in lamins A and C cause disease?The Journal of clinical investigation, 113 3
M. Măcriș, L. Krejci, Wendy Bussen, A. Shimamoto, P. Sung (2006)
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.DNA repair, 5 2
R. Geronemus (2010)
Treatment of the Cutaneous Vascular Component Of The othmund‐Thomson SyndromePediatric Dermatology, 13
N. Suzuki, A. Shimamoto, O. Imamura, J. Kuromitsu, S. Kitao, M. Goto, Y. Furuichi (1997)
DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system.Nucleic acids research, 25 15
C. Bartram, T. Koske‐Westphal, E. Passarge (1976)
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderrna pigmentosumAnnals of Human Genetics, 40
C. Adelfalk, H. Scherthan, M. Hirsch‐Kauffmann, M. Schweiger (2005)
Nuclear deformation characterizes Werner syndrome cellsCell Biology International, 29
H. Warner, F. Sierra (2003)
Models of accelerated ageing can be informative about the molecular mechanisms of ageing and/or age-related pathologyMechanisms of Ageing and Development, 124
Shurong Huang, Li-shan Chen, Nataliya Libina, Joel Janes, G. Martin, J. Campisi, J. Oshima (2005)
Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interferenceHuman Genetics, 118
I. Hickson (2003)
RecQ helicases: caretakers of the genomeNature Reviews Cancer, 3
N. Ellis, J. Groden, T. Ye, J. Straughen, D. Lennon, S. Ciocci, M. Proytcheva, J. German (1995)
The Bloom's syndrome gene product is homologous to RecQ helicasesCell, 83
L. Fong, J. Ng, M. Meta, Nathan Coté, Shao Yang, C. Stewart, T. Sullivan, A. Burghardt, S. Majumdar, K. Reue, M. Bergo, S. Young (2004)
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient miceProceedings of the National Academy of Sciences of the United States of America, 101
M. Prokocimer, A. Margalit, Y. Gruenbaum (2006)
The nuclear lamina and its proposed roles in tumorigenesis: projection on the hematologic malignancies and future targeted therapy.Journal of structural biology, 155 2
M. Mallampalli, G. Huyer, Pravin Bendale, M. Gelb, S. Michaelis (2005)
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.Proceedings of the National Academy of Sciences of the United States of America, 102 40
Sandy Chang, A. Multani, Noelia Cabrera, M. Naylor, P. Laud, D. Lombard, S. Pathak, L. Guarente, R. DePinho (2004)
Essential role of limiting telomeres in the pathogenesis of Werner syndromeNature Genetics, 36
T. Davis, D. Baird, M. Haughton, C. Jones, D. Kipling (2005)
Prevention of accelerated cell aging in Werner syndrome using a p38 mitogen-activated protein kinase inhibitor.The journals of gerontology. Series A, Biological sciences and medical sciences, 60 11
C. Navarro, A. Sandre-Giovannoli, R. Bernard, I. Boccaccio, A. Boyer, D. Geneviève, S. Hadj-Rabia, C. Gaudy-Marqueste, H. Smitt, Pierre Vabres, L. Faivre, A. Verloes, T. Essen, E. Flori, R. Hennekam, F. Beemer, N. Laurent, M. Merrer, P. Cau, N. Lévy (2004)
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Human molecular genetics, 13 20
J. Cadiñanos, I. Varela, C. López-Otín, J. Freije (2005)
From Immature Lamin to Premature Aging: Molecular Pathways and Therapeutic OpportunitiesCell Cycle, 4
S. Shackleton, D. Smallwood, P. Clayton, L. Wilson, A. Agarwal, A. Garg, R. Trembath (2005)
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotypeJournal of Medical Genetics, 42
G. Martin (2005)
Genetic Modulation of Senescent Phenotypes in Homo sapiensCell, 120
M. Kuningas, P. Slagboom, R. Westendorp, D. Heemst (2006)
Impact of genetic variations in the WRN gene on age related pathologies and mortalityMechanisms of Ageing and Development, 127
Michael Zastrow, S. Vlcek, K. Wilson (2004)
Proteins that bind A-type lamins: integrating isolated cluesJournal of Cell Science, 117
