Disclosed are isolated polynucleotides containing nucleic acid segments encoding human or murine ATP sulfurylase/APS kinase, also known as PAPS synthetase (PAPSS), particularly PAPSS2 and Papss2 proteins. Also disclosed are nucleic acid constructs, including vectors, probes, primers, and primer pairs containing novel PAPSS2 and Papss2 gene sequences. A genetically modified vertebrate cell containing a nucleic acid construct of the present invention and a non-human vertebrate comprising the cell are also disclosed. Based on the present PAPSS2-specific polynucleotides and nucleic acid constructs, are genetic testing kits and methods for diagnosing spondyloepimetaphyseal dysplasia (SEMD) in a human subject, of identifying a human carrier of an heritable allele associated with SEMD, and of gene therapy or protein therapy for treating a human subject having an osteoarthritic disorder, which is caused or aggravated by deficient enzymatic sulfation activity. Also disclosed is a protein therapy method for treating a human subject having an osteoarthritic disorder caused or aggravated by deficient enzymatic sulfation activity that employs an inventive PAPSS2 fusion protein. Also disclosed are an isolated antibody or antibody fragment that selectively binds a PAPSS2 or Papss2 protein.
3-Phosphoadenosine-5-Phosphosulfate (Paps) Synthetase Proteins And Methods For Treating Osteoarthritic Disorders
Daniel H. Cohn - Santa Monica CA Muhammad Faiyaz-Ul-Haque - Islamabad, PK Lily King - Los Angeles CA Deborah Krakow - Los Angeles CA
Assignee:
Cedars Sinai Medical Center - Los Angeles CA
International Classification:
C12N 912
US Classification:
435194, 4352523, 4353201, 536 232, 4241921
Abstract:
Disclosed are isolated polynucleotides containing nucleic acid segments encoding human or murine ATP sulfurylase/APS kinase, also known as PAPS synthetase (PAPSS), particularly PAPSS2 and Papss2 proteins. Also disclosed are nucleic acid constructs, including vectors, probes, primers, and primer pairs containing novel PAPSS2 and Papss2 gene sequences. A genetically modified vertebrate cell containing a nucleic acid construct of the present invention and a non-human vertebrate comprising the cell are also disclosed. Based on the present PAPSS2-specific polynucleotides and nucleic acid constructs, are genetic testing kits and methods for diagnosing spondyloepimetaphyseal dysplasia (SEMD) in a human subject, of identifying a human carrier of an heritable allele associated with SEMD, and of gene therapy or protein therapy for treating a human subject having an osteoarthritic disorder, which is caused or aggravated by deficient enzymatic sulfation activity. Also disclosed is a protein therapy method for treating a human subject having an osteoarthritic disorder caused or aggravated by deficient enzymatic sulfation activity that employs an inventive PAPSS2 fusion protein. Also disclosed are an isolated antibody or antibody fragment that selectively binds a PAPSS2 or Papss2 protein.
Resumes
Professor Of Human Genetics And Orthopaedic Surgery
Ucla Health
Professor of Human Genetics and Orthopaedic Surgery
Education:
David Geffen School of Medicine at Ucla 1993 - 1995
Chicago Medical School at Rosalind Franklin U - Med & Science 1980 - 1984
Doctor of Medicine, Doctorates, Medicine
Arizona State University 1975 - 1979
Bachelors, Bachelor of Science, History
Skills:
Clinical Research Genetics Molecular Biology Genomics Cell Biology Medical Education
Chicago Medical School at Rosalind Franklin U - Med & Science 1984 - 1988
Doctor of Medicine, Doctorates, Medicine
Arizona State University 1979 - 1984
Bachelors, Bachelor of Science, History
Center For Fetal Medicine & Womens Ultrasound 6310 San Vicente Blvd STE 520, Los Angeles, CA 90048 3238571952 (phone), 3238575336 (fax)
UCLA Orthopedic Surgery 615 Charles E Young Dr, Los Angeles, CA 90095 3109831252 (phone), 3108255409 (fax)
Education:
Medical School Rosalind Franklin University/ Chicago Medical School Graduated: 1984
Conditions:
Complicating Pregnancy or Childbirth Conditions of Pregnancy and Delivery Diabetes Mellitus Complicating Pregnancy or Birth Uncomplicated or Low Risk Pregnancy and Delivery Pregnancy-Induced Hypertension
Languages:
English Spanish
Description:
Dr. Krakow graduated from the Rosalind Franklin University/ Chicago Medical School in 1984. She works in Los Angeles, CA and 1 other location and specializes in Obstetrics & Gynecology and Genetics, Medical. Dr. Krakow is affiliated with Cedars-Sinai Medical Center and Providence Saint Johns Health Center.
8700 Beverly Blvd, West Hollywood, CA 90048 10833 Le Conte Ave, Los Angeles, CA 90095
Education:
Rosalind Franklin University, Chicago Medical School - Doctor of Medicine Cedars-Sinai Medical Center - Residency - Obstetrics and Gynecology
Board certifications:
American Board of Medical Genetics Certification in Clinical Genetics (MD) (Medical Genetics) American Board of Obstetrics and Gynecology Certification in Obstetrics & Gynecology American Board of Obstetrics and Gynecology Sub-certificate in Maternal and Fetal Medicine (Obstetrics & Gynecology)
Name / Title
Company / Classification
Phones & Addresses
Deborah Krakow
Deborah Krakow MD Genetic Medicine · Orthopedics · Obgyn
8700 Beverly Blvd, Los Angeles, CA 90048 8002332771
Deborah Krakow Medical Doctor
Ucla Med Ctr. - Opd Ret Drugs/Sundries
650 Charles E Young Dr S, Los Angeles, CA 90095
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