N
Nancy Braverman
Researcher at McGill University
Publications - 128
Citations - 8128
Nancy Braverman is an academic researcher from McGill University. The author has contributed to research in topics: Rhizomelic chondrodysplasia punctata & Peroxisome. The author has an hindex of 41, co-authored 112 publications receiving 7006 citations. Previous affiliations of Nancy Braverman include Johns Hopkins University & Virginia Commonwealth University.
Papers
More filters
Journal ArticleDOI
Functions of plasmalogen lipids in health and disease.
Nancy Braverman,Ann B. Moser +1 more
TL;DR: Current knowledge of plasmalogen biology in health and disease is presented and secondary plAsmalogen deficiencies associated with more common disorders are revealed.
Journal ArticleDOI
Peroxisome biogenesis disorders.
Steven J. Steinberg,Gabriele Dodt,Gerald V. Raymond,Nancy Braverman,Ann B. Moser,Ann B. Moser,Hugo W. Moser,Hugo W. Moser +7 more
TL;DR: Studies of the cellular and molecular defects in PBD patients have contributed significantly to the understanding of the role of each PEX gene in peroxisome assembly.
Journal ArticleDOI
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Jerry Vockley,Hans C. Andersson,Kevin M. Antshel,Nancy Braverman,Barbara K. Burton,Dianne M. Frazier,John J. Mitchell,Wendy E. Smith,Barry H. Thompson,Susan A. Berry +9 more
TL;DR: Treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenyalanine in the range of 120–360 µmol/l, and any interventions, including medications, or combination of therapies that help to achieve that goal in an individual, without other negative consequences, should be considered appropriate therapy.
Journal ArticleDOI
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Nancy Braverman,Gary Steel,Cassandra Obie,Ann B. Moser,Hugo W. Moser,Stephen Jay Gould,David Valle +6 more
TL;DR: It is concluded that PEX7 is responsible for RCDP (PBD CG11), and a founder effect may explain the high frequency of L292ter, and homology probing found that expression of either corrects the PTS2-import defect characteristic of RCDP cells.
Journal ArticleDOI
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
Gabriele Dodt,Nancy Braverman,Candice Wong,Ann B. Moser,Hugo W. Moser,Paul A. Watkins,David Valle,Stephen Jay Gould +7 more
TL;DR: It is proposed that PXR1 protein recognizes PTS1 –containing proteins in the cytosol and directs them to the peroxisome and rescue the PTS1 import defect of fibroblasts from these patients.