• protein-macromolecule adaptor activity • scaffold protein binding • 構造分子活性 • structural constituent of cytoskeleton • 血漿タンパク結合 • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication • cell adhesion molecule binding • protein kinase C binding • RNA結合
^“Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)”. Genomics10 (3): 640–5. (October 1991). doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
^“Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly”. J. Cell Biol.134 (4): 985–1001. (August 1996). doi:10.1083/jcb.134.4.985. PMC 2120955. PMID 8769422. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2120955/.
^“Protein sequence of human desmoplakin (Uniprot ID: P15924)”. Cardiac Organellar Protein Atlas Knowledgabase (COPaKB). 27 June 2015時点のオリジナルよりアーカイブ。26 June 2015閲覧。
^“Protein sequence of human desmoplakin (Uniprot ID: P15924-2)”. Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). 27 June 2015時点のオリジナルよりアーカイブ。26 June 2015閲覧。
^“Mechanistic basis of desmosome-targeted diseases”. Journal of Molecular Biology425 (21): 4006–22. (Nov 2013). doi:10.1016/j.jmb.2013.07.035. PMC 3807649. PMID 23911551. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3807649/.
^Green, K. J.; Guy, S. G.; Cserhalmi-Friedman, P. B.; McLean, W. H.; Christiano, A. M.; Wagner, R. M. (1999-12-XX). “Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers”. Experimental Dermatology8 (6): 462–470. doi:10.1111/j.1600-0625.1999.tb00304.x. ISSN 0906-6705. PMID 10597135. https://pubmed.ncbi.nlm.nih.gov/10597135.
^“Structure of the human desmoplakins. Implications for function in the desmosomal plaque”. The Journal of Biological Chemistry265 (5): 2603–12. (Feb 1990). PMID 1689290.
^ ab“Defining the interactions between intermediate filaments and desmosomes”. J. Cell Biol.141 (5): 1229–41. (1998). doi:10.1083/jcb.141.5.1229. PMC 2137181. PMID 9606214. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2137181/.
^Daday, Csaba; Kolšek, Katra; Gräter, Frauke (2017-09-15). “The mechano-sensing role of the unique SH3 insertion in plakin domains revealed by Molecular Dynamics simulations”. Scientific Reports7 (1): 11669. doi:10.1038/s41598-017-11017-2. ISSN 2045-2322. PMC 5601466. PMID 28916774. https://pubmed.ncbi.nlm.nih.gov/28916774.
^“Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain”. J. Mol. Biol.409 (5): 800–12. (2011). doi:10.1016/j.jmb.2011.04.046. PMC 3107870. PMID 21536047. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107870/.
^ abc“The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations”. J. Mol. Biol.411 (5): 1049–61. (2011). doi:10.1016/j.jmb.2011.06.047. PMID 21756917.
^“Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure”. Nature Structural Biology9 (8): 612–20. (Aug 2002). doi:10.1038/nsb818. PMID 12101406.
^“Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks”. The Journal of Cell Biology123 (3): 691–705. (Nov 1993). doi:10.1083/jcb.123.3.691. PMC 2200123. PMID 7693716. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2200123/.
^“Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks”. The Journal of Biological Chemistry269 (47): 29351–4. (Nov 1994). PMID 7525582.
^ ab“Desmosome structure, composition and function”. Biochimica et Biophysica Acta (BBA) - Biomembranes1778 (3): 572–87. (Mar 2008). doi:10.1016/j.bbamem.2007.07.014. PMID 17854763.
^“Attachment of vimentin filaments to desmosomal plaques in human meningiomal cells and arachnoidal tissue”. The Journal of Cell Biology98 (3): 1072–81. (Mar 1984). doi:10.1083/jcb.98.3.1072. PMC 2113124. PMID 6365927. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2113124/.
^“Specific attachment of desmin filaments to desmosomal plaques in cardiac myocytes”. The EMBO Journal2 (5): 735–42. (1983). doi:10.1002/j.1460-2075.1983.tb01493.x. PMC 555178. PMID 6416832. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC555178/.
^“Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage”. The Journal of Cell Biology143 (7): 2009–22. (Dec 1998). doi:10.1083/jcb.143.7.2009. PMC 2175222. PMID 9864371. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2175222/.
^ ab“Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy”. Circulation Research99 (6): 646–55. (Sep 2006). doi:10.1161/01.RES.0000241482.19382.c6. PMID 16917092.
^“Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy”. Nature Clinical Practice Cardiovascular Medicine5 (5): 258–67. (May 2008). doi:10.1038/ncpcardio1182. PMC 2822988. PMID 18382419. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822988/.
^ ab“Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma”. Human Molecular Genetics9 (18): 2761–6. (Nov 2000). doi:10.1093/hmg/9.18.2761. PMID 11063735.
^“Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy”. Journal of the American Academy of Dermatology39 (3): 418–21. (Sep 1998). doi:10.1016/s0190-9622(98)70317-2. PMID 9738775.
