Subject collection: Neurodegenerative Disorders
- Modeling neurodegeneration in Caenorhabditis elegans
Summary: While unsurpassed as an experimental system for fundamental biology, Caenorhabditis elegans remains undervalued for its translational potential. Here, we highlight significant outcomes from, and resources available for, C. elegans-based research into neurodegenerative disorders.
- Machine learning discriminates a movement disorder in a zebrafish model of Parkinson's disease
Summary: Using computational analyses to harness artificial intelligence, we have tested a genetic model of Parkinson's disease and reveal a distinct movement phenotype in adult zebrafish lacking Dj-1.
- CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.
- Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders
Summary: The APOE ε4 allele and female sex are among the strongest risk factors for late-onset Alzheimer's disease. We explore how the interplay between these factors affects risk for this and other age-related neurodegenerative diseases.
- Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV
Summary: We show that loss of the lysosomal channel TRPML1, responsible for mucolipidosis IV, leads to delayed maturation of oligodendrocytes in early postnatal development, resulting in brain hypomyelination.
- Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia
Summary: Sole expression of the mutant frataxin G127V protein is sufficient for viability of the first Friedreich's ataxia point mutation mouse model, but induces premature senescence in isolated cells.
- The transcription factor Nurr1 is upregulated in amyotrophic lateral sclerosis patients and SOD1-G93A mice
Summary: We hypothesize that the transcription factor Nurr1 is activated in the early phase of the neurodegenerative disease amylotrophic lateral sclerosis (ALS), probably as a neuroprotective endogenous mechanism. Nurr1 might represent a promising target for ALS therapy.
- Control of translation elongation in health and disease
Summary: In this Review, we outline the process of elongation and discuss the relative contributions of transfer RNAs, elongation factors and their modifiers to this process, and how their dysregulation contributes towards disease.
- Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
Summary: This study identifies genomic regions in a new Npc1 mutant mouse model containing potential modifier variants associated with changes in phenotypic severity and lifespan.
- Establishment and validation of an endoplasmic reticulum stress reporter to monitor zebrafish ATF6 activity in development and disease
Summary: In this study, we validate transgenic zebrafish generated to specifically report the activity of ATF6, representing a major branch of the endoplasmic reticulum stress pathway with functions in development and disease.