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A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. Grau T, et al. Among authors: delprat b. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. J Med Genet. 2013. PMID: 24136862
Wolfram syndrome: MAMs' connection?
Delprat B, Maurice T, Delettre C. Delprat B, et al. Cell Death Dis. 2018 Mar 6;9(3):364. doi: 10.1038/s41419-018-0406-3. Cell Death Dis. 2018. PMID: 29511163 Free PMC article. Review.
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.
Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C. Buret L, et al. Among authors: delprat b. Cell Death Discov. 2016 Mar 7;2:16017. doi: 10.1038/cddiscovery.2016.17. Cell Death Discov. 2016. PMID: 27275396 Free PMC article.
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome.
Angebault C, Fauconnier J, Patergnani S, Rieusset J, Danese A, Affortit CA, Jagodzinska J, Mégy C, Quiles M, Cazevieille C, Korchagina J, Bonnet-Wersinger D, Milea D, Hamel C, Pinton P, Thiry M, Lacampagne A, Delprat B, Delettre C. Angebault C, et al. Among authors: delprat b. Sci Signal. 2018 Oct 23;11(553):eaaq1380. doi: 10.1126/scisignal.aaq1380. Sci Signal. 2018. PMID: 30352948 Free article.
Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.
Crouzier L, Richard EM, Diez C, Alzaeem H, Denus M, Cubedo N, Delaunay T, Glendenning E, Baxendale S, Liévens JC, Whitfield TT, Maurice T, Delprat B. Crouzier L, et al. Among authors: delprat b. Hum Mol Genet. 2022 Aug 23;31(16):2711-2727. doi: 10.1093/hmg/ddac065. Hum Mol Genet. 2022. PMID: 35325133 Free PMC article.
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Crouzier L, Danese A, Yasui Y, Richard EM, Liévens JC, Patergnani S, Couly S, Diez C, Denus M, Cubedo N, Rossel M, Thiry M, Su TP, Pinton P, Maurice T, Delprat B. Crouzier L, et al. Among authors: delprat b. Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. Sci Transl Med. 2022. PMID: 35138910 Free PMC article.
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