C
Catherine B. Kunst
Researcher at University of Denver
Publications - 19
Citations - 4860
Catherine B. Kunst is an academic researcher from University of Denver. The author has contributed to research in topics: SOD1 & Fragile X syndrome. The author has an hindex of 15, co-authored 19 publications receiving 4669 citations. Previous affiliations of Catherine B. Kunst include Emory University & Case Western Reserve University.
Papers
More filters
Journal ArticleDOI
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Annemiske J.M.H. Verkerk,Maura Pieretti,James S. Sutcliffe,Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Orly Reiner,Stephen Richards,Maureen F. Victoria,Fuping Zhang,Bert Eussen,Gert-Jan B. van Ommen,Lau Blonden,Gregory J. Riggins,Jane L. Chastain,Catherine B. Kunst,Hans Galjaard,C. Thomas Caskey,David L. Nelson,Ben A. Oostra,Stephen T. Warren +20 more
TL;DR: A fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes is identified and localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.
Journal ArticleDOI
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
TL;DR: Normal alleles with greater than 24 perfect 3' CGG repeats appear more frequently on haplotypes overrepresented among fragile X chromosomes, suggesting stability differences between the leading and lagging strands of DNA replication.
Journal ArticleDOI
Human and murine FMR-1 : alternative splicing and translational initiation downstream of the CGG–repeat
Claude T. Ashley,James S. Sutcliffe,James S. Sutcliffe,Catherine B. Kunst,Harold A. Leiner,Evan E. Eichler,David L. Nelson,Stephen T. Warren +7 more
TL;DR: The isolation and characterization of cDNA clones encoding the murine homologue, fmr–1, are reported, which exhibit marked sequence identity with the human gene, including the conservation of the CGG repeat.
Journal ArticleDOI
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.
TL;DR: Two proteins, lysyl-tRNA synthetase and translocon-associated protein delta, interact with mutant forms of S OD1 but not with wild-type SOD1, and are expressed in ventral cord, lending support to the relevance of this interaction to motor neuron disease.
Journal ArticleDOI
Copper Activation of Superoxide Dismutase 1 (SOD1) in Vivo ROLE FOR PROTEIN-PROTEIN INTERACTIONS WITH THE COPPER CHAPERONE FOR SOD1
TL;DR: Yeast CCS was observed to insert copper into a pre-existing pool of apoSOD1 without the need for new SOD1 synthesis or for protein unfolding by the major SSA cytosolic heat shock proteins.