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 |
|---|---|---|---|
| Ablain et al. (2015) | Dev Cell | A CRISPR/Cas9 vector system for tissue-specific gene disruption in zebrafish | 380 |
| Abudayyeh et al. (2017) | Nature | RNA targeting with CRISPR-Cas13 | 2194 |
| Adra et al. (1987) | Gene | Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter | 352 |
| Agudelo et al. (2020) | Genome Res | Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9 | 81 |
| Ahlskog et al. (2020) | Gene Ther | Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice | 7 |
| Ahmad et al. (2012) | PLoS ONE | The GPI anchor signal sequence dictates the folding and functionality of the Als5 adhesin from Candida albicans | 17 |
| Akerberg et al. (2014) | PLoS ONE | Spatial and temporal control of transgene expression in zebrafish | 42 |
| Al Batran et al. (2018) | Diabetologia | Skeletal muscle-specific Cre recombinase expression, controlled by the human α-skeletal actin promoter, improves glucose tolerance in mice fed a high-fat diet | 10 |
| Amrani et al. (2018) | Genome Biol | NmeCas9 is an intrinsically high-fidelity genome-editing platform | 135 |
| Anastassiadis et al. (2009) | Dis Model Mech | Dre recombinase, like Cre, is a highly efficient site-specific recombinase in E. coli, mammalian cells and mice | 330 |
| Angelichio et al. (1991) | Nucleic Acids Res | Comparison of several promoters and polyadenylation signals for use in heterologous gene expression in cultured Drosophila cells | 63 |
| Anzalone et al. (2019) | Nature | Search-and-replace genome editing without double-strand breaks or donor DNA | 4944 |
| Aschauer et al. (2013) | PLoS ONE | Analysis of transduction efficiency, tropism and axonal transport of AAV serotypes 1, 2, 5, 6, 8 and 9 in the mouse brain | — |
| Atchison et al. (1965) | Science | Adenovirus-associated defective virus particles | 1003 |
| Auclair et al. (2026) | Pharmaceutics | Artificial intelligence and the transformation of cell and gene therapy development | 7 |
| Balciunas et al. (2006) | PLoS Genetics | Harnessing a High Cargo-Capacity Transposon for Genetic Applications in Vertebrates | 343 |
| Banaszynski et al. (2006) | Cell | A rapid, reversible, and tunable method to regulate protein function in living cells using synthetic small molecules | 970 |
| Bantel-Schaal et al. (1999) | J Virol | Human adeno-associated virus type 5 is only distantly related to other known primate helper-dependent parvoviruses | 128 |
| Beckett et al. (1999) | Protein Sci | A minimal peptide substrate in biotin holoenzyme synthetase-catalyzed biotinylation | 762 |
| Bell et al. (2013) | Protein Sci | To fuse or not to fuse: what is your purpose? | 142 |
| Beyer et al. (2015) | PLoS ONE | AQUA Cloning: A Versatile and Simple Enzyme-Free Cloning Approach | 217 |
| Borza et al. (2025) | Trends Cell Biol | Unlocking the signaling potential of GPI-anchored proteins through lipolytic cleavage | 8 |
| Boshart et al. (1985) | Cell 41:521-530 | A very strong enhancer is located upstream of an immediate early gene of human cytomegalovirus | 1167 |
| Bowles et al. (2012) | Mol Ther | Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector | 402 |
| Brand et al. (1993) | Development | Targeted gene expression as a means of altering cell fates and generating dominant phenotypes | 9968 |
| Brenner et al. (1994) | J Neurosci | GFAP promoter directs astrocyte-specific expression in transgenic mice | 500 |
| Brummelkamp et al. (2002) | Science | A system for stable expression of short interfering RNAs in mammalian cells | 4318 |
| 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 | 101 |
| Butt et al. (1984) | PNAS | Copper metallothionein of yeast, structure of the gene, and regulation of expression | 286 |
| Campa et al. (2019) | Nat Methods | Multiplexed genome engineering by Cas12a and CRISPR arrays encoded on single transcripts | 313 |
| Campbell et al. (2020) | PNAS | mGreenLantern: a bright monomeric fluorescent protein with rapid expression and cell filling properties for neuronal imaging | 193 |
| Campeau et al. (2009) | PLoS ONE | Campeau et al. 2009 | 1058 |
| Carroll et al. (2016) | Proc Natl Acad Sci USA | A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9 | 189 |
| Cearley et al. (2008) | Mol Ther | Expanded repertoire of AAV vector serotypes mediate unique patterns of transduction in mouse brain | 186 |
| Chalfie et al. (1994) | Science | Green fluorescent protein as a marker for gene expression | 6828 |
| Challis et al. (2019) | Nat Protoc | Systemic AAV vectors for widespread and targeted gene delivery in rodents | 453 |
| Chan et al. (2017) | Nat Neurosci | Engineered AAVs for efficient noninvasive gene delivery to the central nervous system | 1743 |
| Chapman et al. (1991) | Nucleic Acids Res. | Effect of intron A from human cytomegalovirus (Towne) immediate-early gene on heterologous expression in mammalian cells | 294 |
| Chavez et al. (2015) | Nat Methods | Highly efficient Cas9-mediated transcriptional programming | 1691 |
| Chen et al. (1990) | J Virol | Identification of a region of simian virus 40 large T antigen required for cell transformation | 92 |
| Chen et al. (2012) | Adv Drug Deliv Rev | Fusion protein linkers: property, design and functionality | 2179 |
| Chen et al. (2017) | Nature | Enhanced proofreading governs CRISPR–Cas9 targeting accuracy | 1250 |
| Chen et al. (2021) | Nat Commun | Programmable C:G to G:C genome editing with CRISPR-Cas9-directed base excision repair proteins | 200 |
| Chen et al. (2021) | Cell | Enhanced prime editing systems by manipulating cellular determinants of editing outcomes | 854 |
| Chiu et al. (1996) | Curr Biol | Engineered GFP as a vital reporter in plants | 1388 |
| Choi et al. (2014) | Mol Brain | Optimization of AAV expression cassettes to improve packaging capacity and transgene expression in neurons | 196 |
| Choudhury et al. (2016) | Mol Ther | Viral vectors for therapy of neurologic diseases | 194 |
| Clackson et al. (1998) | Proc Natl Acad Sci USA | Redesigning an FKBP–ligand interface to generate chemical dimerizers with novel specificity | 581 |
| Cong et al. (2013) | Science | Multiplex genome engineering using CRISPR/Cas systems | 16029 |
| Conti et al. (1996) | Structure | Crystal structure of firefly luciferase throws light on a superfamily of adenylate-forming enzymes | 638 |