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

per Frazier, Ann E., Thorburn, David R., Compton, Alison G.
Publicat a J Biol Chem (2019)

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

per 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.
Publicat a Mol Cell Proteomics (2020)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

per 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
Publicat a Genes (Basel) (2021)

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

per 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.
Publicat 2008

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

per 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.
Publicat a Hum Mutat (2019)

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

per 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
Publicat 2011

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

per 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
Publicat a Hum Mutat (2020)

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

per 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.
Publicat 2012

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

per 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.
Publicat 2013

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

per 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.
Publicat 2011

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

per 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.
Publicat 2014

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

per 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
Publicat a J Clin Med (2019)

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

per 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
Publicat 2010

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

per 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.
Publicat 2013

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

per 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.
Publicat a Am J Hum Genet (2016)

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

per 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.
Publicat a Am J Hum Genet (2017)

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

per 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.
Publicat a Am J Hum Genet (2018)

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

per 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
Publicat a Ann Clin Transl Neurol (2019)

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

per 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.
Publicat 2014

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

per 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
Publicat a Brain (2017)