Works by Antonicka, Hana

Results: 24

A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.

Published in:

EMBO Reports, 2017, v. 18, n. 1, p. 28, doi. 10.15252/embr.201643391

By:

Antonicka, Hana;
Choquet, Karine;
Lin, Zhen‐Yuan;
Gingras, Anne‐Claude;
Kleinman, Claudia L;
Shoubridge, Eric A

Publication type:

Article

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Published in:

2006

By:

Lerner-Ellis, Jordan P.;
Tirone, Jamie C.;
Pawelek, Peter D.;
Doré, Carole;
Atkinson, Janet L.;
Watkins, David;
Morel, Chantal F.;
Fujiwara, T. Mary;
Moras, Emily;
Hosack, Angela R.;
Dunbar, Gail V.;
Antonicka, Hana;
Forgetta, Vince;
Dobson, C. Melissa;
Leclerc, Daniel;
Gravel, Roy A.;
Shoubridge, Eric A.;
Coulton, James W.;
Lepage, Pierre;
Rommens, Johanna M.

Publication type:

Correction Notice

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Published in:

Nature Genetics, 2006, v. 38, n. 1, p. 93, doi. 10.1038/ng1683

By:

Lerner-Ellis, Jordan P;
Tirone, Jamie C;
Pawelek, Peter D;
Doré, Carole;
Atkinson, Janet L;
Watkins, David;
Morel, Chantal F;
Fujiwara, T Mary;
Moras, Emily;
Hosack, Angela R;
Dunbar, Gail V;
Antonicka, Hana;
Forgetta, Vince;
Dobson, C Melissa;
Leclerc, Daniel;
Gravel, Roy A;
Shoubridge, Eric A;
Coulton, James W;
Lepage, Pierre;
Rommens, Johanna M

Publication type:

Article

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y

By:

Tetreault, Martine;
Fahiminiya, Somayyeh;
Antonicka, Hana;
Mitchell, Grant;
Geraghty, Michael;
Lines, Matthew;
Boycott, Kym;
Shoubridge, Eric;
Mitchell, John;
Michaud, Jacques;
Majewski, Jacek

Publication type:

Article

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

Published in:

Molecular & Cellular Biology, 2016, v. 36, n. 16, p. 2132, doi. 10.1128/MCB.00066-16

By:

Rendón, Olga Zurita;
Antonicka, Hana;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1366, doi. 10.1002/humu.22385

By:

Leary, Scot C.;
Antonicka, Hana;
Sasarman, Florin;
Weraarpachai, Woranontee;
Cobine, Paul A.;
Pan, Min;
Brown, Garry K.;
Brown, Ruth;
Majewski, Jacek;
Ha, Kevin C. H.;
Rahman, Shamima;
Shoubridge, Eric A.

Publication type:

Article

Stomatin-like protein 2 deficiency results in impaired mitochondrial translation.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179967

By:

Mitsopoulos, Panagiotis;
Lapohos, Orsolya;
Weraarpachai, Woranontee;
Antonicka, Hana;
Chang, Yu-Han;
Madrenas, Joaquín

Publication type:

Article

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 6, p. 552, doi. 10.1002/(SICI)1097-0223(199906)19:6<552::AID-PD588>3.0.CO;2-C

By:

Houštěk, Josef;
Klement, Petr;
Heřmanská, Jana;
Antonická, Hana;
Houšťková, Hana;
Stratilová, Leona;
Wanders, Ronald J. A.;
Zeman, Jiří

Publication type:

Article

ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.

Published in:

Life Science Alliance, 2024, v. 7, n. 1, p. 1, doi. 10.26508/lsa.202302335

By:

Janer, Alexandre;
Morris, Jordan L.;
Krols, Michiel;
Antonicka, Hana;
Aaltonen, Mari J.;
Zhen-Yuan Lin;
Anand, Hanish;
Gingras, Anne-Claude;
Prudent, Julien;
Shoubridge, Eric A.

Publication type:

Article

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.

Published in:

Life Science Alliance, 2023, v. 6, n. 6, p. 1, doi. 10.26508/lsa.202301914

By:

Schuettpelz, Jana;
Janer, Alexandre;
Antonicka, Hana;
Shoubridge, Eric A.

Publication type:

Article

Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.

