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Hana Antonicka

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Hana Antonicka; Tamiko Nishimura; Vincent Paupe; Florin Sasarman; Eric A Shoubridge
The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.
Alexandre Janer; Emilie Lalonde; Jacek Majewski; Tamiko Nishimura; Florin Sasarman; Hana Antonicka; Garry K Brown; Ruth M Brown; Eric A Shoubridge
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Woranontee Weraarpachai; Hana Antonicka; Karine Auré; Anne Lombès; Tamiko Nishimura; Agnès Rötig; Florin Sasarman; Eric A Shoubridge
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

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2013: Hana Antonicka; Tamiko Nishimura; Vincent Paupe; Florin Sasarman; Eric A Shoubridge
The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.
Cell metabolism 2013;17(3):386-98.
2012: Alexandre Janer; Emilie Lalonde; Jacek Majewski; Tamiko Nishimura; Florin Sasarman; Hana Antonicka; Garry K Brown; Ruth M Brown; Eric A Shoubridge
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
American journal of human genetics 2012;91(4):737-43.
2012: Woranontee Weraarpachai; Hana Antonicka; Karine Auré; Anne Lombès; Tamiko Nishimura; Agnès Rötig; Florin Sasarman; Eric A Shoubridge
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
American journal of human genetics 2012;90(1):142-51.
2011: Florin Sasarman; Hana Antonicka; Rita Horvath; Eric A Shoubridge
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
Human molecular genetics 2011;20(23):4634-43.
2011: Paulien Smits; Hana Antonicka; Peter M van Hasselt; Woranontee Weraarpachai; Wolfram Haller; Marco W Schreurs; Hanka Venselaar; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
European journal of human genetics : EJHG 2011;19(3):275-9.
2010: Hana Antonicka; Elsebet Ostergaard; Florin Sasarman; Woranontee Weraarpachai; Flemming Wibrand; Anne Marie B Pedersen; Richard J T Rodenburg; Marjo S van der Knaap; Jan A M Smeitink; Zofia M Chrzanowska-Lightowlers; Eric A Shoubridge
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
American journal of human genetics 2010;87(1):115-22.
2010: Florin Sasarman; Catherine Brunel-Guitton; Hana Antonicka; Timothy Wai; Eric A Shoubridge
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.
Molecular biology of the cell 2010;21(8):1315-23.
2009: Woranontee Weraarpachai; Hana Antonicka; Florin Sasarman; Jürgen Seeger; Bertold Schrank; Jill E Kolesar; Hanns Lochmüller; Mario Chevrette; Brett A Kaufman; Rita Horvath; Eric A Shoubridge
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nature genetics 2009;41(7):833-7.
2008: Florin Sasarman; Hana Antonicka; Eric A Shoubridge
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.
Human molecular genetics 2008;17(23):3697-707.
2008: Tatiana V Kramarova; Hana Antonicka; Josef Houstek; Barbara Cannon; Jan Nedergaard
A sequence predicted to form a stem-loop is proposed to be required for formation of an RNA-protein complex involving the 3'UTR of beta-subunit F0F1-ATPase mRNA.
Biochimica et biophysica acta 2008;1777(7-8):747-57.
2006: Jan A M Smeitink; Orly Elpeleg; Hana Antonicka; Heleen Diepstra; Ann Saada (Reisch); Paulien Smits; Florin Sasarman; Gert Vriend; Jasmine Jacob-Hirsch; Avraham Shaag; Gideon Rechavi; Brigitte Welling; Jurgen Horst; Richard J T Rodenburg; Bert van den Heuvel; Eric A Shoubridge
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
American journal of human genetics 2006;79(5):869-77.
2006: Hana Antonicka; Florin Sasarman; Nancy G Kennaway; Eric A Shoubridge
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
Human molecular genetics 2006;15(11):1835-46.
2006: A K J van Riesen; Hana Antonicka; Andreas Ohlenbusch; Eric A Shoubridge; Ekkehard Wilichowski
Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
Neuropediatrics 2006;37(2):88-94.
2006: Jordan P Lerner-Ellis; Jamie C Tirone; Peter D Pawelek; Carole Doré; Janet L Atkinson; David Watkins; Chantal F Morel; T Mary Fujiwara; Emily Moras; Angela Hosack; Gail V Dunbar; Hana Antonicka; Vince Forgetta; C Melissa Dobson; Daniel Leclerc; Roy A Gravel; Eric A Shoubridge; James W Coulton; Pierre Lepage; Johanna M Rommens; Kenneth Morgan; David S Rosenblatt
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Nature genetics 2006;38(1):93-100.
2004: Marieke Coenen; Hana Antonicka; Cristina Ugalde; Florin Sasarman; Rainer Rossi; J G A M Angelien Heister; Robert F Newbold; Frans J M Trijbels; Lambert P van den Heuvel; Eric A Shoubridge; Jan A M Smeitink
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
The New England journal of medicine 2004;351(20):2080-6.
2004: C E Oquendo; Hana Antonicka; Eric A Shoubridge; W Reardon; G K Brown
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
Journal of medical genetics 2004;41(7):540-4.
2003: Hana Antonicka; Isla Ogilvie; Tanja Taivassalo; Roberto P Anitori; Ronald G Haller; John Vissing; Nancy G Kennaway; Eric A Shoubridge
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency.
The Journal of biological chemistry 2003;278(44):43081-8.
2003: Hana Antonicka; Scot C Leary; Guy-Hellen Guercin; Jeffrey N Agar; Rita Horvath; Nancy G Kennaway; Cary O Harding; Michaela Jaksch; Eric A Shoubridge
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.
Human molecular genetics 2003;12(20):2693-702.
2003: Hana Antonicka; Andre Mattman; Christopher G Carlson; D Moira Glerum; Kristen C Hoffbuhr; Scot C Leary; Nancy G Kennaway; Eric A Shoubridge
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
American journal of human genetics 2003;72(1):101-14.
2000: Ulf Andersson; Hana Antonicka; Josef Houstek; Barbara Cannon
A novel principle for conferring selectivity to poly(A)-binding proteins: interdependence of two ATP synthase beta-subunit mRNA-binding proteins.
The Biochemical journal 2000;346 Pt 1():33-9.