T. Arimura, A. Helbling-Leclerc, C. Massart, S. Varnous, F. Niel, E. Lacène, Y. Fromes, M. Toussaint, A. Mura, D. Keller, H. Amthor, R. Isnard, M. Malissen, K. Schwartz, G. Bonne (2005)
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.Human molecular genetics, 14 1
C. Yu, Junko Oshima, E. Wijsman, J. Nakura, Tetsuro Miki, Charles Piussan, S. Matthews, Ying-Hui Fu, John Mulligan, G. Martin, G. Schellenberg (1997)
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.American journal of human genetics, 60 2
Elena Castro, S. Edland, Lin Lee, C. Ogburn, S. Deeb, Greg Brown, A. Panduro, Roberto Riestra, R. Tilvis, J. Louhija, R. Penttinen, R. Erkkola, Lan Wang, G. Martin, J. Oshima (2000)
Polymorphisms at the Werner locus: II. 1074Leu/Phe, 1367Cys/Arg, longevity, and atherosclerosis.American journal of medical genetics, 95 4
Ruben Agrelo, W. Cheng, F. Setién, S. Ropero, J. Espada, M. Fraga, M. Herranz, M. Paz, M. Sanchez-Cespedes, M. Artiga, D. Guerrero, A. Castells, C. Kobbe, V. Bohr, M. Esteller (2006)
Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer.Proceedings of the National Academy of Sciences of the United States of America, 103 23
L. Fong, J. Ng, J. Lammerding, T. Vickers, M. Meta, Nathan Coté, Bryant Gavino, Xin Qiao, Sandy Chang, Stephanie Young, Shao Yang, C. Stewart, Richard Lee, C. Bennett, M. Bergo, S. Young (2006)
Prelamin A and lamin A appear to be dispensable in the nuclear lamina.The Journal of clinical investigation, 116 3
A. Sandre-Giovannoli, R. Bernard, P. Cau, C. Navarro, J. Amiel, I. Boccaccio, S. Lyonnet, C. Stewart, A. Munnich, M. Merrer, N. Lévy (2003)
Lamin A Truncation in Hutchinson-Gilford ProgeriaScience, 300
A. Sandre-Giovannoli, M. Chaouch, S. Kozlov, J. Vallat, M. Tazir, N. Kassouri, P. Szepetowski, T. Hammadouche, A. Vandenberghe, C. Stewart, D. Grid, N. Lévy (2002)
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 mouse.American journal of human genetics, 70 3
J. Broers, F. Ramaekers, G. Bonne, R. Yaou, C. Hutchison (2006)
Nuclear lamins: laminopathies and their role in premature ageing.Physiological reviews, 86 3
A. Machwe, Liren Xiao, J. Groden, S. Matson, D. Orren (2005)
RecQ Family Members Combine Strand Pairing and Unwinding Activities to Catalyze Strand Exchange*Journal of Biological Chemistry, 280
V. Bohr, E. Metter, J. Harrigan, C. Kobbe, Ji Liu, M. Gray, A. Majumdar, D. Wilson, M. Seidman (2004)
Werner syndrome protein 1367 variants and disposition towards coronary artery disease in Caucasian patientsMechanisms of Ageing and Development, 125
J. Svejstrup (2003)
Rescue of arrested RNA polymerase II complexesJournal of Cell Science, 116
C. Wees, J. Jansen, H. Vrieling, A. Laarse, A. Zeeland, L. Mullenders (2007)
Nucleotide excision repair in differentiated cells.Mutation research, 614 1-2
L. Ye, T. Miki, J. Nakura, J. Oshima, K. Kamino, H. Rakugi, H. Ikegami, J. Higaki, S. Edland, G. Martin, T. Ogihara (1997)
Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population.American journal of medical genetics, 68 4
R. Russell (2006)
Bisphosphonates: from bench to bedside.Annals of the New York Academy of Sciences, 1068
L. Mounkes, S. Kozlov, J. Rottman, C. Stewart (2005)
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.Human molecular genetics, 14 15
P. Mckinnon (2004)
ATM and ataxia telangiectasiaEMBO reports, 5
S. Wijnhoven, Esther Hoogervorst, Harm Waard, G. Horst, H. Steeg (2007)
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models.Mutation research, 614 1-2
A. Winter-Vann, P. Casey (2005)
Post-prenylation-processing enzymes as new targets in oncogenesisNature Reviews Cancer, 5
H. Gershon, D. Gershon (2001)
Critical assessment of paradigms in aging researchExperimental Gerontology, 36
