Sheng‐Jia Lin

XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

TadA-Derived Cytosine Base Editor for Precise Genome Editing in Zebrafish

The paper introduces zTadCBE, a TadA-derived cytosine base editor for precise genome editing in zebrafish, showing high efficiency, reduced off-target effects, and expanded targeting range.

Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish

This study shows that zebrafish Naa80 acetylates actins and is essential for normal hearing, but not for muscle development or viability.

Cnr2 is important for Ribbon Synapse Maturation and Function in Hair Cells and Photoreceptors

This study shows that cnr2 is critical for ribbon synapse maturation and function in hair cells and photoreceptors, affecting synaptic structure and behavior in zebrafish larvae.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.