^“Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy”. American Journal of Human Genetics71 (5): 1200–6. (Nov 2002). doi:10.1086/344208. PMC 385098. PMID 12373648. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC385098/.
^“A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair”. Journal of the American College of Cardiology42 (2): 319–27. (Jul 2003). doi:10.1016/s0735-1097(03)00628-4. PMID 12875771.
^ ab“Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome”. Journal of Medical Genetics43 (2): e5. (Feb 2006). doi:10.1136/jmg.2005.032904. PMC 2564645. PMID 16467215. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564645/.
^“A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy”. Human Mutation30 (9): 1278–83. (Sep 2009). doi:10.1002/humu.21064. PMID 19569224.
^“Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma”. Human Molecular Genetics8 (1): 143–8. (Jan 1999). doi:10.1093/hmg/8.1.143. PMID 9887343.
^“Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency”. The Journal of Investigative Dermatology113 (6): 940–6. (Dec 1999). doi:10.1046/j.1523-1747.1999.00783.x. PMID 10594734.
^“Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome”. The Journal of Investigative Dermatology118 (2): 232–8. (Feb 2002). doi:10.1046/j.0022-202x.2001.01664.x. PMID 11841538.
^“Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy”. Journal of the American Academy of Dermatology39 (3): 418–21. (Sep 1998). doi:10.1016/s0190-9622(98)70317-2. PMID 9738775.
^“Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa”. American Journal of Human Genetics77 (4): 653–60. (Oct 2005). doi:10.1086/496901. PMC 1275614. PMID 16175511. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1275614/.
^“Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia”. The New England Journal of Medicine323 (25): 1729–35. (Dec 1990). doi:10.1056/NEJM199012203232503. PMID 2247105.
^“Human autoantibodies against desmoplakins in paraneoplastic pemphigus”. The Journal of Clinical Investigation89 (6): 1775–82. (Jun 1992). doi:10.1172/JCI115781. PMC 295873. PMID 1601988. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC295873/.
^“Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer”. Human Pathology40 (9): 1320–9. (Sep 2009). doi:10.1016/j.humpath.2009.02.002. PMID 19386346.
^“Epidermal growth factor suppresses induction by progestin of the adhesion protein desmoplakin in T47D breast cancer cells”. Breast Cancer Research6 (3): R239–45. (2004). doi:10.1186/bcr780. PMC 400677. PMID 15084247. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC400677/.
^ abc“Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments”. J. Biol. Chem.272 (34): 21495–503. (August 1997). doi:10.1074/jbc.272.34.21495. PMID 9261168.
^“Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis”. J. Cell Sci.113 (13): 2471–83. (July 2000). PMID 10852826.
^“Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling”. J. Biol. Chem.277 (12): 10512–22. (March 2002). doi:10.1074/jbc.M108765200. PMID 11790773.
^“VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions”. J. Cell Sci.111 (20): 3045–57. (October 1998). PMID 9739078.
^“The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes”. J. Cell Biol.139 (3): 773–84. (November 1997). doi:10.1083/jcb.139.3.773. PMC 2141713. PMID 9348293. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2141713/.
関連文献
“Epithelial structural proteins of the skin and oral cavity: function in health and disease”. Crit. Rev. Oral Biol. Med.11 (4): 383–408. (2000). doi:10.1177/10454411000110040101. PMID 11132762.
“Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins”. J. Biol. Chem.266 (26): 17326–32. (1991). PMID 1716629.
“Molecular structure of the human desmoplakin I and II amino terminus”. Proc. Natl. Acad. Sci. U.S.A.89 (2): 544–8. (1992). Bibcode: 1992PNAS...89..544V. doi:10.1073/pnas.89.2.544. PMC 48275. PMID 1731325. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC48275/.
“Structure of the human desmoplakins. Implications for function in the desmosomal plaque”. J. Biol. Chem.265 (19): 11406–7. (1990). PMID 2391353.
“Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins”. J. Cell Biol.127 (4): 1049–60. (1994). doi:10.1083/jcb.127.4.1049. PMC 2200061. PMID 7525601. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2200061/.
“Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope”. J. Biol. Chem.272 (3): 2021–30. (1997). doi:10.1074/jbc.272.3.2021. PMID 8999895.
“Fine mapping of 39 ESTs on human chromosome 6p23-p25”. Genomics46 (2): 303–6. (1997). doi:10.1006/geno.1997.5032. PMID 9417921.
“Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope”. J. Biol. Chem.273 (28): 17763–70. (1998). doi:10.1074/jbc.273.28.17763. PMID 9651377.
“A novel E2F binding protein with Myc-type HLH motif stimulates E2F-dependent transcription by forming a heterodimer”. Oncogene17 (7): 853–65. (1998). doi:10.1038/sj.onc.1202163. PMID 9780002.
“Shotgun sequencing of the human transcriptome with ORF expressed sequence tags”. Proc. Natl. Acad. Sci. U.S.A.97 (7): 3491–6. (2000). Bibcode: 2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC16267/.
外部リンク
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant