Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving antigen-antibody binding – specific binding protein...
Reexamination Certificate
2005-02-22
2005-02-22
Gambel, Phillip (Department: 1644)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving antigen-antibody binding, specific binding protein...
C435S040520
Reexamination Certificate
active
06858395
ABSTRACT:
The present disclosure provides compositions and sequences for the diagnosis, genetic therapy of certain muscular dystrophies, especially muscular dystrophy resulting from a deficiency in dystrophin protein or a combined deficiency in dystrophin and utrophin, and methods and compositions for the identification of compounds which increase expression of the α7 integrin. Expression of the integrin αBX2 polypeptide in muscle cells results in better physical condition in a patient or an animal lacking normal levels of dystrophin or dystrophin and utrophin. The present disclosure further provides immunological and nucleic acid based methods for the diagnosis of scapuloperoneal muscular dystrophy, where there is a reduction in or absence of α7A integrin expression in muscle tissue samples and normal levels of laminin-2/4 in those same samples. The present disclosure further provides methods for identifying compositions which increase the expression of α7 integrin protein in muscle cells of dystrophy patients.
REFERENCES:
patent: 5310874 (1994-05-01), Tamura et al.
patent: 5561047 (1996-10-01), Shattil
patent: 5780244 (1998-07-01), Engvall et al.
patent: 5863743 (1999-01-01), Campbell et al.
patent: 5985846 (1999-11-01), Kochanek et al.
patent: 6057423 (2000-05-01), Brenner et al.
patent: WO 9317031 (1993-09-01), None
patent: WO 0020582 (2000-04-01), None
patent: WO 0075187 (2000-12-01), None
Acsadi, G. et al., “Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer.” (Jan. 1996)Human Gene Therapy7:129-140.
Amalfitano, A. and Chamberlain, J.S., “The mdx-amplification-resistant mutation system assay, a simple and rapid polymerase chain reaction-based detection of the mdx allele,” (1996)Muscle&Nerve19:1549-1553.
Belkin. A.M. et al., “β1D integrin displaces the β1A isoform in striated muscles: localization at junctional structures and signaling potential in nonmuscle cells,” (1996)J. Cell. Biol.132:211-216.
Belkin. A.M. et al., “Muscle β1D integrin reinforces the cytoskeleton-matrix link: modulation of integrin adhesive function by alternative splicing.” (1997)J. Cell Biol.139:1583-1595.
Bulfield. O. et al., “X chromosome-linked muscular dystrophy (mdx) in the mouse,” (1984)Proc. Natl. Acad. Sci. USA81:1189-1192.
Burkin. D.J. et al., “A functional role for specific spliced variants of the α7β1 integrin in acetylcholine receptor clustering,” (1998)J. Cell Biol.143:1067-1075.
Burkin. D.J. et al., “Laminin and α7β1 integrin regulate agrin-induced clustering of acetylcholine receptors,” (2000)J. Cell Sci.113:2877-2886.
Burkin, D.J. and Kaufman, S.J., “The α7β1 integrin in muscle development and disease,” (Apr. 1999)Cell Tissue Res.296:183-190.
Burkin. D.J. et al., “Enhanced expression of the α7β1 integrin reduces muscular dystrophy and restores viability in dystrophic mice,” (Mar. 2001)J. Cell Biol.152(6):1207-1218.
Campbell, K.P., “Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage,” (1995)Cell80:675-679.
Campeau, P. et al., “Transfection of large plasmids in primary human myoblasts,” (2001)Gene Therapy8:1387-1394.
Cohn, R.D. et al., “Secondary reduction of α7B integrin laminin a2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle,” (1999)Journal of the Neurological Sciences163:140-152.
Cordier et al. (2000) “Rescue of skeletal muscles of γ-Sacroglycan-deficient mice with adeno-associated virus-mediated gene transfer,”Mol. Ther.1:119-129.
Deconinck, A.E. et al., “Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice,” (1997)J. Cell Biol.136:883-894.
Deconinck, A.E. et al., “Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy,” (1997)Cell90:717-727.
