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5 results on '"Bessonova, Liudmila"'

1. Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

Author

Markova, Tatiana V., primary, Kenis, Vladimir M., additional, Melchenko, Evgenii V., additional, Reshchikov, Dmitry A., additional, Alieva, Aynur E., additional, Osipova, Darya V., additional, Bessonova, Liudmila A., additional, Nagornova, Tatiana S., additional, Vasserman, Natalya N., additional, Ogorodova, Natalya Yu., additional, Shchagina, Olga A., additional, and Dadali, Elena L., additional

Published
2023
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2. Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

Author

Shatokhina, Olga, primary, Galeeva, Nailya, additional, Stepanova, Anna, additional, Markova, Tatiana, additional, Lalayants, Maria, additional, Alekseeva, Natalia, additional, Tavarkiladze, George, additional, Bessonova, Liudmila, additional, Petukhova, Marina, additional, Guseva, Daria, additional, Anisimova, Inga, additional, Polyakov, Alexander, additional, Ryzhkova, Oxana, additional, and Bliznetz, Elena, additional

Published
2022
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4. De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Author

Gregor, Anne, primary, Meerbrei, Tanja, additional, Gerstner, Thorsten, additional, Toutain, Annick, additional, Lynch, Sally Ann, additional, Stals, Karen, additional, Maxton, Caroline, additional, Lemke, Johannes R, additional, Bernat, John A, additional, Bombei, Hannah M, additional, Foulds, Nicola, additional, Hunt, David, additional, Kuechler, Alma, additional, Beygo, Jasmin, additional, Stöbe, Petra, additional, Bouman, Arjan, additional, Palomares-Bralo, Maria, additional, Santos-Simarro, Fernando, additional, Garcia-Minaur, Sixto, additional, Pacio-Miguez, Marta, additional, Popp, Bernt, additional, Vasileiou, Georgia, additional, Hebebrand, Moritz, additional, Reis, André, additional, Schuhmann, Sarah, additional, Krumbiegel, Mandy, additional, Brown, Natasha J, additional, Sparber, Peter, additional, Melikyan, Lyusya, additional, Bessonova, Liudmila, additional, Cherevatova, Tatiana, additional, Sharkov, Artem, additional, Shcherbakova, Natalia, additional, Dabir, Tabib, additional, Kini, Usha, additional, Schwaibold, Eva M C, additional, Haack, Tobias B, additional, Bertoli, Marta, additional, Hoffjan, Sabine, additional, Falb, Ruth, additional, Shinawi, Marwan, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2021
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5. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Author

Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, and Zweier C

Subjects
HEK293 Cells, HeLa Cells, Humans, Mutation, Missense genetics, Protein-Arginine N-Methyltransferases genetics, F-Box Proteins genetics, Intellectual Disability genetics, Neurodevelopmental Disorders genetics
Abstract

Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic spectrum remains highly variable, with developmental delay and/or intellectual disability as the core feature and behavioral anomalies, hypotonia and various facial dysmorphism as frequent aspects. The mutational spectrum includes intragenic deletions, likely gene disrupting and missense variants distributed across the protein. To further characterize the functional consequences of FBXO11 missense variants, we analyzed their effects on protein expression and localization by overexpression of 17 different mutant constructs in HEK293 and HeLa cells. We found that the majority of missense variants resulted in subcellular mislocalization and/or reduced FBXO11 protein expression levels. For instance, variants located in the nuclear localization signal and the N-terminal F-Box domain lead to altered subcellular localization with exclusion from the nucleus or the formation of cytoplasmic aggregates and to reduced protein levels in western blot. In contrast, variants localized in the C-terminal Zn-finger UBR domain lead to an accumulation in the cytoplasm without alteration of protein levels. Together with the mutational data, our functional results suggest that most missense variants likely lead to a loss of the original FBXO11 function and thereby highlight haploinsufficiency as the most likely disease mechanism for FBXO11-associated NDDs., (© The Author(s) 2021. Published by Oxford University Press.)

Published
2022
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