Emily R. Eden

HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C

This study establishes isogenic NPC1 and NPC2 models to reveal that HKDC1 regulates mitochondrial-lysosome contact in NPC1-deficient cells.

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy

This study develops an allele-specific antisense oligonucleotide to target EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy, reducing extracellular deposits and intracellular lipid accumulation.

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.

Alternative Splicing Directs PMCA2 to Lysosomes and is Linked to Neurodegeneration

The paper identifies a splice variant-dependent localization of PMCA2 to lysosomes and links it to neurodegenerative diseases.

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.

N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cells.

The paper shows NALL rescues inter-organelle communication and restores lysosomal and mitochondrial function in NPC patient cells.