Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Por Frazier, Ann E., Thorburn, David R., Compton, Alison G.
Publicado no J Biol Chem (2019)

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV

Por Hock, Daniella H., Reljic, Boris, Ang, Ching-Seng, Muellner-Wong, Linden, Mountford, Hayley S., Compton, Alison G., Ryan, Michael T., Thorburn, David R., Stroud, David A.
Publicado no Mol Cell Proteomics (2020)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Por Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Publicado no Genes (Basel) (2021)

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Por Compton, Alison G., Albrecht, Douglas E., Seto, Jane T., Cooper, Sandra T., Ilkovski, Biljana, Jones, Kristi J., Challis, Daniel, Mowat, David, Ranscht, Barbara, Bahlo, Melanie, Froehner, Stanley C., North, Kathryn N.
Publicado em 2008

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)

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Por Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R
Publicado em 2011

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Por Helman, Guy, Compton, Alison G., Hock, Daniella H., Walkiewicz, Marzena, Brett, Gemma R., Pais, Lynn, Tan, Tiong Y., De Paoli-Iseppi, Ricardo, Clark, Michael B., Christodoulou, John, White, Susan M., Thorburn, David R., Stroud, David A., Stark, Zornitza, Simons, Cas
Publicado no Hum Mutat (2020)

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Por Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.
Publicado em 2012

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Por Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Publicado em 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Por Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.
Publicado em 2011

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Por Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.
Publicado em 2014

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Por Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John
Publicado no J Clin Med (2019)

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Por Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel A, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
Publicado em 2010

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Por Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.
Publicado em 2013

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Por Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Publicado no Am J Hum Genet (2016)

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Por Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Bodaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.
Publicado no Am J Hum Genet (2017)

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Por Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Boddaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.
Publicado no Am J Hum Genet (2018)

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Por Hayhurst, Hannah, de Coo, Irenaeus F. M., Piekutowska‐Abramczuk, Dorota, Alston, Charlotte L., Sharma, Sunil, Thompson, Kyle, Rius, Rocio, He, Langping, Hopton, Sila, Ploski, Rafal, Ciara, Elzbieta, Lake, Nicole J., Compton, Alison G., Delatycki, Martin B., Verrips, Aad, Bonnen, Penelope E., Jones, Simon A., Morris, Andrew A., Shakespeare, David, Christodoulou, John, Wesol‐Kucharska, Dorota, Rokicki, Dariusz, Smeets, Hubert J. M., Pronicka, Ewa, Thorburn, David R., Gorman, Grainne S., McFarland, Robert, Taylor, Robert W., Ng, Yi Shiau
Publicado no Ann Clin Transl Neurol (2019)

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Por Baker, Peter R., Friederich, Marisa W., Swanson, Michael A., Shaikh, Tamim, Bhattacharya, Kaustuv, Scharer, Gunter H., Aicher, Joseph, Creadon-Swindell, Geralyn, Geiger, Elizabeth, MacLean, Kenneth N., Lee, Wang-Tso, Deshpande, Charu, Freckmann, Mary-Louise, Shih, Ling-Yu, Wasserstein, Melissa, Rasmussen, Malene B., Lund, Allan M., Procopis, Peter, Cameron, Jessie M., Robinson, Brian H., Brown, Garry K., Brown, Ruth M., Compton, Alison G., Dieckmann, Carol L., Collard, Renata, Coughlin, Curtis R., Spector, Elaine, Wempe, Michael F., Van Hove, Johan L.K.
Publicado em 2014

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Por Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella
Publicado no Brain (2017)