Natalia Gomez‐Ospina

This study identifies CLN6 as a glycerophosphoglycerol epimerase that converts R,S-GPG to S,S-GPG, establishing the S,S-BMP stereochemistry critical for lysosomal function.

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

The paper creates a cell-type-specific lysosome protein atlas in the brain, identifies SLC45A1 as a neuron-specific lysosomal protein, and shows its role in lysosomal function and neurodegeneration.

This study uses CRISPR/Cas9 to edit hematopoietic stem cells to express iduronidase, correcting Mucopolysaccharidosis type I in mice.

The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.