Sara Seneca Team

Mitochondrial DNA diseases

Papers in international peer-reviewed journals (2010 – present)

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet. 2015 Apr 13;6:123.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. J Inherit Metab Dis. 2015 Nov;38(6):1147-53.

Vancampenhout K, Caljon B, Spits C, Stouffs K, Jonckheere A, De Meirleir L, Lissens W, Vanlander A, Smet J, De Paepe B, Van Coster R, Seneca S. A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome. PLoS One. 2014 Nov 10;9(11):e112950.

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R. Two Siblings with Homozygous Pathogenic Splice Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2). Hum Mutat. 2014 Nov 11

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houstek J. Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J. 2015 Jan 15.

Marín-Buera L, García-Bartolomé A, Morán M, López-Bernardo E, Cadenas S, Hidalgo B, Sánchez R, Seneca S, Arenas J, Martín MA, Ugalde C. Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. J Proteomics. 2014 Sep 18;113C:38-56.

De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions. Eur J Pediatr. 2014 Jul 10.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. Mitochondrion. 2014 Jul;17:101-5.

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L. Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Eur J Hum Genet. 2014 Mar 26.

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J Paediatr Neurol. 2013 Nov;17(6):625-30.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency. J Inherit Metab Dis. 2014 Jan;37(1):53-62.

De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Phytother Res. 2013 Apr 26.

Van Haute L, Spits C, Geens M, Seneca S, Sermon K. Human embryonic stem cells commonly display large mitochondrial DNA deletions. Nat Biotechnol. 2013 Jan 9;31(1):20-3.

Kasapkara CS, Tümer L, Küçükçongar A, Hasanoğlu A, Seneca S, De Meirleir L. DGUOK-related Mitochondrial Depletion Syndrome In A Child With An Early Diagnosis of GSD. J Pediatr Gastroenterol Nutr. 2013 Nov;57(5):e28-9.

De Paepe B, Smet J, Vanlander A, Seneca S, Lissens W, De Meirleir L, Vandewoestyne M, Deforce D, Rodenburg RJ, Van Coster R. Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects. Pediatr Res. 2012 Sep;72(3):232-40.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. Eur J Paediatr Neurol. 2012 Sep;16(5):542-8.

Vanlander AV, Jorens PG, Smet J, De Paepe B, Verbrugghe W, Van Den Eynden GG, Meire F, Pauwels P, Van Der Aa N, Seneca S, Lissens W, Okun JG, Van Coster R. Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome. Acta Anaesthesiol Scand. 2012 Apr;56(4):520-5

Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome. Turk J Pediatr. 2011. Jan-Feb;53(1):79-82.

Smet J, 81. De Paepe B, Seneca S, Lissens W, Kotarsky H, De Meirleir L, Fellman V, Van Coster R. Complex III staining in blue native polyacrylamide gels. J Inherit Metab Dis. 2011 Jun;34(3):741-7.

Robberecht K, Decock C, Stevens A, Seneca S, De Bleecker J, Leroy BP. Ptosis as an associated finding in maternally inherited diabetes and deafness. Ophthalmic Genet. 2010 Dec;31(4):240-3.

Morán M, Marín-Buera L, Gil-Borlado MC, Rivera H, Blázquez A, Seneca S, Vázquez-López M, Arenas J, Martín MA, Ugalde C. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat. 2010 Aug;31(8):930-41.

Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3.

Meulemans A, Seneca S, Pribyl T, Smet J, Alderweirld V, Waeytens A, Lissens W, Van Coster R, De Meirleir L, di Rago JP, Gatti DL, Ackerman SH. Defining the pathogenesis of the human ATP12p W94R mutation using a saccharomyces cerevisiae yeast model. J Biol Chem. 2010 Febr; 5,285(6):4099-109.

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