Subject collection: Neurodegenerative Disorders
- 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.
- Misfolded α-synuclein causes hyperactive respiration without functional deficit in live neuroblastoma cells
Summary: Misfolded α-synuclein produced using the protein misfolding cyclic amplification assay associates with cardiolipin and causes hyperactive respiration in neuronal cells.
- Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
Summary: Longitudinal phenotyping of the minipig model for Huntington's disease demonstrates a slow and age-dependent neurodegeneration.
- Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
Summary: The transgenic minipig model of Huntington's disease demonstrates a slow-progressing motor, cognitive and behavioral phenotype with later onset in adulthood.