Subject collection: Rare diseases
- CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
Summary: NGS-based analysis reveals that CRISPR/Cas9-induced double-strand-break repair using single-stranded repair templates is error prone in zebrafish, resulting in complex patterns of integrated repair-template fragments.
- Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
Summary: By using a single-stranded DNA oligonucleotide template in combination with CRISPR/Cas9 in zebrafish, the authors achieved effective germline-transmissible introduction of patient-specific single-nucleotide changes related to cardiovascular disease.
- ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy
Summary: ENPP1 enzyme replacement therapy can have important implications for generalized arterial calcification of infancy by treating both vascular calcification and hypertension, which are the leading causes of cardiac failure and mortality in patients.
- Cancer modeling by Transgene Electroporation in Adult Zebrafish (TEAZ)
Summary: Here, we developed Transgene Electroporation in Adult Zebrafish (TEAZ), a method that enables researchers to study cancer and metastasis by introducing DNA elements focally into somatic adult tissue.
- Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia
Summary: Soluble endoglin regulates vascular development and arteriovenous malformations by modulating angiogenesis, and its effect on endothelial cells depends on expression of endogenous membrane-bound endoglin.
- A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation
Summary: This study reveals a mechanism that links export of mitochondrial citrate to accumulation of the oncometabolite L-2-hydroxyglutarate, suggesting a potential treatment for individuals with combined D-2- and L-2-hydroxyglutaric aciduria, a rare inborn error of metabolism.
- Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2
Summary: Here, we report that in the well-established mouse model of episodic ataxia type 2, tottering, the severe episodic motor signs are caused by highly erratic activity of Purkinje cells.
- Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage
Summary: Here, we established a light-damage paradigm to model retinal degeneration in the juvenile neuronal ceroid lipofuscinosis mouse and showed the beneficial effects of minocycline on retinal pathology.
- Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds
Summary: A zebrafish genetic model of Niemann-Pick disease type C1 is suitable for performing in vivo screening of candidate therapeutic compounds by examining LysoTracker staining intensity in neuromasts.
- Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia
Summary: The elongator subunit IKBKAP/ELP1 is not required for development, but is essential for maintaining mitochondrial function and retina morphology. Loss of this subunit causes progressive, selective degeneration of retinal ganglion cells.