Area of research
Physiology · Neurology
Research interest
Research interests include Alzheimer's disease research and treatments, Amyotrophic Lateral Sclerosis Research, RNA Research and Splicing, and Genetic Neurodegenerative Diseases.
A perturbed network in neurodegeneration.
Cytoplasmic TDP-43 is involved in cell fate during stress recovery
Cytoplasmic TDP-43 is involved in cell fate during stress recovery.
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration
Modulation of Tau Isoforms Imbalance Precludes Tau Pathology and Cognitive Decline in a Mouse Model of Tauopathy
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity
RNA Misprocessing in C9orf72-Linked Neurodegeneration
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
Tau Isoforms Imbalance Impairs the Axonal Transport of the Amyloid Precursor Protein in Human Neurons
Tau mis-splicing in the pathogenesis of neurodegenerative disorders
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration
Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease
Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing
Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia
Tau alternative splicing in familial and sporadic tauopathies