Thomas Burgoyne

HRS dephosphorylation at membrane contact sites promotes sorting within multivesicular endosomes

The paper shows that HRS dephosphorylation at ER:MVE contacts promotes efficient ILV formation during MVE sorting.

Identification of ER:melanosome membrane contact sites in the retinal pigment epithelium.

The paper identifies ER:melanosome membrane contact sites in RPE and shows reduced ER contact with mature melanosomes, suggesting ER involvement in melanosome biogenesis and mitochondrial interaction.

Dietary glutamine supplementation alleviates age-related cardiac dysfunction by reducing elevated H3K27me3

This study shows that dietary glutamine reduces H3K27me3 levels in aged mice, improving cardiac function by enhancing autophagy and metabolic health.

HYDIN variants cause primary ciliary dyskinesia in the Finnish population

This study identifies HYDIN variants as a cause of primary ciliary dyskinesia in the Finnish population, showing their clinical and functional impact.

Loss of REP1 impacts choroidal melanogenesis in choroideremia

This study shows that loss of REP1 in CHM animal models and patients causes choroidal melanogenesis defects, including reduced melanin and melanosomes, and suggests potential therapeutic strategies.

Glucose-dependent miR-125b is a negative regulator of β-cell function

This study identifies miR-125b-5p as a glucose-regulated miRNA that negatively regulates β-cell function by modulating organelle dynamics and insulin secretion.

AMP-activated protein kinase is a key regulator of retinal vascular permeability

This study identifies AMPK as a key regulator of retinal vascular permeability by linking Ca2+ signals to eNOS and p38 activation, using an ex-vivo retina model.