Subject collection: Neurodegenerative Disorders
- 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.
- Quantitative whole-brain 3D imaging of tyrosine hydroxylase-labeled neuron architecture in the mouse MPTP model of Parkinson's disease
Summary: Whole-brain immunolabeling, mapping and absolute quantification of tyrosine hydroxylase neurons in the adult mouse brain provides a useful tool for studying changes in dopaminergic signaling in a mouse model of PD.
- Insoluble Aβ overexpression in an App knock-in mouse model alters microstructure and gamma oscillations in the prefrontal cortex, affecting anxiety-related behaviours
Summary: Aβ overexpression in a second-generation Alzheimer's disease model results in alterations in anxiety-type behaviours, as well as gamma oscillations, neural organisation and Grin2b expression in the prefrontal cortex.
- C9ORF72-related cellular pathology in skeletal myocytes derived from ALS-patient induced pluripotent stem cells
Summary: Evidence of protein aggregation and mitochondrial dysfunction were found in skeletal myocytes differentiated from ALS-patient induced pluripotent stem cells with the C9ORF72 mutation.