Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, RNA and protein synthesis mechanisms, and RNA Research and Splicing.
Human FUS is toxic via association with RNA polymerase II in Drosophila
TDP-43 seeding induces cytoplasmic aggregation heterogeneity and nuclear loss of function of TDP-43
Glycerophospholipids in ALS: insights into disease mechanisms and clinical implication
C9orf72 hexanucleotide repeat expansions impair microglial response in ALS
Altered Lipid Homeostasis in Mutant FUSR521H Astrocytes from HiPSCs
Phosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A
The sense of antisense therapies in ALS
FUS unveiled in mitochondrial DNA repair and targeted ligase-1 expression rescues repair-defects in FUS-linked motor neuron disease
<i>PMP22</i> duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
<i>C21ORF2</i> mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis
A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore
PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport
A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome
Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response
Clioquinol improves catalytic activity of PHGDH and shows antiseizure efficacy in patients
Hallmarks of neurodegenerative diseases
TDP-43 pathology is associated with increased tau burdens and seeding
FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms
A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit
Single‐cell profiling and zebrafish avatars reveal LGALS1 as immunomodulating target in glioblastoma
Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS
Why should we care about astrocytes in a motor neuron disease?
Abnormal energy metabolism in ALS: a key player?
Author response: Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS
Current Methods In ALS Research
Author Reply to Peer Reviews of Single-cell profiling and zebrafish avatars reveal LGALS1 as immunomodulating target in glioblastoma
FUS Unveiled in Mitochondrial DNA Repair and Targeted Ligase-1 Expression Rescues Repair-Defects in FUS-Linked Neurodegeneration
Astrocyte-targeted gene delivery of interleukin 2 specifically increases brain-resident regulatory T cell numbers and protects against pathological neuroinflammation