Howard Worman

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi request reprint Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy
    Yuexia Wang
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Hum Mol Genet 15:2479-89. 2006
  2. pmc Nucleocytoplasmic connections and deafness
    Howard J Worman
    Department of Medicine, College of Physician and Surgeons, Columbia University, 630 West 168th Street, New York, New York 10032, USA
    J Clin Invest 123:553-5. 2013
  3. pmc Altered protein dynamics of disease-associated lamin A mutants
    Susan Gilchrist
    MRC Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, UK
    BMC Cell Biol 5:46. 2004
  4. pmc Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
    Mauro Paradisi
    VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    BMC Cell Biol 6:27. 2005
  5. ncbi request reprint Inner nuclear membrane and regulation of Smad-mediated signaling
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA
    Biochim Biophys Acta 1761:626-31. 2006
  6. ncbi request reprint The nuclear lamina and inherited disease
    Howard J Worman
    Dept of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Trends Cell Biol 12:591-8. 2002
  7. pmc Laminopathies and the long strange trip from basic cell biology to therapy
    Howard J Worman
    Department of Medicine, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    J Clin Invest 119:1825-36. 2009
  8. ncbi request reprint Here come the SUNs: a nucleocytoskeletal missing link
    Howard J Worman
    Department of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Trends Cell Biol 16:67-9. 2006
  9. ncbi request reprint Inner nuclear membrane and signal transduction
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Cell Biochem 96:1185-92. 2005
  10. pmc How do mutations in lamins A and C cause disease?
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Clin Invest 113:349-51. 2004

Collaborators

  • I Callebaut
  • Antoine Muchir
  • Roland Foisner
  • U Spengler
  • J C Eissenberg
  • Colin L Stewart
  • Wendy A Bickmore
  • Mauro Paradisi
  • Y K Hayashi
  • Susan Gilchrist
  • C J Hutchison
  • GREGG GUNDERSEN
  • G Bonne
  • Birgit Terjung
  • Andrey A Panteleyev
  • Cecilia Ostlund
  • Feng Lin
  • Joel Couprie
  • Sophie Zinn-Justin
  • Yuexia Wang
  • Sandrine Caputo
  • Isabelle Krimm
  • L Holmer
  • F Lin
  • Bernard Gilquin
  • Q Ye
  • Wei Wu
  • Jean Claude Courvalin
  • Revekka L Boguslavsky
  • Angelika Lüdtke
  • Isabelle Duband-Goulet
  • Ian Holt
  • Shinji Shimoda
  • Verene Stierle
  • Catherine Favreau
  • Paul Hossenlopp
  • Kyu Kye Hwang
  • C Ostlund
  • K K Hwang
  • David M Owens
  • N Mamiya
  • Karima Djabali
  • R M Barton
  • A Park
  • Alan J Herron
  • Emilie Kondé
  • Muriel Gondry
  • Teresa Sullivan
  • Sandrine Braud
  • Matthias Taupitz
  • A Pezhman
  • Juliet M Morrison
  • Ruth M Garcia-Carrasquillo
  • Alexandra Belayew
  • Wolfram Wermke
  • Jürgen Bauditz
  • Georg Brabant
  • Janine Genschel
  • Hartmut H J Schmidt
  • Martin Koch
  • Manfred Wehnert
  • Minoru Nakamura
  • Dominique Higuet
  • Atsushi Tanaka
  • Emmanuelle Dubosclard
  • Takashi Kamihira
  • Nguyen Thi Man
  • Corinne Vigouroux
  • Sho Matsushita
  • Norihiro Sakamoto
  • Akira Kawano
  • Glenn E Morris
  • M Eric Gershwin
  • Brigitte Buendia
  • Mine Harada
  • Jacqueline Capeau
  • Hiromi Ishibashi
  • Jean Paul Mornon
  • K Schwartz
  • M Paulin-Levasseur
  • D L Blake
  • M W McBurney
  • I S Skerjanc
  • E Schuler
  • J C Courvalin
  • R E Nickowitz

Detail Information

Publications61

  1. ncbi request reprint Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy
    Yuexia Wang
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Hum Mol Genet 15:2479-89. 2006
    ..These results demonstrate that expression of a lamin A mutant that induces alterations in nuclear morphology can cause tissue and organ damage in mice with a normal complement of wild-type lamins...