J. Abdenur, W. Brown, Silvia Friedman, M. Smith, F. Lifshitz (1997)
Response to nutritional and growth hormone treatment in progeria.Metabolism: clinical and experimental, 46 8
Li-shan Chen, Shurong Huang, Lin Lee, Albert Davalos, R. Schiestl, J. Campisi, J. Oshima (2003)
WRN, the protein deficient in Werner syndrome, plays a critical structural role in optimizing DNA repairAging Cell, 2
I. Filesi, F. Gullotta, G. Lattanzi, M. D’Apice, C. Capanni, A. Nardone, M. Columbaro, G. Scarano, E. Mattioli, P. Sabatelli, N. Maraldi, S. Biocca, G. Novelli (2005)
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.Physiological genomics, 23 2
R. Goldman, D. Shumaker, M. Erdos, M. Eriksson, A. Goldman, L. Gordon, Y. Gruenbaum, S. Khuon, Melissa Mendez, R. Varga, F. Collins (2004)
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndromeProceedings of the National Academy of Sciences of the United States of America, 101
G. Martin, J. Oshima (2000)
Lessons from human progeroid syndromesNature, 408
J. Liao, U. Laufs (2005)
Pleiotropic effects of statins.Annual review of pharmacology and toxicology, 45
Jaan-Olle Andressoo, J. Hoeijmakers (2005)
Transcription-coupled repair and premature ageing.Mutation research, 577 1-2
C. Bachrati, R. Borts, I. Hickson (2006)
Mobile D-loops are a preferred substrate for the Bloom's syndrome helicaseNucleic Acids Research, 34
K. Kyng, A. May, T. Stevnsner, K. Becker, S. Kølvrå, V. Bohr (2005)
Gene expression responses to DNA damage are altered in human aging and in Werner SyndromeOncogene, 24
D. Corrigan, D. Kuszczak, Antonio Rusiñol, D. Thewke, C. Hrycyna, S. Michaelis, M. Sinensky (2005)
Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24.The Biochemical journal, 387 Pt 1
Lisa Wang, Anu Gannavarapu, C. Kozinetz, M. Levy, R. Lewis, M. Chintagumpala, Ramon Ruiz-Maldanado, J. Contreras-Ruiz, C. Cunniff, R. Erickson, D. Lev, M. Rogers, E. Zackai, S. Plon (2003)
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.Journal of the National Cancer Institute, 95 9
H. Lans, J. Hoeijmakers (2006)
Cell biology: Ageing nucleus gets out of shapeNature, 440
R. Groisman, J. Polanowska, I. Kuraoka, J. Sawada, M. Saijo, R. Drapkin, A. Kisselev, Kiyoji Tanaka, Y. Nakatani (2003)
The Ubiquitin Ligase Activity in the DDB2 and CSA Complexes Is Differentially Regulated by the COP9 Signalosome in Response to DNA DamageCell, 113
S. Kitao, A. Shimamoto, M. Goto, Robert Miller, W. Smithson, N. Lindor, Y. Furuichi (1999)
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndromeNature Genetics, 22
R. Chaganti, S. Schonberg, J. German (1974)
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.Proceedings of the National Academy of Sciences of the United States of America, 71 11
Andrea Basso, P. Kirschmeier, W. Bishop (2006)
Thematic review series: Lipid Posttranslational Modifications. Farnesyl transferase inhibitors Published, JLR Papers in Press, November 8, 2005.Journal of Lipid Research, 47
S. Hattori, M. Kasai, T. Namatame, Y. Hattori, K. Kasai (2004)
Pioglitazone treatment of insulin resistance in a patient with Werner's syndrome.Diabetes care, 27 12
J. Freije, Pilar Blay, A. Pendás, J. Cadiñanos, Piero Crespo, Carlos López-Otín (1999)
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.Genomics, 58 3
M. Columbaro, C. Capanni, E. Mattioli, G. Novelli, V. Parnaik, S. Squarzoni, N. Maraldi, G. Lattanzi (2005)
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatmentCellular and Molecular Life Sciences, 62
C. Troelstra, A. Gool, J. Wit, W. Vermeulen, D. Bootsma, J. Hoeijmakers (1992)
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genesCell, 71
D. Kipling, T. Davis, E. Ostler, R. Faragher (2004)
