Clement Y. Chow

A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG

This paper identifies dopamine signaling and cyclooxygenase pathways as potential therapeutic targets for PIGA-CDG through drug repurposing in a Drosophila model.

The stress-induced transcription factor ATF4 has multiple conserved retrocopies that can alter gene expression

This study identifies and characterizes conserved ATF4 retrocopies in primates that are functionally active and influence ISR signaling.

Natural SEL1L variants modify ERAD, proteasome function, and survival in a Drosophila model of NGLY1 deficiency

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG

A drug repurposing screen in a Drosophila model of DPAGT1-CDG identified dopamine D2 receptor inhibition as a potential therapeutic strategy.

Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers

The paper identifies potential genetic modifiers of Congenital Disorders of Glycosylation (CDG) using evolutionary rate covariation analysis across glycosylation pathways and other biological processes.

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

A Drosophila screen identifies a role for histone methylation in ER stress preconditioning

The paper identifies histone methylation, particularly via the Set1/COMPASS complex, as a key modifier of ER stress preconditioning in Drosophila.

Drosophila models of PIGA-CDG mirror patient phenotypes

This paper develops a Drosophila model of PIGA-CDG that recapitulates patient phenotypes, including seizures and movement disorders, and identifies cell-type-specific molecular changes.

A genome-wide CRISPR screen identifies the glycosylation enzyme DPM1 as a modifier of DPAGT1 deficiency and ER stress

The paper identifies DPM1 as a therapeutic target for DPAGT1-CDG by showing its inhibition rescues ER stress and glycoprotein levels in Drosophila models.

The dynamic effect of regulatory genetic variation on the in vivo ER stress transcriptional response

This study investigates how genetic variation affects the ER stress transcriptional response in different tissues and genotypes, finding tissue- and genotype-specific regulatory mechanisms.

A Drosophila natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency

The Drosophila metallopeptidase superdeath decouples apoptosis from the activation of the ER stress response

This study identifies superdeath, a Drosophila metallopeptidase, as a modifier of ER stress-induced apoptosis by acting upstream of CDK5 in the JNK pathway, without affecting the unfolded protein response.

Natural genetic variation screen in Drosophila identifies Wnt signaling, mitochondrial metabolism, and redox homeostasis genes as modifiers of apoptosis

Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response

This study identifies Baldspot/ELOVL6 as a modifier of the ER stress response and disease, showing its role in reducing cell death and degeneration in a Drosophila model.

Genetic Modifiers of Pathogenic LRRK2 G2019S Neurodegeneration in Drosophila

The paper identifies genetic modifiers of LRRK2 G2019S-induced neurodegeneration in Drosophila using the DGRP, revealing 177 candidate genes and four significant modifiers affecting locomotor dysfunction.