  2. pmc Nucleocytoplasmic connections and deafness
    Howard J Worman
    Department of Medicine, College of Physician and Surgeons, Columbia University, 630 West 168th Street, New York, New York 10032, USA
    J Clin Invest 123:553-5. 2013
    ..These results link improper nuclear positioning specifically to the death of outer hair cells in the organ of Corti and ultimately to deafness...
  3. pmc Altered protein dynamics of disease-associated lamin A mutants
    Susan Gilchrist
    MRC Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, UK
    BMC Cell Biol 5:46. 2004
    ..To investigate this we have used photobleaching in human cells to analyse the dynamics of wild-type and mutant lamin A protein at the nuclear periphery...
  4. pmc Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
    Mauro Paradisi
    VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    BMC Cell Biol 6:27. 2005
    ..The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein...
  5. ncbi request reprint Inner nuclear membrane and regulation of Smad-mediated signaling
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA
    Biochim Biophys Acta 1761:626-31. 2006
    ..These data demonstrate that proteins within and associated with the inner nuclear membrane lipid bilayer regulate signal transduction pathways involved in numerous developmental, physiological and pathophysiological processes...
  6. ncbi request reprint The nuclear lamina and inherited disease
    Howard J Worman
    Dept of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Trends Cell Biol 12:591-8. 2002
    ..Although the precise pathogenic mechanisms are currently unknown, the involvement of lamins in several different disorders shows that research on the nuclear lamina will shed light on common human pathologies...
  7. pmc Laminopathies and the long strange trip from basic cell biology to therapy
    Howard J Worman
    Department of Medicine, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    J Clin Invest 119:1825-36. 2009
    ..Here, we review the laminopathies and the long strange trip from basic cell biology to therapeutic approaches for these diseases...
  8. ncbi request reprint Here come the SUNs: a nucleocytoskeletal missing link
    Howard J Worman
    Department of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Trends Cell Biol 16:67-9. 2006
    ..These discoveries have implications for nuclear positioning, nuclear migration and pathogenesis of inherited diseases that are caused by mutations in nuclear envelope proteins...
  9. ncbi request reprint Inner nuclear membrane and signal transduction
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Cell Biochem 96:1185-92. 2005
    ..In most instances, the mechanisms by which mutations in inner nuclear membrane proteins cause disease are not understood. In at least one case, however, an alteration in signal transduction appears to underlie disease pathogenesis...
  10. pmc How do mutations in lamins A and C cause disease?
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Clin Invest 113:349-51. 2004
    ....
  11. ncbi request reprint Prenylated prelamin A interacts with Narf, a novel nuclear protein
    R M Barton
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Biol Chem 274:30008-18. 1999
    ..The prenyl-dependent binding of Narf to prelamin A is an important first step in understanding the functional significance of the lamin A precursor...
  12. doi request reprint The nuclear envelope from basic biology to therapy
    Howard J Worman
    Department of Medicine and Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Biochem Soc Trans 38:253-6. 2010
    ..However, what became clear is that the nuclear envelope is a cellular structure with critical functions in addition to its traditional role as a barrier separating the nuclear and cytoplasmic compartments in interphase eukaryotic cells...
  13. doi request reprint Nuclear lamins and laminopathies
    Howard J Worman
    Departments of Medicine and of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, USA
    J Pathol 226:316-25. 2012
    ..Despite the incomplete understanding of pathogenic mechanisms underlying the laminopathies, basic research in cellular and small animal models has produced promising leads for treatments of these rare diseases...
