AAVAnc80-hOTOF

	AAVAnc80-hOTOF AAVAnc80-hOTOF is an experimental gene therapy Gene therapy is Health technology, medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. The first attempt at modifying human DNA ... for otoferlin gene-mediated hearing loss. References {{reflist Experimental gene therapies ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Otoferlin Otoferlin is a protein that in humans is encoded by the ''OTOF'' gene. It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated with a genetic form of deafness. Function There are two forms of otoferlin protein. The short form of the protein has three C2 domains and a single carboxy-terminal transmembrane domain found also in the ''C. elegans'' spermatogenesis factor FER-1 and human dysferlin. The long form has six C2 domains. Dysferlin and myoferlin are proteins found in humans that are homologous to otoferlin. Both dysferlin and myoferlin have seven C2 domains. A C2 domain is a protein structural domain involved in targeting proteins to cell membranes. C2A in otoferlin's longer form, with six C2 domains, is structurally similar to dysferlin C2A. However, loop 1 in the calcium (Ca2+) binding site of otoferlin C2A is significantly shorter than the homologous loop in dysferlin and myoferlin C2A domains. Therefore, it is unable to bind to cal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Gene Therapy Gene therapy is Health technology, medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. The first attempt at modifying human DNA was performed in 1980, by Martin Cline, but the first successful nuclear gene transfer in humans, approved by the National Institutes of Health, was performed in May 1989. The first therapeutic use of gene transfer as well as the first direct insertion of human DNA into the nuclear genome was performed by French Anderson in a trial starting in September 1990. Between 1989 and December 2018, over 2,900 clinical trials were conducted, with more than half of them in Phases of clinical research, phase I. In 2003, Gendicine became the first gene therapy to receive regulatory approval. Since that time, further gene therapy drugs were approved, such as alipogene tiparvovec (2012), Strimvelis (2016), tisagenlecleucel (2017), voretigene neparvovec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]