On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models

por Walker, Melissa A., Miranda, Maria, Allred, Amanda, Mootha, Vamsi K.
Publicado 2022

Powering the Immune System: Mitochondria in Immune Function and Deficiency

por Walker, Melissa A., Volpi, Stefano, Sims, Katherine B., Walter, Jolan E., Traggiai, Elisabetta
Publicado 2014

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

por Jangam, Sharayu, Briere, Lauren C., Jay, Kristy, Andrews, Jonathan C, Walker, Melissa A., Rodan, Lance H., High, Frances A., Yamamoto, Shinya, Sweetser, David A., Wangler, Michael
Publicado 2023

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen...

por Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Publicado 2020

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

por Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
Publicado 2021

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations

por Rath, Sneha, Sharma, Rohit, Gupta, Rahul, Ast, Tslil, Chan, Connie, Durham, Timothy J, Goodman, Russell P, Grabarek, Zenon, Haas, Mary E, Hung, Wendy H W, Joshi, Pallavi R, Jourdain, Alexis A, Kim, Sharon H, Kotrys, Anna V, Lam, Stephanie S, McCoy, Jason G, Meisel, Joshua D, Miranda, Maria, Panda, Apekshya, Patgiri, Anupam, Rogers, Robert, Sadre, Shayan, Shah, Hardik, Skinner, Owen S, To, Tsz-Leung, Walker, Melissa A, Wang, Hong, Ward, Patrick S, Wengrod, Jordan, Yuan, Chen-Ching, Calvo, Sarah E, Mootha, Vamsi K
Publicado 2020