Literature
Primary literature citations for gene therapy components. Each reference includes full citation details, DOI links, and key findings. These publications establish the foundational knowledge for nuclease engineering, AAV serotype discovery, base editor development, and epigenome editing systems used in modern gene therapy.
| Citation | Journal | Title | Citations |
|---|---|---|---|
| Abudayyeh et al. (2017) | Nature | RNA targeting with CRISPR-Cas13 | 2384 |
| Adra et al. (1987) | Gene | Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter | 427 |
| Anzalone et al. (2019) | Nature | Search-and-replace genome editing without double-strand breaks or donor DNA | 5334 |
| Atchison et al. (1965) | Science | Adenovirus-associated defective virus particles | 1516 |
| Bantel-Schaal et al. (1999) | J Virol | Human adeno-associated virus type 5 is only distantly related to other known primate helper-dependent parvoviruses | 260 |
| Boshart et al. (1985) | Cell 41:521-530 | A very strong enhancer is located upstream of an immediate early gene of human cytomegalovirus | 1844 |
| Bowles et al. (2012) | Mol Ther | Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector | 516 |
| Brummelkamp et al. (2002) | Science | A system for stable expression of short interfering RNAs in mammalian cells | 6921 |
| Buck et al. (2020) | Int J Mol Sci | Recombinant adeno-associated viral vectors (rAAV)-vector elements in ocular gene therapy clinical trials and transgene expression and bioactivity assays | 0 |
| Carroll et al. (2016) | Proc Natl Acad Sci USA | A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9 | 238 |
| Cearley et al. (2008) | Mol Ther | Expanded repertoire of AAV vector serotypes mediate unique patterns of transduction in mouse brain | 236 |
| Chalfie et al. (1994) | Science | Green fluorescent protein as a marker for gene expression | 10788 |
| Challis et al. (2019) | Nat Protoc | Systemic AAV vectors for widespread and targeted gene delivery in rodents | 470 |
| Chan et al. (2017) | Nat Neurosci | Engineered AAVs for efficient noninvasive gene delivery to the central nervous system | 1674 |
| Chavez et al. (2015) | Nat Methods | Highly efficient Cas9-mediated transcriptional programming | 1940 |
| Chen et al. (2021) | Nat Commun | Programmable C:G to G:C genome editing with CRISPR-Cas9-directed base excision repair proteins | 218 |
| Chen et al. (2021) | Cell | Enhanced prime editing systems by manipulating cellular determinants of editing outcomes | 811 |
| Chiu et al. (1996) | Curr Biol | Engineered GFP as a vital reporter in plants | 0 |
| Choudhury et al. (2016) | Mol Ther | Viral vectors for therapy of neurologic diseases | 240 |
| Cong et al. (2013) | Science | Multiplex genome engineering using CRISPR/Cas systems | 20340 |
| Cormack et al. (1996) | Gene | FACS-optimized mutants of the green fluorescent protein (GFP) | 4491 |
| Davis et al. (2022) | Nat Biomed Eng | Efficient in vivo base editing via single adeno-associated viruses with size-optimized genomes encoding compact adenine base editors | 192 |
| Deken et al. (2016) | Int J Mol Sci | Dermal delivery of constructs encoding Cre recombinase to induce skin tumors in PtenLoxP/LoxP;BrafCA/+ mice | 0 |
| DeNoto et al. (1981) | Nucleic Acids Res | Human growth hormone DNA sequence and mRNA structure: possible alternative splicing | 650 |
| Deverman et al. (2016) | Nat Biotechnol | Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain | 1277 |
| Deverman et al. (2018) | Nat Protoc | Gene therapy for neurological disorders: progress and prospects | 430 |
| Edraki et al. (2019) | Mol Cell | A compact, high-accuracy Cas9 with a dinucleotide PAM for in vivo genome editing | 322 |
| Esvelt et al. (2013) | Nat Methods | Orthogonal Cas9 proteins for RNA-guided gene regulation and editing | 1172 |
| Evan et al. (1985) | Mol Cell Biol | Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product | 3200 |
| Excoffon et al. (2009) | Proc Natl Acad Sci USA | Directed evolution of adeno-associated virus to an infectious respiratory virus | 241 |
| Foust et al. (2009) | Nat Biotechnol | Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes | 1754 |
| Gao et al. (2002) | Proc Natl Acad Sci USA | Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy | 2065 |
| Gao et al. (2004) | J Virol | Clades of Adeno-associated viruses are widely disseminated in human tissues | 1509 |
| Gaudelli NM, Komor AC, Rees HA, et al. (2017) | Nature 551:464-471 | Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage | 4827 |
| Gaudelli et al. (2020) | Nat Biotechnol | Directed evolution of adenine base editors with increased activity and therapeutic application | 665 |
| George et al. (2017) | N Engl J Med | Hemophilia B gene therapy with a high-specific-activity factor IX variant | 887 |
| Goodwin & Rottman (1992) | J Biol Chem | The 3'-flanking sequence of the bovine growth hormone gene contains novel elements required for efficient and accurate polyadenylation | 162 |
| Gossen et al. (1992) | Proc Natl Acad Sci USA | Tight control of gene expression in mammalian cells by tetracycline-responsive promoters | 7281 |
| Gossen et al. (1995) | Science | Transcriptional activation by tetracyclines in mammalian cells | 3720 |
| Gradinaru et al. (2008) | Brain Cell Biol | eNpHR: a Natronomonas halorhodopsin enhanced for optogenetic applications | 0 |
| Grimm et al. (2008) | J Virol | In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-associated viruses | 940 |
| Guan et al. (2025) | Nat. Struct. Mol. Biol. | Comparative characterization of Cas12f orthologs reveals mechanistic features underlying enhanced genome editing efficiency | — |
| Hall et al. (2012) | ACS Chem Biol | Engineered luciferase reporter from a deep sea shrimp utilizing a novel imidazopyrazinone substrate | 0 |
| Hauck et al. (2020) | Mol Ther Methods Clin Dev | Generation and characterization of chimeric recombinant AAV vectors | 230 |
| Hilton et al. (2015) | Nat Biotechnol | Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers | 2397 |
| Hordeaux et al. (2018) | Mol Ther | The GPI-linked protein LY6A drives AAV-PHP.B transport across the blood-brain barrier | 258 |
| Hordeaux et al. (2019) | Sci Transl Med | The GPI-linked protein LY6A drives AAV-PHP.B transport across the blood-brain barrier | 258 |
| Hu et al. (2018) | Nature | Evolved Cas9 variants with broad PAM compatibility and high DNA specificity | 1903 |
| Huang et al. (2019) | Neuron | Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids | 276 |
| Janitzky et al. (2015) | Front. Behav. Neurosci. | Optogenetic silencing of locus coeruleus activity in mice impairs cognitive flexibility in an attentional set-shifting task | 0 |