What Can Progeroid Syndromes Tell Us About Human Aging?Science, 305
H. Iwasa, Jiahuai Han, F. Ishikawa (2003)
Mitogen‐activated protein kinase p38 defines the common senescence‐signalling pathwayGenes to Cells, 8
O. Werner
Über Katarakt in Verbindung mit Sklerodermie
Li-shan Chen, Lin Lee, B. Kudlow, H. Santos, O. Sletvold, Y. Shafeghati, Eleanor Botha, A. Garg, N. Hanson, G. Martin, I. Mian, B. Kennedy, J. Oshima (2003)
LMNA mutations in atypical Werner's syndromeThe Lancet, 362
R. Klose, K. Yamane, Yangjin Bae, Dianzheng Zhang, H. Erdjument-Bromage, P. Tempst, J. Wong, Yi Zhang (2006)
The transcriptional repressor JHDM3A demethylates trimethyl histone H3 lysine 9 and lysine 36Nature, 442
Y. Shiloh (2003)
ATM and related protein kinases: safeguarding genome integrityNature Reviews Cancer, 3
J. Boer, Jaan-Olle Andressoo, J. Wit, J. Huijmans, R. Beems, H. Steeg, G. Weeda, G. Horst, Wibeke Leeuwen, A. Themmen, M. Meradji, J. Hoeijmakers (2002)
Premature Aging in Mice Deficient in DNA Repair and TranscriptionScience, 296
R. Faragher, Ian KILLt, John HUNTERt, F. Pope, Charles Tannock (1993)
The gene responsible for Werner syndrome may be a cell division "counting" gene.Proceedings of the National Academy of Sciences of the United States of America, 90 24
L. Fong, D. Frost, M. Meta, Xin Qiao, Shao Yang, C. Coffinier, S. Young (2006)
A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of ProgeriaScience, 311
A. Franchitto, J. Oshima, P. Pichierri (2003)
The G 2-phase Decatenation Checkpoint Is Defective in Werner Syndrome Cells 1 , 2
A. Csoka, H. Cao, P. Sammak, D. Constantinescu, G. Schatten, R. Hegele (2004)
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromesJournal of Medical Genetics, 41
Zhongyang Zhang, K. Hirano, K. Tsukamoto, C. Ikegami, M. Koseki, K. Saijo, T. Ohno, N. Sakai, H. Hiraoka, I. Shimomura, S. Yamashita (2005)
Defective cholesterol efflux in Werner syndrome fibroblasts and its phenotypic correction by Cdc42, a RhoGTPaseExperimental Gerontology, 40
J. Shen, C. Brown, J. Lupski, L. Potocki (2003)
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/CJournal of Medical Genetics, 40
J. Hutchinson
Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.Medico-chirurgical transactions, 69
T. Nouspikel (2007)
DNA repair in differentiated cells: Some new answers to old questionsNeuroscience, 145
A. Pendás, Zhongjun Zhou, J. Cadiñanos, J. Freije, Jianming Wang, K. Hultenby, A. Astudillo, A. Wernerson, Francisco Rodríguez, K. Tryggvason, C. López-Otín (2002)
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient miceNature Genetics, 31
G. Novelli, A. Muchir, F. Sangiuolo, A. Helbling-Leclerc, M. D’Apice, C. Massart, F. Capon, P. Sbraccia, M. Federici, R. Lauro, C. Tudisco, R. Pallotta, G. Scarano, B. Dallapiccola, L. Merlini, G. Bonne (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.American journal of human genetics, 71 2
J. Cleaver (2005)
Cancer in xeroderma pigmentosum and related disorders of DNA repairNature Reviews Cancer, 5
D. Orren (2006)
Werner syndrome: molecular insights into the relationships between defective DNA metabolism, genomic instability, cancer and aging.Frontiers in bioscience : a journal and virtual library, 11
Michael Sinensky, K. Fantle, M. Trujillo, T. McLain, Abraham Kupfer, M. Dalton (1994)
The processing pathway of prelamin A.Journal of cell science, 107 ( Pt 1)
T. Kirkwood (2005)
Understanding the Odd Science of AgingCell, 120
Dayle McClintock, L. Gordon, K. Djabali (2006)
Hutchinson–Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibodyProceedings of the National Academy of Sciences of the United States of America, 103
C. Hutchison, H. Worman (2004)
A-type lamins: Guardians of the soma?Nature Cell Biology, 6
