Molecular pathogenesis of Wilson and Menkes disease: Correlation of mutations with molecular defects and disease phenotypes

De Bie, P.; Muller, P.; Wijmenga, C.; Klomp, L.W.J.

doi:10.1136/jmg.2007.052746

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Filensin (BFSP1) and CP49 (BFSP2) represent two members of the IF protein superfamily that are thus far exclusively expressed in the eye lens. Mutations in both proteins cause lens cataract and careful consideration of the detail of these cataract ph... Read More about Insights into the beaded filament of the eye lens.

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Skrisovska, L., Bourgeois, C., Stefl, R., Grellscheid, S., Kister, L., Wenter, P., …Allain, F. (2007). The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. EMBO Reports, 8(4), 372-379. https://doi.org/10.1038/sj.embor.7400910

The RBMY (RNA‐binding motif gene on Y chromosome) protein encoded by the human Y chromosome is important for normal sperm development. Although its precise molecular RNA targets are unknown at present, it is suggested that human RBMY (hRBMY) particip... Read More about The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction..

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Molecular pathogenesis of Wilson and Menkes disease: Correlation of mutations with molecular defects and disease phenotypes (2007)
Journal Article
De Bie, P., Muller, P., Wijmenga, C., & Klomp, L. (2007). Molecular pathogenesis of Wilson and Menkes disease: Correlation of mutations with molecular defects and disease phenotypes. Journal of Medical Genetics, 44(11), 673-688. https://doi.org/10.1136/jmg.2007.052746

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