Liangguang Leo Lin

This study identifies a molecular switch in NAC that prevents mitochondrial protein mistargeting by SRP, showing that mutations disrupt this mechanism and cause ER stress.

This study identifies SEL1L-HRD1 ERAD as a regulator of PC2 maturation and glucagon production in islet α cells by degrading misfolded proPC2.

The paper reports the cryo-EM structure of the mammalian SEL1L-HRD1 ERAD core complex, revealing its dimeric organization and how pathogenic mutations disrupt its function and contribute to disease.

This paper shows that the SEL1L-HRD1 complex is essential for ERAD function and neonatal survival in mice, with specific mutations causing lethal defects.

This study shows that neuronal SEL1L-HRD1 ERAD is critical for one-carbon metabolism, motor function, and survival, with loss leading to severe neurological defects.

This study reports the discovery of using antisense oligonucleotides (ASOs) to rescue the biallelic SEL1L C141Y variant, offering a potential therapeutic strategy.

This study shows that SEL1L-HRD1 ERAD is essential for Purkinje cell function and causes progressive cerebellar ataxia in mice.