A5012553657- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Prion Diseases and Protein Misfolding
- RNA Interference and Gene Delivery
- Genetic Neurodegenerative Diseases
- Fungal and yeast genetics research
- Histone Deacetylase Inhibitors Research
- Metal complexes synthesis and properties
Italian Institute of Technology
2023-2024
UK Dementia Research Institute
2022
King's College London
2022
University of Pavia
2019-2022
Abstract TDP-43 is an aggregation-prone protein which accumulates in the hallmark pathological inclusions of amyotrophic lateral sclerosis (ALS). However, analysis deeply phenotyped human post-mortem samples has shown that aggregation, revealed by standard antibody methods, correlates poorly with symptom manifestation. Recent identification cryptic-splicing events, such as detection Stathmin-2 ( STMN-2 ) cryptic exons, are providing evidence implicating loss-of-function a potential driving...
Abstract Background Cognitive and behavioural symptoms associated with amyotrophic lateral sclerosis frontotemporal spectrum disorders (ALSFTSD) are thought to be driven, at least in part, by the pathological accumulation of TDP-43. Methods Here we examine post-mortem tissue from six brain regions cognitive a cohort 30 people sporadic ALS (sALS), proportion which underwent standardized neuropsychological assessment as part Edinburgh Screen (ECAS). Results Overall, screen performed ECAS...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated to deteriorating motor and cognitive functions, short survival. The disease caused by neuronal death which results in progressive muscle wasting weakness, ultimately leading lethal respiratory failure. misbehaviour of specific protein, TDP-43, aggregates becomes toxic ALS patient's neurons, supposed be one the causes. TDP-43 DNA/RNA-binding protein involved several functions related nucleic acid metabolism....
Abstract TDP-43 is an aggregation-prone protein which accumulates in the hallmark pathological inclusions of amyotrophic lateral sclerosis (ALS). However, analysis deeply-phenotyped human post-mortem samples has shown that aggregation, revealed by standard antibody methods, correlates poorly with symptom manifestation. Recent identification cryptic-splicing events, such as detection Stathmin-2 ( STMN-2 ) cryptic exons, are providing evidence implicating loss-of-function a potential driving...