Subject collection: Rare diseases
- 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.
- Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
Summary: The characterization of a novel Drosophila model of NDUFS4 mitochondrial disease revealed a pronounced defect in feeding abilities and recapitulated additional human disease features.
- Lymphoblastoid cell lines as a model to understand amyotrophic lateral sclerosis disease mechanisms
Summary: The identification of a patient-specific and non-invasive model is crucial in ALS research. Here, the authors present a reliable characterization of lymphoblastoid cell lines from both sporadic and mutated ALS patients.
- Mecp2 regulates tnfa during zebrafish embryonic development and acute inflammation
Summary: As shown by evaluating the levels of pro- and anti-inflammatory cytokines in mecp2-null zebrafish, Mecp2 is required for tnfa expression during zebrafish development and inflammation.
- Rescue of ATXN3 neuronal toxicity in Caenorhabditis elegans by chemical modification of endoplasmic reticulum stress
Summary: We introduce a novel C. elegans model for Machado–Joseph disease for use in preclinical drug discovery and identified guanabenz as a potent neuroprotective molecule.
- Noncanonical NF-κB signaling and the essential kinase NIK modulate crucial features associated with eosinophilic esophagitis pathogenesis
Summary: Analyses of Nik–/– mice and human gene expression data reveal a new pathway involved in the development of eosinophilic esophagitis in human patients and mouse models of the disease. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.
- Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia
Summary: Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit might be potential mediators of cerebellar dysfunction and ataxia in the KIKO mouse model of Friedreich ataxia.