  14. ncbi request reprint Molecular biological methods in diagnosis and treatment of liver diseases
    H J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Clin Chem 43:1476-86. 1997
    ..Gene therapy and nucleic acid-based therapeutics are also realistic future treatment options for individuals with liver diseases...
  15. pmc "Laminopathies": a wide spectrum of human diseases
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Exp Cell Res 313:2121-33. 2007
    ..Future investigations will likely identify new "laminopathies" and a combination of basic and clinical research will lead to a better understanding of pathophysiology and the development of therapies...
  16. pmc Diseases of the nuclear envelope
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Cold Spring Harb Perspect Biol 2:a000760. 2010
    ..Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging...
  17. ncbi request reprint MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin
    F Lin
    Departments of Medicine and of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Biol Chem 275:4840-7. 2000
    ..The LEM module is also present in two proteins of Caenorhabditis elegans. These results show that MAN1 is an integral protein of the inner nuclear membrane that shares the LEM module with other proteins of this subcellular localization...
  18. ncbi request reprint Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
    C Ostlund
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Sci 114:4435-45. 2001
    ..These results indicate that some lamin A mutants causing disease can be aberrantly localized, partially disrupt the endogenous lamina and alter emerin localization, whereas others localize normally in transfected cells...
  19. ncbi request reprint Protein-protein interactions between human nuclear lamins expressed in yeast
    Q Ye
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Exp Cell Res 219:292-8. 1995
    ..The results show that the yeast two-hybrid system can be used to study the interactions between structural proteins and their domains...
  20. ncbi request reprint Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane
    Q Ye
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 269:11306-11. 1994
    ..These results demonstrate that LBR is conserved among vertebrate species and that its nucleoplasmic domain can potentially mediate the interaction of both the nuclear lamina and the chromatin with the inner nuclear membrane...
  21. ncbi request reprint Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane
    E Schuler
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 269:11312-7. 1994
    ..These results are the first to demonstrate the structural organization of a vertebrate gene encoding an integral membrane protein of the nuclear envelope that may be a member of a family of polypeptides conserved in evolution...
  22. ncbi request reprint Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    F Lin
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 268:16321-6. 1993
    ..Analysis of the intron positions in these genes supports the hypothesis that the nuclear lamins and other intermediate filament proteins arose from a common ancestor...
  23. pmc Differentiation of antineutrophil nuclear antibodies in inflammatory bowel and autoimmune liver diseases from antineutrophil cytoplasmic antibodies (p-ANCA) using immunofluorescence microscopy
    B Terjung
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, USA
    Clin Exp Immunol 126:37-46. 2001
    ....
  24. ncbi request reprint The inner nuclear membrane
    H J Worman
    Department of Medicine and of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Membr Biol 177:1-11. 2000
  25. ncbi request reprint Expression of nuclear lamins in human tissues and cancer cell lines and transcription from the promoters of the lamin A/C and B1 genes
    F Lin
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Exp Cell Res 236:378-84. 1997
    ....
  26. ncbi request reprint Hepatitis C virus core protein binds to a DEAD box RNA helicase
    N Mamiya
    Departments of Medicine and of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Biol Chem 274:15751-6. 1999
    ..These findings demonstrate an interaction between HCV core protein and a host cell protein involved in RNA translation and suggest a mechanism by which HCV may inhibit host cell mRNA translation...
  27. ncbi request reprint Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR
    Q Ye
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Biol Chem 272:14983-9. 1997
    ..The modular domain organization of HP1-type proteins and LBR can explain some of the diverse protein-protein interactions at the chromatin-lamina-membrane interface of the nuclear envelope...
  28. pmc Autoantibodies from patients with primary biliary cirrhosis recognize a restricted region within the cytoplasmic tail of nuclear pore membrane glycoprotein Gp210
    R E Nickowitz
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    J Exp Med 178:2237-42. 1993
    ....
  29. ncbi request reprint Structural organization of the human gene (LMNB1) encoding nuclear lamin B1
    F Lin
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Genomics 27:230-6. 1995
    ....
