P
Paula J. Waters
Researcher at Université de Sherbrooke
Publications - 74
Citations - 2823
Paula J. Waters is an academic researcher from Université de Sherbrooke. The author has contributed to research in topics: Hyperphenylalaninemia & Phenylalanine hydroxylase. The author has an hindex of 26, co-authored 72 publications receiving 2584 citations. Previous affiliations of Paula J. Waters include Boston Children's Hospital & McGill University Health Centre.
Papers
More filters
Journal ArticleDOI
Monogenic traits are not simple: lessons from phenylketonuria
TL;DR: Phenylketonuria is a classic 'monogenic' autosomal recessive disease in which mutation at the human PAH locus was deemed sufficient to explain the impaired function of the enzyme phenylalanine hydroxylase, the attendant hyperphenylalaninemia and the resultant mental retardation.
Journal ArticleDOI
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C. Wong,Robert K. Naviaux,Nicola Brunetti-Pierri,Qing Zhang,Eric S. Schmitt,Cavatina K. Truong,Margherita Milone,Bruce H. Cohen,Beverly Wical,Jaya Ganesh,Alice Basinger,Barbara K. Burton,Kathryn J. Swoboda,Donald L. Gilbert,Adeline Vanderver,Russell P. Saneto,Bruno Maranda,Georgianne L. Arnold,Jose E. Abdenur,Paula J. Waters,William C. Copeland +20 more
TL;DR: In this article, the exons and flanking intron region from approximately 350 patients displaying a phenotype consistent with inherited mitochondrial disease and found informative mutations in 61 (17%) of them.
Journal ArticleDOI
Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
Emre Kayaalp,Eileen P. Treacy,Eileen P. Treacy,Paula J. Waters,Paula J. Waters,Susan Byck,Piotr M. Nowacki,Piotr M. Nowacki,Charles R. Scriver +8 more
TL;DR: The majority of PAH mutations confer a consistent phenotype and that this is concordant with their effects, when known, predicted from in vitro expression analysis, however, significant inconsistencies reveal that the HPA-phenotype is more complex than that predicted by Mendelian inheritance of alleles at the PAH locus.
Journal ArticleDOI
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
Renata C. Gallagher,Johan L.K. Van Hove,Gunter Scharer,Keith Hyland,Barbara Plecko,Paula J. Waters,Saadet Mercimek-Mahmutoglu,Sylvia Stockler-Ipsiroglu,Gajja S. Salomons,Efraim H. Rosenberg,Eduard A. Struys,Cornelis Jakobs +11 more
TL;DR: Two patients are reported whose CSF showed the marker of folinic acid–responsive seizures, but who responded clinically to pyridoxine, and genetic and biochemical testing was performed on these patients, and seven others, to determine the relation between these two disorders.
Journal ArticleDOI
PAHdb 2003: what a locus-specific knowledgebase can do.
Charles R. Scriver,Charles R. Scriver,Mélarnie Hurtubise,David Konecki,Manyphong Phommarinh,Lynne Prevost,Heidi Erlandsen,Raymond C. Stevens,Paula J. Waters,Shannon Ryan,David Mcdonald,Christineh N. Sarkissian +11 more
TL;DR: The majority (63%) of the putative pathogenic PAH alleles are point mutations causing missense in translation of which few have a primary effect on PAH enzyme kinetics, and most apparently have a secondary effect on its function through misfolding, aggregation, and intracellular degradation of the protein.