Publications by authors named "Sze Chern Lim"

9Publications

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Neurogenetics 2019 03 3;20(1):9-25. Epub 2019 Jan 3.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.

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http://link.springer.com/10.1007/s10048-018-0561-9
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http://dx.doi.org/10.1007/s10048-018-0561-9DOI Listing
March 2019

Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.

FASEB J 2016 06 29;30(6):2236-48. Epub 2016 Feb 29.

Centre for Genetic Diseases, Hudson Institute of Medical Research, Clayton, Melbourne, Victoria, Australia; Monash University, Clayton, Melbourne, Victoria, Australia

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http://dx.doi.org/10.1096/fj.201500137RDOI Listing
June 2016

Anti-cancer analogues ME-143 and ME-344 exert toxicity by directly inhibiting mitochondrial NADH: ubiquinone oxidoreductase (Complex I).

Am J Cancer Res 2015 15;5(2):689-701. Epub 2015 Jan 15.

Centre for Genetic Diseases, MIMR-PHI Institute of Medical Research Melbourne, VIC 3168, Australia ; Monash University Melbourne, VIC 3800, Australia.

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http://www.ajcr.us/files/ajcr0003000.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396027PMC
May 2015

Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.

Hum Mutat 2014 Dec;35(12):1476-84

Centre for Genetic Diseases, MIMR-PHI Institute of Medical Research, Monash University, Clayton, Victoria, 3168, Australia; Monash University, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1002/humu.22694DOI Listing
December 2014

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014