  30. ncbi request reprint Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1
    Q Ye
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Biol Chem 271:14653-6. 1996
    ..LBR can interact with chromodomain proteins that are highly conserved in eukaryotic species and may function in the attachment of heterochromatin to the inner nuclear membrane in cells...
  31. ncbi request reprint The human lamin B receptor/sterol reductase multigene family
    L Holmer
    Department of Anatomy and Cell Biology, College of Physicians and Surgeons, New York, New York, 10032, USA
    Genomics 54:469-76. 1998
    ..These results describe a human gene family encoding proteins of the inner nuclear membrane and endoplasmic reticulum that function in nuclear organization and/or sterol metabolism...
  32. ncbi request reprint A human HP1 pseudogene maps to chromosome 11p14
    A Park
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Somat Cell Mol Genet 24:353-6. 1998
    ..These results demonstrate that HP1-type sequences have been duplicated multiple times in the mammalian genome...
  33. pmc Transcriptional repression of euchromatic genes by Drosophila heterochromatin protein 1 and histone modifiers
    K K Hwang
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 98:11423-7. 2001
    ..These data provide genetic evidence that an HP1-family protein represses the expression of euchromatic genes in a metazoan, and that histone modifiers cooperate with HP1 in euchromatic gene repression...
  34. ncbi request reprint Inner nuclear membrane proteins: functions and targeting
    L Holmer
    Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Cell Mol Life Sci 58:1741-7. 2001
    ..Associations with nuclear ligands retain them in the inner nuclear membrane. Further investigation of the functions and targeting of inner nuclear membrane proteins are needed to determine how they are involved in human disease...
  35. ncbi request reprint Nuclear envelope proteins and neuromuscular diseases
    Cecilia Ostlund
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, Tenth Floor, New York, New York 10032, USA
    Muscle Nerve 27:393-406. 2003
    ..This review gives an overview of this topic and describes recent advances in identification of disease-causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models...
  36. ncbi request reprint Emery-Dreifuss muscular dystrophy
    Antoine Muchir
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Curr Neurol Neurosci Rep 7:78-83. 2007
    ....
  37. pmc Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins
    Antoine Muchir
    Departments of Medicine and Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Biochem Biophys Res Commun 351:1011-7. 2006
    ....
  38. ncbi request reprint The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain
    Sandrine Caputo
    Département d Ingénierie et d Etudes des Protéines Direction des Sciences du Vivant, Bâtiment 152, Commissariat à l Energie Atomique Saclay, 91191 Gif sur Yvette Cedex, France
    J Biol Chem 281:18208-15. 2006
    ..This suggests that MAN1 binds simultaneously to R-Smads and their targeted DNA sequences...
  39. ncbi request reprint Intracellular trafficking and dynamics of double homeodomain proteins
    Cecilia 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 44:2378-84. 2005
    ..DUX1 is more mobile than DUX4 within the nucleus (t(1/2) = 4.8 s for DUX1 and 13.4 s for DUX4), suggesting differences in the way the two proteins interact with nuclear components...
  40. pmc Dependence of diffusional mobility of integral inner nuclear membrane proteins on A-type lamins
    Cecilia 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
    ..This supports a model where emerin and MAN1 are at least partly retained in the inner nuclear membrane by binding to A-type lamins, while LBR depends on other binding partners for its retention...
  41. ncbi request reprint Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy
    Revekka L Boguslavsky
    Department of Medicine and Anatomy, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Hum Mol Genet 15:653-63. 2006
    ..They also had increased basal phosphorylation of AKT1, a mediator of insulin signaling. We conclude that A-type lamins act as inhibitors of adipocyte differentiation, possibly by affecting PPARgamma2 and insulin signaling...
  42. pmc Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
    Yuexia Wang
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 17:2357-69. 2008
    ....
  43. ncbi request reprint Intracellular trafficking of MAN1, an integral protein of the nuclear envelope inner membrane
    Wei Wu
    Departments of Medicine and of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Cell Sci 115:1361-71. 2002
    ..These results are in agreement with the 'diffusion-retention' model for targeting integral proteins to the inner nuclear membrane...
