Patents Assigned to Progeria Research Foundation, Inc.
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Patent number: 10398721Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.Type: GrantFiled: October 6, 2017Date of Patent: September 3, 2019Assignees: SAREPTA THERAPEUTICS, INC., THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES, UNIVERSITY OF MARYLAND, PROGERIA RESEARCH FOUNDATION, INC.Inventors: Ryszard Kole, Francis S. Collins, Michael R. Erdos, Kan Cao, Leslie B. Gordon
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Patent number: 9115400Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.Type: GrantFiled: September 12, 2013Date of Patent: August 25, 2015Assignees: The Government of the United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, William Ted Brown
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Patent number: 8828356Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.Type: GrantFiled: April 4, 2013Date of Patent: September 9, 2014Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The University of North Carolina at Chapel Hill, The Regents of the University of MichiganInventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
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Patent number: 8691501Abstract: Although it can be farnesylated, mutant lamin A expressed in Hutchinson Gilford Progeria Syndrome cannot be defarnesylated; the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (“progerin”) that alters normal lamin A function as a dominant negative, and assumes its own aberrant function through its association with the nuclear membrane. Retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) will inhibit formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression. Similarly, treatment with FTIs should improve disease status in progeria and other laminopathies.Type: GrantFiled: August 6, 2012Date of Patent: April 8, 2014Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The Universitry of North Carolina at Chapel Hill, The Regents of the University of MichiganInventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
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Patent number: 8535884Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.Type: GrantFiled: September 9, 2011Date of Patent: September 17, 2013Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
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Publication number: 20130203799Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.Type: ApplicationFiled: April 4, 2013Publication date: August 8, 2013Applicants: The Government of the United States of America as represented by the Secretary of the Department of, The University of North Carolina at Chapel Hill, The Regents of the University of Michigan, Progeria Research Foundation, Inc.Inventors: The Government of the United States of America as represented by the Secretary of the Department, Progeria Research Foundation, Inc., The Regents of the University of Michigan, The University of North Carolina at Chapel Hill
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Patent number: 8257915Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.Type: GrantFiled: October 15, 2010Date of Patent: September 4, 2012Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The University of North Carolina at Chapel Hill, The Regents of the University of MichiganInventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
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Patent number: 8034557Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.Type: GrantFiled: October 10, 2007Date of Patent: October 11, 2011Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
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Patent number: 7838531Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchison Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.Type: GrantFiled: July 25, 2007Date of Patent: November 23, 2010Assignees: The United States of America as represented by the Department of Health and Human Services, The Regents of the University of Michiga, Progeria Research Foundation, Inc., The University of North Carolina at Chapel HillInventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
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Patent number: 7297492Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.Type: GrantFiled: September 17, 2004Date of Patent: November 20, 2007Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, The Progeria Research Foundation, Inc., Research Foundation for Mental Hygiene, Inc.Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown