Kuppareddi Balamurug Balamurugan

US Patent:

7217547, May 15, 2007

Filed:

Oct 1, 2001

Appl. No.:

09/965807

Inventors:

Reuben Matalon - Coral Gables FL, US
Rajinder Kaul - Miami FL, US
Guang Ping Cao - Miami FL, US
Kuppareddi Balamurugan - Miami FL, US

Assignee:

Miami Children's Hospital - Miami FL

International Classification:

C12N 9/00
C07K 14/00
A61K 38/46

US Classification:

435183, 530350, 424 946

Abstract:

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. Human aspartoacylase (ASP) cDNA spanning 1,435 bp has been cloned and expressed in. A base change, a854>c, has been found in 85% of the 34 Canavan alleles tested so far, which results in a missense glu285>ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits, methods of treating Canavan disease and methods of genetic therapy for the disease.

US Patent:

20070026452, Feb 1, 2007

Filed:

Oct 3, 2006

Appl. No.:

11/541665

Inventors:

Reuben Matalon - Coral Gables FL, US
Rajinder Kaul - Miami FL, US
Guang Cao - Miami FL, US
Kuppareddi Balamurugan - Miami FL, US

International Classification:

C12Q 1/68
G01N 33/53
C07H 21/04
C12P 21/06
C12N 9/80

US Classification:

435006000, 435069100, 435228000, 435320100, 435325000, 536023200, 435007100

Abstract:

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. Human aspartoacylase (ASP) cDNA spanning 1,435 bp has been cloned and expressed in . A base change, a854>c, has been found in 85% of the 34 Canavan alleles tested so far, which results in a missense glu285>ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits, methods of treating Canavan disease and methods of genetic therapy for the disease.

US Patent:

56796358, Oct 21, 1997

Filed:

Sep 9, 1994

Appl. No.:

8/302449

Inventors:

Reuben Matalon - Coral Gables FL
Rajinder Kaul - Miami FL
Guang Ping Gao - Miami FL
Kuppareddi Balamurugan - Miami FL

Assignee:

Miami Children's Hospital Research Institute, Inc. - Miami FL

International Classification:

C12Q 168
C12P 1934
C07H 2102
C07H 2104

US Classification:

435 6

Abstract:

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. Human aspartoacylase (ASP) cDNA spanning 1,435 bp has been cloned and expressed in E. coli. A base change, a854>c, has been found in 85% of the 34 Canavan alleles tested so far, which results in a missense glu285>ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. Several additional mutations have also been identified. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits, methods of treating Canavan disease and methods of genetic therapy for the disease.