  44. ncbi request reprint Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy
    Catherine Favreau
    Departement de Biologie Cellulaire, Institut Jacques Monod, CNRS, Universités Paris 6 and 7, 75251, Paris Cedex 05, France
    Exp Cell Res 282:14-23. 2003
    ..Transfected cells therefore develop similar phenotypes when expressing lamins mutated in the carboxyl-terminal tail at sites responsible for FPLD or EDMD...
  45. ncbi request reprint Gene regulation by human orthologs of Drosophila heterochromatin protein 1
    Kyu Kye Hwang
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA
    Biochem Biophys Res Commun 293:1217-22. 2002
    ..These results show that different human HP1 family proteins can potentially repress or activate the same genes...
  46. ncbi request reprint MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling
    Feng Lin
    Department of Medicine and Department of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 14:437-45. 2005
    ..These results show that the nuclear envelope regulates a signal transduction pathway and have implications for how mutations in nuclear envelope proteins cause different human diseases...
  47. ncbi request reprint Lamin-associated proteins
    Cecilia Ostlund
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Methods Cell Biol 78:829-59. 2004
  48. ncbi request reprint The carboxyl-terminal region common to lamins A and C contains a DNA binding domain
    Verene Stierle
    Département de Biologie Supramoléculaire et Cellulaire, Institut Jacques Monod CNRS UMR 7592, Universités Paris 6 Paris 7, 2 place Jussieu, 75251 Paris Cedex 05, France
    Biochemistry 42:4819-28. 2003
    ..We conclude that the carboxyl-terminal end of lamins A and C binds DNA and suggest that alterations in lamin-DNA interactions may play a role in the pathophysiology of some lamin-linked diseases...
  49. ncbi request reprint Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo
    Ian 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...
  50. ncbi request reprint Nuclear envelope, nuclear lamina, and inherited disease
    Howard J Worman
    Department of Medicine and Department of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Int Rev Cytol 246:231-79. 2005
    ..In this review, we summarize fundamental aspects of nuclear envelope structure and function, the inherited diseases caused by mutations in lamins and other nuclear envelope proteins, and possible pathogenic mechanisms...
  51. ncbi request reprint Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy
    Antoine Muchir
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York 10032, USA
    Hum Mol Genet 16:1884-95. 2007
    ..Activation of MAPK signaling appears to be a cornerstone in the development of heart disease in both X-linked and autosomal dominant EDMD...
  52. ncbi request reprint Molecular mimicry of mitochondrial and nuclear autoantigens in primary biliary cirrhosis
    Shinji Shimoda
    Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Gastroenterology 124:1915-25. 2003
    ..Virtually all patients with PBC have antimitochondrial autoantibodies (AMA), but, interestingly, approximately 50% also manifest antinuclear antibodies (ANA)...
  53. ncbi request reprint Antinuclear antibodies specific for primary biliary cirrhosis
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA
    Autoimmun Rev 2:211-7. 2003
    ..While antibodies against gp210, sp100 and some other nuclear proteins are very specific to PBC and may therefore be useful diagnostic markers, their connection to pathogenesis remains to be elucidated...
  54. pmc Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
    Antoine 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. 2007
    ..Activation of MAPK signaling by mutant A-type lamins could be a cornerstone in the development of heart disease in autosomal dominant Emery-Dreifuss muscular dystrophy...
  55. ncbi request reprint NMR assignment of region 655-775 of human MAN1
    Sandrine Caputo
    Departement d Ingenierie et d Etudes des Proteines, CEA Saclay, 91191, Gif sur Yvette, France
    J Biomol NMR 36:2. 2006
  56. ncbi request reprint The nuclear envelope and human disease
    Antoine Muchir
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Physiology (Bethesda) 19:309-14. 2004
    ..We review what is known about nuclear lamin function and the different diseases caused by mutations in lamins A and C and associated inner nuclear membrane proteins...
  57. ncbi request reprint Hepatic steatosis in Dunnigan-type familial partial lipodystrophy
    Angelika Lüdtke
    Department of Gastroenterology, Hepatology and Endocrinology, Charite, Campus Mitte, Humboldt University, Berlin, Germany
    Am J Gastroenterol 100:2218-24. 2005
    ..The goal of this study was to determine the prevalence of steatosis in subjects with FPLD...
  58. ncbi request reprint 1H, 13C and 15N resonance assignments of the C-terminal domain of human lamin A/C
    Isabelle Krimm
    J Biomol NMR 22:371-2. 2002
  59. ncbi request reprint Components of the nuclear envelope and their role in human disease
    Howard J Worman
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA
    Novartis Found Symp 264:35-42; discussion 42-50, 227-30. 2005
    ..Further studies of nuclear envelope proteins may uncover additional unsuspected relationships to human disease...
  60. ncbi request reprint The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
    Isabelle Krimm
    Departement d Ingenierie et d Etudes des Proteines, CEA Saclay, 91191, Gif sur Yvette, France
    Structure 10:811-23. 2002
    ..Our structure determination and mutant analyses clearly show that the consequences of the mutations causing muscle-specific diseases or lipodystrophy are different at the molecular level...
  61. ncbi request reprint A-type lamins: guardians of the soma?
    Chris J Hutchison
    School of Biological and Biomedical Sciences, The University of Durham, South Road, Durham, DH1 4EB, UK
    Nat Cell Biol 6:1062-7. 2004
    ..Thus, the degenerative nature of laminopathies is explained because these lamins are essential for maintenance of somatic tissues in adulthood...

Research Grants19

  1. Pathogenesis of Emery-Dreifuss Muscular Dystrophy
    Howard J Worman; Fiscal Year: 2010
    ....
  2. Nucleocytoplasmic Interactions and Dynamics in Emery-Dreifuss Muscular Dystrophy
    Howard Worman; Fiscal Year: 2009
    ....
  3. Pathogenesis of Emery-Dreifuss Muscular Dystrophy
    Howard J Worman; Fiscal Year: 2010
    ....
  4. Nucleocytoplasmic Interactions and Dynamics in Emery-Dreifuss Muscular Dystrophy
    Howard J Worman; Fiscal Year: 2010
    ....
  5. Pathogenesis of Emery-Dreifuss Muscular Dystrophy
    Howard Worman; Fiscal Year: 2009
    ....
  6. Nucleocytoplasmic Interactions and Dynamics in Emery-Dreifuss Muscular Dystrophy
    Howard Worman; Fiscal Year: 2009
    ....
  7. Pathogenesis of Emery-Dreifuss Muscular Dystrophy
    Howard Worman; Fiscal Year: 2007
    ..This work will help establish how abnormalities in the nuclear envelope cause muscular dystrophy. ..
  8. Lamin A Mutation and Hutchinson-Gilford Progeria
    Howard Worman; Fiscal Year: 2007
    ..This project will establish how mutations in nuclear lamins A and C cause HGPS, and if inhibition of protein farnesylation is a potential therapeutic intervention. ..
  9. DUX4 and Facioscapulohumeral Muscular Dystrophy
    Howard Worman; Fiscal Year: 2004
    ..This work could lead to the development of new diagnostic methods as well as the identification of potential protein targets for the treatment of FSHD. ..
  10. Lamin A in Adipocyte Differentation and Survival
    Howard Worman; Fiscal Year: 2004
    ..Confirmation of this hypothesis will have implications for the identification of new cellular targets to treat human obesity and diabetes mellitus. ..
  11. Pathogenesis of Emery-Dreifuss Muscular Dystrophy
    Howard J Worman; Fiscal Year: 2010
    ..The results obtained in this project will identify targets for therapeutic interventions in EDMD and related disorders caused by LMNA and EMD mutations. ..