AAV‐mediated Gene Cocktails Enhance Supporting Cell Reprogramming and Hair Cell Regeneration.

Autor: Zhang, Liyan¹ (AUTHOR), Chen, Xin¹ (AUTHOR), Wang, Xinlin¹ (AUTHOR), Zhou, Yinyi¹ (AUTHOR), Fang, Yuan¹ (AUTHOR), Gu, Xingliang¹ (AUTHOR), Zhang, Ziyu¹ (AUTHOR), Sun, Qiuhan¹ (AUTHOR), Li, Nianci¹ (AUTHOR), Xu, Lei^2,3 (AUTHOR) sdphxl@email.sdu.edu.cn, Tan, Fangzhi¹ (AUTHOR) 101013491@seu.edu.cn, Chai, Renjie^1,4,5,6,7 (AUTHOR) renjiec@seu.edu.cn, Qi, Jieyu^1,4,5 (AUTHOR) jieyuqi@seu.edu.cn

Publikováno v: Advanced Science. 8/7/2024, Vol. 11 Issue 29, p1-16. 16p.

14-3-3 Protein-Protein Interactions: From Mechanistic Understanding to Their Small-Molecule Stabilization.

Autor: Somsen BA; Department of Biomedical Engineering and Institute for Complex Molecular Systems, Laboratory of Chemical Biology, Eindhoven University of Technology, P.O. Box 513, MB Eindhoven, 5600, Eindhoven, The Netherlands., Cossar PJ; Department of Biomedical Engineering and Institute for Complex Molecular Systems, Laboratory of Chemical Biology, Eindhoven University of Technology, P.O. Box 513, MB Eindhoven, 5600, Eindhoven, The Netherlands., Arkin MR; Department of Pharmaceutical Chemistry and Small Molecule Discovery Center (SMDC), University of California, San Francisco, California, 94143, United States., Brunsveld L; Department of Biomedical Engineering and Institute for Complex Molecular Systems, Laboratory of Chemical Biology, Eindhoven University of Technology, P.O. Box 513, MB Eindhoven, 5600, Eindhoven, The Netherlands., Ottmann C; Department of Biomedical Engineering and Institute for Complex Molecular Systems, Laboratory of Chemical Biology, Eindhoven University of Technology, P.O. Box 513, MB Eindhoven, 5600, Eindhoven, The Netherlands.

Publikováno v: Chembiochem : a European journal of chemical biology [Chembiochem] 2024 Jul 15; Vol. 25 (14), pp. e202400214. Date of Electronic Publication: 2024 Jun 24.

Deletion mapping of the Aicardi and Goltz syndrome genes to the Xp22.3-Xp22.2 region

Autor: M. C. Wapenaar, L. Schaefer, A. Grillo, G. B. Ferrero, H. Y. Zoghbi, FRANCO, BRUNELLA, BALLABIO, ANDREA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::a43436ff4093d0edb6a004424bf3809d
http://hdl.handle.net/11588/352024

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Autor: R E, Amir, I B, Van den Veyver, R, Schultz, D M, Malicki, C Q, Tran, E J, Dahle, A, Philippi, L, Timar, A K, Percy, K J, Motil, O, Lichtarge, E O, Smith, D G, Glaze, H Y, Zoghbi

Publikováno v: Annals of neurology. 47(5)

We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13364c0be929d2307da04ad01167f981
https://pubmed.ncbi.nlm.nih.gov/10805343

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

Autor: T, Matsuura, M, Achari, M, Khajavi, L L, Bachinski, H Y, Zoghbi, T, Ashizawa

Publikováno v: Annals of neurology. 45(3)

We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d497c536415e418e28b4a7a762ae4e72
https://pubmed.ncbi.nlm.nih.gov/10072060