Published in:

Nucleic Acids Research, 2020, v. 48, n. 14, p. 7924, doi. 10.1093/nar/gkaa592

By:

Maiti, Priyanka;
Antonicka, Hana;
Gingras, Anne-Claude;
Shoubridge, Eric A;
Barrientos, Antoni

Publication type:

Article

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293

By:

Janer, Alexandre;
van Karnebeek, Clara DM;
Sasarman, Florin;
Antonicka, Hana;
Al Ghamdi, Malak;
Shyr, Casper;
Dunbar, Mary;
Stockler-Ispiroglu, Sylvia;
Ross, Colin J;
Vallance, Hilary;
Dionne, Janis;
Wasserman, Wyeth W;
Shoubridge, Eric A

Publication type:

Article

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208

By:

Smits, Paulien;
Antonicka, Hana;
van Hasselt, Peter M.;
Weraarpachai, Woranontee;
Haller, Wolfram;
Schreurs, Marieke;
Venselaar, Hanka;
Rodenburg, Richard J.;
Smeitink, Jan A.;
van den Heuvel, Lambert P.

Publication type:

Article

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149

By:

Hinttala, Reetta;
Sasarman, Florin;
Nishimura, Tamiko;
Antonicka, Hana;
Brunel-Guitton, Catherine;
Schwartzentruber, Jeremy;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Faubert, Denis;
Ostergaard, Elsebet;
Smeitink, Jan A.;
Shoubridge, Eric A.

Publication type:

Article

The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044

By:

Sasarman, Florin;
Thiffault, Isabelle;
Weraarpachai, Woranontee;
Salomon, Steven;
Maftei, Catalina;
Gauthier, Julie;
Ellazam, Benjamin;
Webb, Neil;
Antonicka, Hana;
Janer, Alexandre;
Brunel-Guitton, Catherine;
Elpeleg, Orly;
Mitchell, Grant;
Shoubridge, Eric A.

Publication type:

Article

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 480, doi. 10.1093/hmg/ddu46

By:

Sasarman, Florin;
Nishimura, Tamiko;
Antonicka, Hana;
Weraarpachai, Woranontee;
Shoubridge, Eric A.

Publication type:

Article

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 23, p. 4634, doi. 10.1093/hmg/ddr397

By:

Sasarman, Florin;
Antonicka, Hana;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3697, doi. 10.1093/hmg/ddn265

By:

Sasarman, Florin;
Antonicka, Hana;
Shoubridge, Eric A.

Publication type:

Article

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1835, doi. 10.1093/hmg/ddl106

By:

Antonicka, Hana;
Sasarman, Florin;
Kennaway, Nancy G.;
Shoubridge, Eric A.

Publication type:

Article

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2693, doi. 10.1093/hmg/ddg284

By:

Antonicka, Hana;
Leary, Scot C.;
Guercin, Guy-Hellen;
Agar, Jeffrey N.;
Horvath, Rita;
Kennaway, Nancy G.;
Harding, Cary O.;
Jaksch, Michaela;
Shoubridge, Eric A.

Publication type:

Article

A novel deficiency of mitochondrial ATPase of nuclear origin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 1967

By:

Houstek, Josef;
Klement, Petr;
Floryk, Daniel;
Antonicka, Hana;
Hermanska, Jana;
Kalous, Martin;
Hansikova, Hana;
Houstkova, Hana;
Chowdhury, Subir K. R.;
Rosipal, Stefan;
Kmoch, Stanislav;
Stratilova, Leona;
Zeman, Jiri

Publication type:

Article

The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches.

Published in:

Nucleic Acids Research, 2024, v. 52, n. 16, p. 9710, doi. 10.1093/nar/gkae645

By:

Brischigliaro, Michele;
Krüger, Annika;
Moran, J Conor;
Antonicka, Hana;
Ahn, Ahram;
Shoubridge, Eric A;
Rorbach, Joanna;
Barrientos, Antoni

Publication type:

Article

BOLA3 and NFU1 link mitoribosome iron–sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.

Published in:

Nucleic Acids Research, 2023, v. 51, n. 21, p. 11797, doi. 10.1093/nar/gkad842

By:

Zhong, Hui;
Janer, Alexandre;
Khalimonchuk, Oleh;
Antonicka, Hana;
Shoubridge, Eric A;
Barrientos, Antoni

Publication type:

Article

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

Published in:

Nature Genetics, 2009, v. 41, n. 7, p. 833, doi. 10.1038/ng.390

By:

Weraarpachai, Woranontee;
Antonicka, Hana;
Sasarman, Florin;
Seeger, Jürgen;
Schrank, Bertold;
Kolesar, Jill E;
Lochmüller, Hanns;
Chevrette, Mario;
Kaufman, Brett A.;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article