A founder mutation in EHD1 presents with tubular proteinuria and deafness (2022)
Journal Article
Russell, C., Issler, N., Afonso, S., Ziegler, C., Weissman, . I., Dumitriu, S., …Schilling, A. (in press). A founder mutation in EHD1 presents with tubular proteinuria and deafness. Journal of the American Society of Nephrology,

Background: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely unders... Read More about A founder mutation in EHD1 presents with tubular proteinuria and deafness.

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease (2021)
Journal Article
Russell, C., Minnis, C. J., Townsend, S., Petschnigg, J., Tinelli, E., Bähler, J., …Mole, S. E. (2021). Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports,

Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3. Here, we have extended th... Read More about Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.

New zebrafish models of neurodegeneration
Journal Article
Martin-Jimenez, R., Campanella, M., & Russell, C. (in press). New zebrafish models of neurodegeneration. Current Neurology and Neuroscience Reports, 15(6), 555-555. https://doi.org/10.1007/s11910-015-0555-z