DR. ROBERT J DESNICK, PH.D., M.D.
Medical Practice at Gustave L Levy Pl, New York, NY

5491075, Feb 13, 1996

Jun 17, 1994

8/261578

Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY

The Mount Sinai School of Medicine of the City University of New York - New York NY

C12N 1562, C12N 940, C12N 1556

435 697

The present invention involves the production of human. alpha. -GalNAc by cloning and expressing the. alpha. -GalNAc coding sequence in eukaryotic host cell expressions systems. The eukaryotic expression systems, and in particular the mammalian host cell expression systems described herein provide for the appropriate co-translational and post-translation modifications required or proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. The. alpha. -GalNAc produced in accordance with the invention may be used in the treatment of Schindler disease or for the hydrolysis of. alpha. -N-acetylgalactosaminyl moieties in various glycoconjugates.

5382524, Jan 17, 1995

Oct 24, 1990

7/602608

Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY

The Mount Sinai School of Medicine of the City University of New York - New York NY

C12N 1500, C12N 940, C12N 924

435200

The present invention involves the production of human. alpha. -GalNAc by cloning and expressing the. alpha. -GalNAc coding sequence in eukaryotic host cell expressions systems. The eukaryotic expression systems, and in particular the mammalian host cell expression systems described herein provide for the appropriate co-translational and post-translation modifications required or proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. The. alpha. -GalNAc produced in accordance with the invention may be used in the treatment of Schindler disease or for the hydrolysis of. alpha. -N-acetylgalactosaminyl moieties in various glycoconjugates.

5639607, Jun 17, 1997

Feb 14, 1994

8/195744

Robert J. Desnick - New York NY
James G. Wetmur - Scarsdale NY

Mount Sinai School of Medicine of the City University of New York - New York NY

C12Q 168, C12P 1934, C07H 2104

435 6

A method is disclosed for detecting a polymorphism in the. delta. -aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning. A point mutation which generates an MspI restriction endonuclease recognition site was found in the ALAD2 allele of the. delta. -aminolevulinate dehydratase gene which is not present in the ALAD1 allele. Kit containing primers for the amplification of the polymorphic region of the ALAD gene are provided.

5356804, Oct 18, 1994

Oct 24, 1990

7/602824

Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY

Mount Sinai School of Medicine of the City of New York - New York NY

C12N 940, C12N 1500, C12N 500, C12N 120

435208

The present invention involves the production of large quantities of human. alpha. -Gal A by cloning and expressing the. alpha. -Gal A coding sequence in eukaryotic host cell expression systems. The eukaryotic expression systems, and in particular the mammalian host cell expression system described herein provide for the appropriate cotranslational and posttranslational modifications required for proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. In addition, the expression of fusion proteins which simplify purification is described. Using the methods described herein, the recombinant. alpha. -Gal A is secreted by the engineered host cells so that it is recovered from the culture medium in good yield. The. alpha.

2003008, May 8, 2003

Jun 28, 2002

10/185433

John Martignetti - Chappaqua NY, US
Robert Desnick - New York NY, US

Mount Sinai School of Medicine

A61K048/00, A61K038/46, A61K039/395

514/044000, 424/146100, 424/094650

The present invention relates to a method for the prevention or treatment of a disease mediated by decreased MMP-2 function. This may result from an aberrant interaction of molecules that stimulate or inhibit MMP-2 protein synthesis, stability, or function, as well as from mutations in the coding or regulatory regions of the gene encoding MMP-2. The invention also provides a method for identifying a substance useful in this context. It further contemplates a method for diagnosing such a disease.

2002019, Dec 26, 2002

Jun 14, 2002

10/172604

Jian-Qiang Fan - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US

Mount Sinai School of Medicine

A61K031/513

514/269000

Method fore enhancing in a mammalian cell the activity of an enzyme associated with a lysosomal storage disorder by administering a competitive inhibitor of the enzyme in an amount effective to enhance the activity of the enzyme Prefcrred compounds for use in the method are imino sugars and related compounds

2002003, Mar 21, 2002

Sep 7, 2001

09/948348

Jian-Qiang Fan - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US

Mount Sinai School of Medicine of New York University.

A61K031/70, A61K031/435, A61K031/445

514/025000, 514/028000, 514/277000, 514/281000, 514/315000

Method fore enhancing in a mammalian cell the activity of an enzyme associated with a lysosomal storage disorder by administering a competitive inhibitor of the enzyme in an amount effective to enhance the activity of the enzyme. Preferred compounds for use in the method are imino sugars and related compounds.

5773278, Jun 30, 1998

May 3, 1991

7/695472

Edward H. Schuchman - New York NY
Robert J. Desnick - New York NY

Mount Sinai Medical Center - New York NY

C12N 506, C12N 1585, C07H 2104

435358

The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.

8349319, Jan 8, 2013

Aug 28, 2010

12/870790

Edward H. Schuchman - Haworth NJ, US
Robert J. Desnick - New York NY, US
Gerald F. Cox - Needham MA, US
Laura P. Andrews - Bolton MA, US
James M. Murray - Shrewsbury MA, US

Mount Sinai School of Medicine - New York NY
Genzyme Corporation - Cambridge MA

A61K 38/46

424 946, 424 9461

The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.