49,042 research outputs found
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
Get PDFIsolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 paediatric patients with isolated complex I deficiency, identifying pathogenic mutations in 6 patients. These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome. Three of these children harboured an identical NDUFS2 mutation (c.875T>C, p.M292T), which was also identified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian child who presented to a different diagnostic centre, with microsatellite and single nucleotide polymorphism analyses indicating that this was due to an ancient common founder event. Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes
David Mauldin and Leigh MacKeen
No full textDavid Mauldin and Leigh MacKeenhttps://digitalmaine.com/dmr_images/4823/thumbnail.jp
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The David W. Fentress Family Letters, 1856-1969
No full textTranscript of a letter by an unidentified author to David Fentress regarding sharing federal newspapers and the banning of federal newspapers in some areas. The author passes on the news of the war including the destruction of the Federal merchantmen by the Confederate fleet. He passes along world news: Russia preparing to go to War with Europe and how that could negatively affect the Confederacy. There is also speculation on the future of the war
The David W. Fentress Family Letters, 1856-1969
No full textTranscript of a letter by an unidentified author to David Fentress regarding sharing federal newspapers and the banning of federal newspapers in some areas. The author passes on the news of the war including the destruction of the Federal merchantmen by the Confederate fleet. He passes along world news: Russia preparing to go to War with Europe and how that could negatively affect the Confederacy. There is also speculation on the future of the war
Photographic Work Exhibited in 'Between Today and Yesterday', Turnpike Gallery, Leigh, Manchester, (2007), curated by David Walker
No full textPhotographic work was exhibited in 'Between Today and Yesterday', Turnpike Gallery, Leigh, Manchester, (2007), curated by David Walker. This exhibition was a thought provoking exhibition that included contemporary leading UK photo-artists. There was a fully illustrated catalogue
David Grimes and Leigh Ann Courington
No full textJacksonville State University students David Grimes and Leigh Ann Courington stand together, possibly during the Military Ball.https://digitalcommons.jsu.edu/rotc_photos/6868/thumbnail.jp
Bookplate Leigh Hobbs
No full textMedium: wood engravingprintsnot signed, not dated."Bookplate Leigh Hobbs" [2014.0101.000.000], Frazer, DavidArtist and Role: Frazer, David,Extent: imageExtent: shee
Portrait of author David Foster at the National Library of Australia, Canberra, 8 June 2011 /
No full textTitle from acquisitions documentation.; Part of the collection: Portraits of author David Foster at the National Library of Australia, Canberra, 8 June 2011.; Acquired in digital format; access copy available online.; Mode of access: Online.; Photographed by a staff member of the National Library of Australia
Author David Foster with academic Jeff Doyle at the National Library of Australia, Canberra, 8 June 2011 /
No full textTitle from acquisitions documentation.; Part of the collection: Portraits of author David Foster at the National Library of Australia, Canberra, 8 June 2011.; Acquired in digital format; access copy available online.; Mode of access: Online.; Photographed by a staff member of the National Library of Australia
Author David Foster and academic Jeff Doyle at the National Library of Australia, Canberra, 8 June 2011 /
No full textTitle from acquisitions documentation.; Part of the collection: Portraits of author David Foster at the National Library of Australia, Canberra, 8 June 2011.; Acquired in digital format; access copy available online.; Mode of access: Online.; Photographed by a staff member of the National Library of Australia
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