C. López-Otín, C. Overall (2002)
Protease degradomics: A new challenge for proteomicsNature Reviews Molecular Cell Biology, 3
I. Varela, J. Cadiñanos, A. Pendás, A. Gutiérrez-Fernández, Alicia Folgueras, L. Sánchez, Zhongjun Zhou, Francisco Rodríguez, C. Stewart, J. Vega, K. Tryggvason, J. Freije, C. López-Otín (2005)
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activationNature, 437
P. Itin, Alain Sarasin, M. Pittelkow (2001)
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.Journal of the American Academy of Dermatology, 44 6
Y. Gruenbaum, A. Margalit, R. Goldman, D. Shumaker, K. Wilson (2005)
The nuclear lamina comes of ageNature Reviews Molecular Cell Biology, 6
M. Eriksson, W. Brown, L. Gordon, L. Gordon, M. Glynn, J. Singer, L. Scott, M. Erdos, C. Robbins, T. Moses, Peter Berglund, A. Dutra, E. Pak, Sandra Durkin, A. Csoka, M. Boehnke, T. Glover, F. Collins (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndromeNature, 423
Richard Miller (2004)
‘Accelerated aging’: a primrose path to insight?Aging Cell, 3
Katherine Jacob, A. Garg (2006)
Laminopathies: multisystem dystrophy syndromes.Molecular genetics and metabolism, 87 4
Brian Capell, M. Erdos, J. Madigan, J. Fiordalisi, R. Varga, K. Conneely, L. Gordon, C. Der, A. Cox, F. Collins (2005)
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.Proceedings of the National Academy of Sciences of the United States of America, 102 36
A. Basso, P. Kirschmeier, W. Bishop (2006)
Lipid posttranslational modifications. Farnesyl transferase inhibitors.Journal of lipid research, 47 1
F. Lin, H. Worman (1993)
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.The Journal of biological chemistry, 268 22
K. Dahl, Paola Scaffidi, Mohammad Islam, A. Yodh, K. Wilson, T. Misteli (2006)
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson–Gilford progeria syndromeProceedings of the National Academy of Sciences, 103
T. Yamauchi, J. Kamon, H. Waki, Y. Terauchi, N. Kubota, K. Hara, Y. Mori, T. Ide, K. Murakami, N. Tsuboyama-Kasaoka, O. Ezaki, Y. Akanuma, O. Gavrilova, C. Vinson, M. Reitman, H. Kagechika, K. Shudo, M. Yoda, Y. Nakano, K. Tobe, R. Nagai, Shigeko Kimura, Motowo Tomita, P. Froguel, T. Kadowaki (2001)
The fat-derived hormone adiponectin reverses insulin resistance associated with both lipoatrophy and obesityNature Medicine, 7
(1904)
Ateleiosis and progeria : continous youth and premature old age
D. Shumaker, T. Dechat, A. Kohlmaier, S. Adam, Matthew Bozovsky, M. Erdos, M. Eriksson, A. Goldman, S. Khuon, F. Collins, T. Jenuwein, R. Goldman (2006)
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.Proceedings of the National Academy of Sciences of the United States of America, 103 23
M. Glynn, T. Glover (2005)
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.Human molecular genetics, 14 20
A. Sarker, S. Tsutakawa, Seth Kostek, Cliff Ng, D. Shin, M. Peris, E. Campeau, J. Tainer, E. Nogales, P. Cooper (2005)
Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.Molecular cell, 20 2
Erin Haithcock, Yaron Dayani, E. Neufeld, Adam Zahand, N. Feinstein, Anna Mattout, Y. Gruenbaum, Jun Liu (2005)
Age-related changes of nuclear architecture in Caenorhabditis elegans.Proceedings of the National Academy of Sciences of the United States of America, 102 46
P. Hasty, J. Campisi, J. Hoeijmakers, H. Steeg, J. Vijg (2003)
Aging and Genome Maintenance: Lessons from the Mouse?Science, 299
Mahesh Sangrithi, J. Bernal, M. Madine, A. Philpott, Joon‐Kyu Lee, W. Dunphy, A. Venkitaraman (2005)
Initiation of DNA Replication Requires the RECQL4 Protein Mutated in Rothmund-Thomson SyndromeCell, 121
A. Szekely, F. Bleichert, Astrid Nümann, S. Komen, E. Manasanch, Abdelhakim Nasr, A. Canaan, S. Weissman (2005)
