Subject collection: Rare diseases
- 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.
- Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila
Summary: Using a Drosophila model of adrenoleukodystrophy, the authors provide evidence against the current view that an accumulation of lipid metabolic pathway precursors is causative of this neurometabolic disease. Rather, a lack of pathway product is the causative factor and addition of medium-chain fatty acids to the diet prevented the onset of neurodegeneration.
- A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR/Cas9
Summary: The DMD KO rabbit engineered by CRISPR genome editing faithfully recapitulates the DMD pathologies, and could be a valuable tool for basic and translational studies to combat this disease.
- Sporadic amyotrophic lateral sclerosis (SALS) – skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model
Editor's choice: In amyotrophic lateral sclerosis, a motor neurodegenerative disease, the pathological changes of the skeletal muscle can significantly damage motor neurons, leading to progressive neurodegeneration.