The Human Synaptic Vesicle Protein, SV2A, Functions as a Galactose Transporter in Saccharomyces cerevisiae

Por Madeo, Marianna, Kovács, Attila D., Pearce, David A.
Publicado no J Biol Chem (2014)

Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration

Por Simpkins, Jessica A., Rickel, Kirby E., Madeo, Marianna, Ahlers, Bethany A., Carlisle, Gabriel B., Nelson, Heidi J., Cardillo, Andrew L., Weber, Emily A., Vitiello, Peter F., Pearce, David A., Vitiello, Seasson P.
Publicado no Biol Open (2016)

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Por Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Publicado no Hum Mol Genet (2015)

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado no Neurol Genet (2016)

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Por Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Publicado no Am J Hum Genet (2016)