The Mitochondrial Proteome and Human Disease

Por Calvo, Sarah E., Mootha, Vamsi K.
Publicado no Annu Rev Genomics Hum Genet (2010)

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Por Calvo, Sarah E., Pagliarini, David J., Mootha, Vamsi K.
Publicado em 2009

Evolutionary Diversity of the Mitochondrial Calcium Uniporter

Por Bick, Alexander G., Calvo, Sarah E., Mootha, Vamsi K.
Publicado em 2012

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

Por Calvo, Sarah E., Clauser, Karl R., Mootha, Vamsi K.
Publicado no Nucleic Acids Res (2016)

Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism

Por Goodman, Russell P., Calvo, Sarah E., Mootha, Vamsi K.
Publicado no J Biol Chem (2018)

Expansion of biological pathways based on evolutionary inference

Por Li, Yang, Calvo, Sarah E., Gutman, Roee, Liu, Jun S., Mootha, Vamsi K.
Publicado em 2014

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

Por Li, Yang, Jourdain, Alexis A., Calvo, Sarah E., Liu, Jun S., Mootha, Vamsi K.
Publicado no PLoS Comput Biol (2017)

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity

Por Strittmatter, Laura, Li, Yang, Nakatsuka, Nathan J., Calvo, Sarah E., Grabarek, Zenon, Mootha, Vamsi K.
Publicado em 2014

Genetic screen for cell fitness in high or low oxygen highlights mitochondrial and lipid metabolism

Por Jain, Isha H., Calvo, Sarah E., Markhard, Andrew L., Skinner, Owen S., To, Tsz-Leung, Ast, Tslil, Mootha, Vamsi K.
Publicado no Cell (2020)

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast

Por Calvo, Sarah E., Julien, Olivier, Clauser, Karl R., Shen, Hongying, Kamer, Kimberli J., Wells, James A., Mootha, Vamsi K.
Publicado no Mol Cell Proteomics (2017)

Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9

Por Garone, Caterina, Donati, Maria Alice, Sacchini, Michele, Garcia-Diaz, Beatriz, Bruno, Claudio, Calvo, Sarah, Mootha, Vamsi K., DiMauro, Salvatore
Publicado em 2013

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

Por Garone, Caterina, Rubio, Juan Carlos, Calvo, Sarah E., Naini, Ali, Tanji, Kurenai, DiMauro, Salvatore, Mootha, Vamsi K., Hirano, Michio
Publicado em 2012

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Por Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
Publicado em 2014

A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation

Por Arroyo, Jason D., Jourdain, Alexis A., Calvo, Sarah E., Ballarano, Carmine A., Doench, John G., Root, David E., Mootha, Vamsi K.
Publicado no Cell Metab (2016)

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Por Lieber, Daniel S, Vafai, Scott B, Horton, Laura C, Slate, Nancy G, Liu, Shangtao, Borowsky, Mark L, Calvo, Sarah E, Schmahmann, Jeremy D, Mootha, Vamsi K
Publicado em 2012

Mutation in the Novel Nuclear-Encoded Mitochondrial Protein CHCHD10 in a Family with Autosomal Dominant Mitochondrial Myopathy

Por Ajroud-Driss, Senda, Fecto, Faisal, Ajroud, Kaouther, Lalani, Irfan, Calvo, Sarah E., Mootha, Vamsi K., Deng, Han-Xiang, Siddique, Nailah, Tahmoush, Albert J., Heiman-Patterson, Terry D., Siddique, Teepu
Publicado no Neurogenetics (2014)

Comparative RNA Editing in Autistic and Neurotypical Cerebella

Por Eran, Alal, Li, Jin Billy, Vatalaro, Kayla, McCarthy, Jillian, Rahimov, Fedik, Collins, Christin, Markianos, Kyriacos, Margulies, David M., Brown, Emery N., Calvo, Sarah E., Kohane, Isaac S., Kunkel, Louis M.
Publicado em 2012

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
Publicado no Hum Mol Genet (2015)

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
Publicado no Hum Mol Genet (2010)

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Por Lake, Nicole J., Formosa, Luke E., Stroud, David A., Ryan, Michael T., Calvo, Sarah E., Mootha, Vamsi K., Morar, Bharti, Procopis, Peter G, Christodoulou, John, Compton, Alison G., Thorburn, David R.
Publicado no Hum Mutat (2019)