Shuying Sun

SWELL1 channel-mediated D-2HG export promotes immune evasion and metabolic fitness in IDH-mutant gliomas

This study identifies SWELL1-mediated D-2HG export as a mechanism for immune evasion and metabolic fitness in IDH-mutant gliomas, showing that inhibiting this pathway can suppress tumor growth and enhance immune response.

Loss of TDP-43 function drives cryptic circular RNAs in neurodegenerative diseases

This study shows that loss of TDP-43 function leads to increased cryptic circular RNAs in neurodegenerative diseases.

Epigenetic control of microglial mitochondrial immunity by KAT7 drives Alzheimer's disease pathogenesis

This study identifies KAT7 as an epigenetic regulator that drives microglial mitochondrial immunity and Alzheimer's disease pathogenesis by enhancing mtDNA-driven inflammation and amyloid-β burden.

LINE1 RNA dysregulation impairs chromatin accessibility in C9ORF72- and TDP-43-linked ALS/FTD

This study shows that LINE1 RNA dysregulation impairs chromatin accessibility in ALS/FTD, leading to transcriptional changes and neuronal dysfunction.

Inhibition of nonsense-mediated decay in TDP-43 deficient neurons reveals novel cryptic exons

The paper identifies novel cryptic exons in TDP-43 deficient neurons by inhibiting nonsense-mediated decay, revealing potential therapeutic targets for ALS-FTD.

Phagosome-mediated anti-bacterial immunity is governed by the proton-activated chloride channel in peritoneal macrophages

This study identifies the proton-activated chloride channel as a regulator of phagosome maturation and bacterial killing in peritoneal macrophages, showing its role in immune responses.

DCPS modulates TDP-43 mediated neurodegeneration through P-body regulation

This study identifies DCPS as a genetic modifier of TDP-43 loss-of-function neurotoxicity by restoring P-body integrity and RNA turnover in human neurons.

5-ethynyluridine perturbs nuclear RNA metabolism to promote the nuclear accumulation of TDP-43 and other RNA binding proteins

This study shows that 5-ethynyluridine (5EU) causes nuclear accumulation of TDP-43 and other RNA-binding proteins by altering RNA metabolism and splicing.

Endosomal hyper-acidification via proton-activated chloride channel deletion in neurons impairs AMPA receptor endocytosis and LTD

This study shows that deletion of the proton-activated chloride channel in neurons leads to endosomal hyper-acidification, impairing AMPA receptor endocytosis and long-term depression.

Depletion of TDP-43 exacerbates tauopathy-dependent brain atrophy by sensitizing vulnerable neurons to caspase 3-mediated endoproteolysis of tau in a mouse model of Multiple Etiology Dementia

This paper shows that TDP-43 loss-of-function worsens tauopathy in a mouse model by increasing caspase 3-mediated tau cleavage in vulnerable neurons, leading to greater brain atrophy.

Elevated nuclear TDP-43 induces constitutive exon skipping

This study shows that elevated nuclear TDP-43 causes species-specific exon skipping, which differs from exon skipping seen in TDP-43 loss-of-function, highlighting the need for careful interpretation of TDP-43 overexpression models.

KAT6A deficiency impairs cognitive functions through suppressing RSPO2/Wnt signaling in hippocampal CA3

This study identifies KAT6A's role in regulating synaptic plasticity and memory through RSPO2/Wnt signaling in hippocampal CA3, linking KAT6A deficiency to cognitive impairments.

Cell-specific regulation of gene expression using splicing-dependent frameshifting.

This paper introduces SLED, a splicing-based method to control gene expression in specific cell types, demonstrating its utility in targeting neurons, photoreceptors, and cancer cells.