Literature DB >> 8739943

A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.

S Seneca1, M Abramowicz, W Lissens, M F Muller, E Vamos, L de Meirleir.   

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Year:  1996        PMID： 8739943     DOI： 10.1007/bf01799407

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

2.  Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.

Authors:  B Gérard; T Bourgeron; D Chretien; A Rötig; A Munnich; P Rustin
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

3.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

4.  Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

Authors:  L De Meirleir; S Seneca; W Lissens; E Schoentjes; B Desprechins
Journal:  Pediatr Neurol       Date:  1995-10       Impact factor: 3.372
  4 in total
  9 in total

1.  Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

Authors:  Pavel Jesina; Markéta Tesarová; Daniela Fornůsková; Alena Vojtísková; Petr Pecina; Vilma Kaplanová; Hana Hansíková; Jirí Zeman; Josef Houstek
Journal:  Biochem J       Date:  2004-11-01       Impact factor: 3.857

2.  Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Authors:  Sara Seneca; Kim Vancampenhout; Rudy Van Coster; Joél Smet; Willy Lissens; Arnaud Vanlander; Boel De Paepe; An Jonckheere; Katrien Stouffs; Linda De Meirleir
Journal:  Eur J Hum Genet       Date:  2014-03-26       Impact factor: 4.246

3.  Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons.

Authors:  Zofia M A Chrzanowska-Lightowlers; Richard J Temperley; Paul M Smith; Sara H Seneca; Robert N Lightowlers
Journal:  Biochem J       Date:  2004-02-01       Impact factor: 3.857

Review 4.  Mitochondrial ATP synthase: architecture, function and pathology.

Authors:  An I Jonckheere; Jan A M Smeitink; Richard J T Rodenburg
Journal:  J Inherit Metab Dis       Date:  2011-08-27       Impact factor: 4.982

Review 5.  Mitochondrial transcript maturation and its disorders.

Authors:  Lindsey Van Haute; Sarah F Pearce; Christopher A Powell; Aaron R D'Souza; Thomas J Nicholls; Michal Minczuk
Journal:  J Inherit Metab Dis       Date:  2015-05-28       Impact factor: 4.982

Review 6.  ATP Synthase Diseases of Mitochondrial Genetic Origin.

Authors:  Alain Dautant; Thomas Meier; Alexander Hahn; Déborah Tribouillard-Tanvier; Jean-Paul di Rago; Roza Kucharczyk
Journal:  Front Physiol       Date:  2018-04-04       Impact factor: 4.566

7.  Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.

Authors:  Kah Ying Ng; Uwe Richter; Christopher B Jackson; Sara Seneca; Brendan J Battersby
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

8.  Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Authors:  Alena Cízková; Viktor Stránecký; Robert Ivánek; Hana Hartmannová; Lenka Nosková; Lenka Piherová; Markéta Tesarová; Hana Hansíková; Tomás Honzík; Jirí Zeman; Petr Divina; Andrea Potocká; Jan Paul; Wolfgang Sperl; Johannes A Mayr; Sara Seneca; Josef Houstĕk; Stanislav Kmoch
Journal:  BMC Genomics       Date:  2008-01-25       Impact factor: 3.969

9.  Mitochondrial stress response triggered by defects in protein synthesis quality control.

Authors:  Uwe Richter; Kah Ying Ng; Fumi Suomi; Paula Marttinen; Taina Turunen; Christopher Jackson; Anu Suomalainen; Helena Vihinen; Eija Jokitalo; Tuula A Nyman; Marita A Isokallio; James B Stewart; Cecilia Mancini; Alfredo Brusco; Sara Seneca; Anne Lombès; Robert W Taylor; Brendan J Battersby
Journal:  Life Sci Alliance       Date:  2019-01-25
  9 in total

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