Alvin Yu Jin Ng

A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes

This study identifies a dominant CIDEC variant causing familial obesity by increasing lipid droplet size in adipocytes through structural and functional changes.

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

The paper describes the RYR1 variant landscape in a Singapore cohort using whole genome sequencing, identifying pathogenic variants and their allele frequencies across ethnic groups.

Ermin deficiency as an inside-out model of inflammatory dysmyelination

This study shows that Ermin deficiency causes myelin abnormalities and inflammation, leading to neurological deficits and increased susceptibility to demyelination, suggesting it as an 'inside-out' model for inflammatory dysmyelination.