Vona, Barbara

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29.09.2025

International expert consensus on gene therapy for hereditary hearing loss: based on clinical trials

Authors Fan X, Gao Z, Zhong J, Chen Y, Chen X, Landegger LD, Moser T, Zeng FG, Sun Y, Jin X, Nash R, Chien WW, Jiang D, Greinwald JH, Bance M, Rodriguez MM, Lee SY, Feng G, Yang H, Wu CC, Xu L, Yuan W, Feng Y, Zhao Y, Vona
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08.09.2025

Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry

Authors Vona B, Wollnik B, Strenzke N, Pangrsic T, Moser T Journal MedComm Citation MedComm 6, no. 9 (2025): 6, e70363. Abstract CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non-syndromic
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15.05.2025

Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons

Authors Bastille I, Lee L, Moncada-Reid C, Yu WM, Sitko A, Yung A, Zamani M, Christophersen N, Maroofian R, Galehdari H, Babai N, Vona B, Moser T, Goodrich L Journal Cell Reports Citation Cell Rep 2025. accepted manuscript. Abstract Neurons develop diverse synapses that vary in content, morphology, and size.
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03.06.2024

Catching up but still miles behind — a patient registry for otoferlin

Authors Vona B, Wollnik B, Strenzke N, Moser T Journal Experimental & Molecular Medicine Citation Exp Mol Med (2024). Abstract No abstract available. DOI 10.1038/s12276-024-01247-6   Pubmed Link
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25.03.2024

Gene therapy for deafness: are we there now?

Authors Moser T, Chen H, Kusch K, Behr R, Vona B   Journal EMBO Molecular Medicine   Citation EMBO Mol Med. 2024 Mar 25.   Abstract No abstract available.   DOI 10.1038/s44321-024-00058-6   Pubmed Link
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20.03.2024

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

Authors Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y   Journal Cell Death & Disease   Citation Cell Death Dis 15, 229 (2024).   Abstract Craniofacial malformations, often associated with syndromes, are prevalent birth defects. Emerging
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13.03.2024

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Authors Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund
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08.12.2023

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing

Authors Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T Journal Protein & Cell Citation Protein & Cell. 2023 Dec 8:pwad058. accepted manuscript.
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29.11.2023

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Authors Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB,
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21.11.2023

Unraveling haplotype errors in the DFNA33 locus

Authors Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG Journal Frontiers in Genetics Citation Front. Genet. 14:1214736. Abstract Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic
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