Smet J - Search Results

1

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.

Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y, Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM. Rosier K, et al. Among authors: smet j. iScience. 2021 Nov 14;24(12):103460. doi: 10.1016/j.isci.2021.103460. eCollection 2021 Dec 17. iScience. 2021. PMID: 34888501 Free PMC article.

2

Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy.

Celie BM, Boone J, Smet JE, Vanlander AV, De Bleecker JL, Van Coster RN, Bourgois JG. Celie BM, et al. Among authors: smet je. Appl Spectrosc. 2015 Mar;69(3):342-7. doi: 10.1366/14-07604. Epub 2015 Feb 1. Appl Spectrosc. 2015. PMID: 25665184

3

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

De Paepe B, Smet J, Vanlander A, Seneca S, Lissens W, De Meirleir L, Vandewoestyne M, Deforce D, Rodenburg RJ, Van Coster R. De Paepe B, et al. Among authors: smet j. Pediatr Res. 2012 Sep;72(3):232-40. doi: 10.1038/pr.2012.84. Epub 2012 Jun 22. Pediatr Res. 2012. PMID: 22728747

4

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.

De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. De Paepe B, et al. Among authors: smet j. Phytother Res. 2014 Feb;28(2):312-6. doi: 10.1002/ptr.4988. Epub 2013 Apr 26. Phytother Res. 2014. PMID: 23620374

5

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R. Vantroys E, et al. Among authors: smet j. Orphanet J Rare Dis. 2018 May 21;13(1):80. doi: 10.1186/s13023-018-0822-6. Orphanet J Rare Dis. 2018. PMID: 29783990 Free PMC article.

6

Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans.

Vandecasteele SJ, Seneca S, Smet J, Reynders M, De Ceulaer J, Vanlander AV, van Coster R. Vandecasteele SJ, et al. Among authors: smet j. Clin Microbiol Infect. 2018 Apr;24(4):431.e1-431.e3. doi: 10.1016/j.cmi.2017.08.018. Epub 2017 Sep 1. Clin Microbiol Infect. 2018. PMID: 28870729 Free article.

7

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.

Hemelsoet DM, Vanlander AV, Smet J, Vantroys E, Acou M, Goethals I, Sante T, Seneca S, Menten B, Van Coster R. Hemelsoet DM, et al. Among authors: smet j. Neurol Genet. 2018 Nov 27;4(6):e298. doi: 10.1212/NXG.0000000000000298. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30569017 Free PMC article.

8

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

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. Vanlander AV, et al. Among authors: smet j. Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728. Hum Mutat. 2015. PMID: 25385316

9

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

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L. Seneca S, et al. Among authors: smet j. Eur J Hum Genet. 2015 Jan;23(1):41-8. doi: 10.1038/ejhg.2014.49. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667782 Free PMC article.

10

Neonatal lactic acidosis explained by LARS2 defect.

De Paepe B, Smet J, Kopajtich R, Prokisch H, Van Coster R, Vanlander A. De Paepe B, et al. Among authors: smet j. Pediatr Res. 2023 Mar;93(4):740-743. doi: 10.1038/s41390-022-02169-7. Epub 2022 Jun 24. Pediatr Res. 2023. PMID: 35750896 No abstract available.

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