Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, and Genetic Neurodegenerative Diseases.
Sporadic ALS induced pluripotent stem cell derived neurons reveal hallmarks of TDP-43 loss of function
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines
Nuclear pore complexes — a doorway to neural injury in neurodegeneration
Identifying patterns in amyotrophic lateral sclerosis progression from sparse longitudinal data
Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients
The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei
Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD
G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD
CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation
Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer’s Disease
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport
Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimerrs Disease
Post-transcriptional Inhibition of Hsc70-4/HSPA8 Expression Leads to Synaptic Vesicle Cycling Defects in Multiple Models of ALS
Endocytosis regulates TDP-43 toxicity and turnover
Failure to Deliver and Translate—New Insights into RNA Dysregulation in ALS
Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation
Futsch/MAP1B mRNA Is a Translational Target of TDP-43 and Is Neuroprotective in a<i>Drosophila</i>Model of Amyotrophic Lateral Sclerosis