Veronika Boczonadi

Veronika Boczonadi

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Veronika Boczonadi

Veronika Boczonadi

Publications by authors named "Veronika Boczonadi"

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26Publications

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Mitochondrial DNA transcription and translation: clinical syndromes.

Essays Biochem 2018 07 20;62(3):321-340. Epub 2018 Jul 20.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K.

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http://dx.doi.org/10.1042/EBC20170103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056718PMC
July 2018

The role of tRNA synthetases in neurological and neuromuscular disorders.

FEBS Lett 2018 03 1;592(5):703-717. Epub 2018 Feb 1.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/1873-3468.12962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873386PMC
March 2018

Genetic heterogeneity of motor neuropathies.

Neurology 2017 Mar 1;88(13):1226-1234. Epub 2017 Mar 1.

From the MRC Centre for Neuromuscular Diseases and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., H.G., T.E., J.D., A.B., V.B., H.S., E.F., A.P., H.L., P.F.C., R.H.), and Institute of Neuroscience (R.G.W., J.M.), Newcastle University, Newcastle upon Tyne; Bristol Genetics Laboratory (T.A., M.G., N.F.), Pathology Sciences, North Bristol NHS Trust, Southmead Hospital; Medical Genetic Center (S.K.), Munich, Germany; Department of Paediatric Neurology (V.R.), Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hospitals NHS Trust; Nuffield Department of Clinical Neurosciences (E.F.), University of Oxford; and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373778PMC
March 2017

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins.

Methods Enzymol 2016 6;569:309-29. Epub 2015 Jul 6.

School of Biological and Biomedical Sciences, Durham University, Durham, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00766879150036
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http://dx.doi.org/10.1016/bs.mie.2015.06.019DOI Listing
October 2016

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

J Neuromuscul Dis 2016 08;3(3):363-379

Wellcome Trust Mitochondrial Research Centre and the John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.3233/JND-160178DOI Listing
August 2016

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Hum Mol Genet 2016 07 18;25(14):2985-2996. Epub 2016 May 18.

Institute of Genetic Medicine, Newcastle University, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/hmg/ddw149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591PMC
July 2016

Mitochondrial dysfunction in liver failure requiring transplantation.

J Inherit Metab Dis 2016 05 6;39(3):427-436. Epub 2016 Apr 6.

Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre and Wellcome Trust Centre for Mitochondrial Research, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s10545-016-9927-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851707PMC
May 2016

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing.

EMBO Mol Med 2016 Mar;8(3):173-5

Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.

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http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201506
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http://dx.doi.org/10.15252/emmm.201506050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772956PMC
March 2016

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.

Int J Biochem Cell Biol 2015 Jun 7;63:32-40. Epub 2015 Feb 7.

Institute of Genetic Medicine, Wellcome Trust Mitochondrial Research Centre, Newcastle University, Central Parkway NE1 3BZ Newcastle upon Tyne, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13572725150003
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http://dx.doi.org/10.1016/j.biocel.2015.01.025DOI Listing
June 2015

Reversible infantile mitochondrial diseases.

J Inherit Metab Dis 2015 May 19;38(3):427-35. Epub 2014 Nov 19.

Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s10545-014-9784-6DOI Listing
May 2015

Mitochondria: impaired mitochondrial translation in human disease.

Int J Biochem Cell Biol 2014 Mar 8;48:77-84. Epub 2014 Jan 8.

Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2013.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988845PMC
March 2014

Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes.

FEBS Lett 2012 Sep 24;586(19):3090-6. Epub 2012 Jul 24.

School of Biological and Biomedical Sciences, Durham University, Durham, United Kingdom.

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http://doi.wiley.com/10.1016/j.febslet.2012.07.057
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http://dx.doi.org/10.1016/j.febslet.2012.07.057DOI Listing
September 2012

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration.

Exp Cell Res 2007 Oct 14;313(16):3579-91. Epub 2007 Jul 14.

Centre for Stem Cell Research and Regenerative Medicine, School of Biological and Biomedical Sciences, University of Durham, DH1 3LE, Durham, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00144827070032
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http://dx.doi.org/10.1016/j.yexcr.2007.07.005DOI Listing
October 2007

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets.

J Cell Sci 2006 Dec;119(Pt 24):5147-59

Centre for Stem Cell Research and Regenerative Medicine, School of Biological and Biomedical Sciences, University of Durham, Durham, DH1 3LE, UK.

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http://dx.doi.org/10.1242/jcs.03304DOI Listing
December 2006