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3 results on '"Moffat, Michelle"'

1. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Author

Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., Tekin, Mustafa, Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., and Tekin, Mustafa

Published
2015

2. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Author

Genetica Klinische Genetica, Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., Tekin, Mustafa, Genetica Klinische Genetica, Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., and Tekin, Mustafa

Published
2015

3. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Author

Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, and Tekin M

Subjects
Animals, Cell Line, Tumor, Female, Humans, Male, Mice, Mice, Mutant Strains, Proteasome Endopeptidase Complex genetics, Proteasome Endopeptidase Complex metabolism, Protein Stability, Protein Structure, Tertiary, Abnormalities, Multiple genetics, Abnormalities, Multiple metabolism, Bone Diseases, Developmental genetics, Bone Diseases, Developmental metabolism, Cell Cycle genetics, DNA-Binding Proteins genetics, DNA-Binding Proteins metabolism, Facies, Intellectual Disability genetics, Intellectual Disability metabolism, Mutation, Proteolysis, Repressor Proteins genetics, Repressor Proteins metabolism, Tooth Abnormalities genetics, Tooth Abnormalities metabolism
Abstract

Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and that the ANKRD11 C-terminus is required for the degradation of the protein. Analysis of 11 pathogenic ANKRD11 variants in humans, including six reported in this study, and one reported in the Ankrd11 (Yod/+) mouse, shows that all mutations affect the C-terminal regions and that the mutant proteins accumulate aberrantly. In silico analysis shows the presence of D-box sequences that are signals for proteasome degradation. We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.

Published
2015
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