Denetclaw, W.F. Jr. et al., “Myotubes from transgenic mdx mice expressing full-length dystrophin show normal calcium regulation,” (1994)Mol. Biol. Cell.5:1159-1167.
DiMario. J.X. et al., “Fiber regeneration is not persistent in dystrophic (mdx) mouse skeletal muscle.” (1991)Dev. Biol.148:314-321.
Donoviel, D.B. et al., “Analysis of muscle creatine kinase gene regulatory elements in skeletal and cardiac muscles of transgenic mice,” (1996)Mol. Cell. Biol.16(4):1649-1658.
Ebihara, S. et al., “Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy,” (Sep. 2000)Physiological Genomics3:133-144.
Engvall. E., “Muscle cell adhesion and muscular dystrophy,” (Mar. 2000)FASEB J14(4):A799[Abstract].
Fujii et al., “Targeted and stable gene delivery into muscle cells by a two-step transfer,” (2000)Biochem. Biophys Res. Commun.275:931-935.
George-Weinstein. M. et al., “In vitro and in vivo expression of α7 integrin and desmin define the primary and secondary myogenic lineages.” (1993)Developmental Biology156:209-229.
Gilbert. R. et al., “Efficient utrophin expression following adenovirus gene transfer in dystrophic muscle,” (1998)Biochem.&Biophys. Res. Communications242:244-247.
Grady, R.M. et al., “Subtle neuromuscular defects in utrophin-deficient mice,” (1997)J. Cell. Biol.136(4):871-882.
Grady, R.M. et al., “Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy,” (1997)Cell90:729-738.
Grady, R.M. et al., “Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies,” (1999)Nat. Cell Biol.1:215-220.
Gussoni, E. et al., “Dystrophin expression in the mdx mouse restored by stem cell transplantation,” (Sep. 1999)Nature401:390-394.
Hayashi, Y.K. et al., “Abnormal localization of laminin subunits in muscular dystrophies,” (1993)J. Neurol. Sci.119:53-64.
Hayashi, Y.K. et al., “Mutations in the integrin α7 gene cause congenital myopathy,” (May 1998)Nature Genetics19:94-97.
Hodges, B.I. and Kaufman, S.J., “Developmental regulation and functional significance of alternative splicing of NCAM and α7β1 integrin in skeletal muscle,” (1996)Basic Appl. Myology6:437-446.
Hodges, B.L. et al., “Altered expression of the α7β1 integrin in human and murine muscular dystrophies,” (1997)J. Cell Sci.110:2873-2881.
Jaynes, J.B. et al., “Transcriptional regulation of the muscle creatine kinase gene and related expression in transfected mouse myoblasts,” (1986)Mol. Cell Biol.6:2855-2864.
Johnson, J.E. et al., “Muscle creatine kinase sequence elements regulating skeletal and cardiac muscle expression in transgenic mice,” (1989)Mol. Cell Biol.9:3393-3399.
Kim, Y.Y. et al., “Cellular localization of α3β1 integrin isoforms in association with myofibrillogenesis during cardiac myocyte development in culture,” (1999)Cell Adhesion and Comm.7(2):85-97.
Kwon, M.S. et al., “Calreticulin couples calcium release and calcium influx in integrin-mediated calcium signaling.” (2000)Mol. Cell Biol.11:1433-1443.
Law, D.J. et al., “Talin. vinculin and DRP (utrophin) concentrations are increased at the mdx myotendinous junctions following onset of necrosis,” (1994)J. Cell Sci.107:1477-1483.
Lee, H.C. et al., “Remission in models of type 1 diabetes by gene therapy using a single-chain insulin analogue,” (2000)Nature408:483-492.
Lim. L.F. and Campbell, K.P., “The sarcoglycan complex in limb-girdle muscular dystrophy,” (1998)Curr. Opin. Neurol.11:443-452.
Matsumura, K. et al., “Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle,” (1992)Nature360:588-591.
Matsumura, K
Gambel Phillip
Greenlee Winner and Sullivan PC
Haddad Maher
The Board of Trustees of the University of Illinois
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