Werner Protein Protects Nonproliferating Cells from Oxidative DNA DamageMolecular and Cellular Biology, 25
C. Navarro, J. Cadiñanos, A. Sandre-Giovannoli, R. Bernard, S. Courrier, I. Boccaccio, A. Boyer, W. Kleijer, A. Wagner, F. Giuliano, F. Beemer, J. Freije, P. Cau, R. Hennekam, C. López-Otín, C. Badens, N. Lévy (2005)
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.Human molecular genetics, 14 11
Casey Moulson, Gloriosa Go, Jennifer Gardner, A. Wal, J. Smitt, J. Hagen, J. Miner (2005)
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.The Journal of investigative dermatology, 125 5
Teresa Sullivan, D. Escalante-Alcalde, H. Bhatt, M. Anver, N. Bhat, K. Nagashima, C. Stewart, B. Burke (1999)
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular DystrophyThe Journal of Cell Biology, 147
A. Machwe, Enerlyn Lozada, Liren Xiao, D. Orren (2006)
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteinsBMC Molecular Biology, 7
J. Lammerding, P. Schulze, Tomosaburo Takahashi, S. Kozlov, Teresa Sullivan, R. Kamm, C. Stewart, Richard Lee (2004)
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.The Journal of clinical investigation, 113 3
T. Brunner, S. Hahn, Anjali Gupta, R. Muschel, W. Mckenna, E. Bernhard (2003)
Farnesyltransferase inhibitors: an overview of the results of preclinical and clinical investigations.Cancer research, 63 18
Ruben Agrelo, F. Setién, J. Espada, M. Artiga, M. Rodriguez, A. Pérez‐Rosado, A. Sánchez-Aguilera, M. Fraga, M. Piris, M. Esteller (2005)
Inactivation of the lamin A/C gene by CpG island promoter hypermethylation in hematologic malignancies, and its association with poor survival in nodal diffuse large B-cell lymphoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 23 17
Chang-En Yu, J. Oshima, Ying-Hui Fu, E. Wijsman, F. Hisama, Reid Alisch, S. Matthews, J. Nakura, T. Miki, S. Ouais, G. Martin, J. Mulligan, G. Schellenberg (1996)
Positional Cloning of the Werner's Syndrome GeneScience, 272
K. Fukuchi, Tomohiro Katsuya, K. Sugimoto, M. Kuremura, H. Kim, Ling Li, T. Ogihara (2004)
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndromeJournal of Medical Genetics, 41
Paola Scaffidi, T. Misteli (2006)
Lamin A-Dependent Nuclear Defects in Human AgingScience, 312
(2006)
The laminopathies : the structure of the nucleus and its involvement in disease
Paola Scaffidi, T. Misteli (2005)
Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndromeNature Medicine, 11
Baohua Liu, Jianming Wang, K. Chan, W. Tjia, W. Deng, Xinyuan Guan, Jian-Dong Huang, Kai Li, Pui Chau, David Chen, D. Pei, A. Pendás, J. Cadiñanos, C. López-Otín, H. Tse, C. Hutchison, Junjie Chen, Yihai Cao, K. Cheah, K. Tryggvason, Zhongjun Zhou (2005)
Genomic instability in laminopathy-based premature agingNature Medicine, 11
J. Oshima, C. Yu, C. Piussan, G. Klein, J. Jabkowski, S. Balcı, T. Miki, J. Nakura, T. Ogihara, J. Ells, M. Smith, M. Melaragno, M. Fraccaro, S. Scappaticci, J. Matthews, S. Ouais, A. Jarzebowicz, G. Schellenberg, G. Martin (1996)
Homozygous and compound heterozygous mutations at the Werner syndrome locus.Human molecular genetics, 5 12
B. Burke, C. Stewart (2002)
Life at the edge: the nuclear envelope and human diseaseNature Reviews Molecular Cell Biology, 3
J. Denecke, T. Brune, Tobias Feldhaus, H. Robenek, C. Kranz, R. Auchus, A. Agarwal, T. Marquardt (2006)
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson‐Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPSHuman Mutation, 27
M. Puzianowska-Kuźnicka, J. Kuźnicki (2005)
Genetic alterations in accelerated ageing syndromes. Do they play a role in natural ageing?The international journal of biochemistry & cell biology, 37 5
C. Licht, T. Stevnsner, V. Bohr (2003)
Cockayne syndrome group B cellular and biochemical functions.American journal of human genetics, 73 6
J. Toth, Shao Yang, Xin Qiao, A. Beigneux, M. Gelb, Casey Moulson, J. Miner, S. Young, L. Fong (2005)
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes.Proceedings of the National Academy of Sciences of the United States of America, 102 36
H. Cao, R. Hegele (2003)
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)Journal of Human Genetics, 48
R. Hennekam (2006)
Hutchinson–Gilford progeria syndrome: Review of the phenotypeAmerican Journal of Medical Genetics Part A, 140A
J. Campisi (2005)
Senescent Cells, Tumor Suppression, and Organismal Aging: Good Citizens, Bad NeighborsCell, 120
M. Lavin, Y. Shiloh (1997)
The genetic defect in ataxia-telangiectasia.Annual review of immunology, 15
E. Delbarre, M. Tramier, M. Coppey-Moisan, C. Gaillard, J. Courvalin, B. Buendia (2006)
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers.Human molecular genetics, 15 7
Michael Wirtenberger, B. Frank, K. Hemminki, R. Klaes, R. Schmutzler, B. Wappenschmidt, A. Meindl, M. Kiechle, N. Arnold, B. Weber, D. Niederacher, C. Bartram, B. Burwinkel (2005)
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.Carcinogenesis, 27 8
G. Bonne, M. Barletta, S. Varnous, H. Bécane, E. Hammouda, L. Merlini, F. Muntoni, C. Greenberg, F. Gary, J. Urtizberea, D. Duboc, M. Fardeau, D. Toniolo, K. Schwartz (1999)
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyNature Genetics, 21
N. Lévy, C. López-Otín, R. Hennekam (2005)
Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy.Archives of dermatology, 141 11
R. Varga, M. Eriksson, M. Erdos, M. Olive, Ingrid Harten, F. Kolodgie, Brian Capell, Jun Cheng, Dina Faddah, S. Perkins, H. Avallone, H. San, X. Qu, S. Ganesh, L. Gordon, R. Virmani, T. Wight, E. Nabel, F. Collins (2006)
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson–Gilford progeria syndromeProceedings of the National Academy of Sciences of the United States of America, 103
N. Maraldi, S. Squarzoni, P. Sabatelli, C. Capanni, E. Mattioli, A. Ognibene, G. Lattanzi (2005)
Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseasesJournal of Cellular Physiology, 203
(1886)
Case of congenital absence of hair , with atrophic condition of the skin and its apendages
J. Hoeijmakers (2001)
Genome maintenance mechanisms for preventing cancerNature, 411
Disorders in which individuals exhibit certain features of aging early in life are referred to as segmental progeroid syndromes. With the progress that has been made in understanding the etiologies of these conditions in the past decade, potential therapeutic options have begun to move from the realm of improbability to initial stages of testing. Among these syndromes, relevant advances have recently been made in Werner syndrome, one of several progeroid syndromes characterized by defective DNA helicases, and Hutchinson-Gilford progeria syndrome, which is characterized by aberrant processing of the nuclear envelope protein lamin A. Although best known for their causative roles in these illnesses, Werner protein and lamin A have also recently emerged as key players vulnerable to epigenetic changes that contribute to tumorigenesis and aging. These advances further demonstrate that understanding progeroid syndromes and introducing adequate treatments will not only prove beneficial to patients suffering from these dramatic diseases, but will also provide new mechanistic insights into cancer and normal aging processes.
Cellular and Molecular Life Sciences – Springer Journals
Published: Nov 27, 2006
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.