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Your search keyword '"Bocquet, Béatrice"' showing total 4 results
Start Over Author "Bocquet, Béatrice" Publisher american society for clinical investigation
4 results on '"Bocquet, Béatrice"'

1. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Author

Bocquet, Béatrice, primary, Borday, Caroline, additional, Erkilic, Nejla, additional, Mamaeva, Daria, additional, Donval, Alicia, additional, Masson-Garcia, Christel, additional, Parain, Karine, additional, Kaminska, Karolina, additional, Quinodoz, Mathieu, additional, Perea-Romero, Irene, additional, Garcia-Garcia, Gema, additional, Jimenez-Medina, Carla, additional, Boukhaddaoui, Hassan, additional, Coget, Arthur, additional, Leboucq, Nicolas, additional, Calzetti, Giacomo, additional, Gandolfi, Stefano A., additional, Percesepe, Antonio, additional, Barili, Valeria, additional, Uliana, Vera, additional, Delsante, Marco, additional, Bozzetti, Francesca, additional, Scholl, Hendrik P.N., additional, Corton, Marta, additional, Ayuso, Carmen, additional, Millan, Jose M., additional, Rivolta, Carlo, additional, Meunier, Isabelle, additional, Perron, Muriel, additional, and Kalatzis, Vasiliki, additional

Published
2023
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2. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Author

Ministerio de Ciencia, Innovación y Universidades (España), Ministerio de Economía y Competitividad (España), Generalitat de Catalunya, European Commission, Ministerio de Educación y Formación Profesional (España), Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Soler, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Solà, Maria, Delettre, Cécile, Ministerio de Ciencia, Innovación y Universidades (España), Ministerio de Economía y Competitividad (España), Generalitat de Catalunya, European Commission, Ministerio de Educación y Formación Profesional (España), Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Soler, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Solà, Maria, and Delettre, Cécile

Abstract

Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense mutations in single-strand binding protein 1 (SSBP1) in 5 unrelated families, leading to the R38Q and R107Q amino acid changes in the mitochondrial single-stranded DNA-binding protein, a crucial protein involved in mtDNA replication. All affected individuals presented optic atrophy, associated with foveopathy in half of the cases. To uncover the structural features underlying SSBP1 mutations, we determined a revised SSBP1 crystal structure. Structural analysis suggested that both mutations affect dimer interactions and presumably distort the DNA-binding region. Using patient fibroblasts, we validated that the R38Q variant destabilizes SSBP1 dimer/tetramer formation, affects mtDNA replication, and induces mtDNA depletion. Our study showing that mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy brings insights into mtDNA maintenance disorders.

Published
2020

3. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Author

Piro-Mégy, Camille, primary, Sarzi, Emmanuelle, additional, Tarrés-Solé, Aleix, additional, Péquignot, Marie, additional, Hensen, Fenna, additional, Quilès, Mélanie, additional, Manes, Gaël, additional, Chakraborty, Arka, additional, Sénéchal, Audrey, additional, Bocquet, Béatrice, additional, Cazevieille, Chantal, additional, Roubertie, Agathe, additional, Müller, Agnès, additional, Charif, Majida, additional, Goudenège, David, additional, Lenaers, Guy, additional, Wilhelm, Helmut, additional, Kellner, Ulrich, additional, Weisschuh, Nicole, additional, Wissinger, Bernd, additional, Zanlonghi, Xavier, additional, Hamel, Christian, additional, Spelbrink, Johannes N., additional, Sola, Maria, additional, and Delettre, Cécile, additional

Published
2019
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4. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.

Author

Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, and Wissinger, Bernd

Subjects
*LEBER'S hereditary optic atrophy, *MITOCHONDRIAL DNA, *ATROPHY, *DNA-binding proteins, *CARRIER proteins, *MISSENSE mutation
Abstract

Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense mutations in single-strand binding protein 1 (SSBP1) in 5 unrelated families, leading to the R38Q and R107Q amino acid changes in the mitochondrial single-stranded DNA-binding protein, a crucial protein involved in mtDNA replication. All affected individuals presented optic atrophy, associated with foveopathy in half of the cases. To uncover the structural features underlying SSBP1 mutations, we determined a revised SSBP1 crystal structure. Structural analysis suggested that both mutations affect dimer interactions and presumably distort the DNA-binding region. Using patient fibroblasts, we validated that the R38Q variant destabilizes SSBP1 dimer/tetramer formation, affects mtDNA replication, and induces mtDNA depletion. Our study showing that mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy brings insights into mtDNA maintenance disorders. [ABSTRACT FROM AUTHOR]

Published
2020
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