Florin Sasarman

Florin Sasarman

UNVERIFIED PROFILE

Are you Florin Sasarman?   Register this Author

Register author
Florin Sasarman

Florin Sasarman

Publications by authors named "Florin Sasarman"

Are you Florin Sasarman?   Register this Author

29Publications

1194Reads

49Profile Views

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

J Inherit Metab Dis 2016 Mar 21;39(2):173-88. Epub 2015 Dec 21.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9903-zDOI Listing
March 2016

Mitochondrial Diseases and Cardiomyopathies.

Can J Cardiol 2015 Nov 28;31(11):1360-76. Epub 2015 Aug 28.

Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cjca.2015.08.017DOI Listing
November 2015

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Hum Mol Genet 2015 Jan 11;24(2):480-91. Epub 2014 Sep 11.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275074PMC
January 2015

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

Hum Mol Genet 2014 Oct 16;23(19):5159-70. Epub 2014 May 16.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada H3A 2B4

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159157PMC
October 2014

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Hum Mutat 2013 Oct 12;34(10):1366-70. Epub 2013 Aug 12.

Department of Biochemistry, University of Saskatchewan, Saskatoon, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22385DOI Listing
October 2013

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.

Cell Metab 2013 Mar;17(3):386-98

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cmet.2013.02.006DOI Listing
March 2013

The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.

Mol Biol Cell 2013 Feb 21;24(3):184-93. Epub 2012 Nov 21.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1091/mbc.E12-09-0651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564531PMC
February 2013

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Hum Mutat 2012 Aug 7;33(8):1201-6. Epub 2012 May 7.

Montreal Neurological Institute, McGill University, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22098DOI Listing
August 2012

Radioactive labeling of mitochondrial translation products in cultured cells.

Methods Mol Biol 2012 ;837:207-17

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-61779-504-6_14DOI Listing
April 2012

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Mol Biol Cell 2010 Apr 3;21(8):1315-23. Epub 2010 Mar 3.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

View Article

Download full-text PDF

Source
http://www.molbiolcell.org/doi/10.1091/mbc.e10-01-0047
Publisher Site
http://dx.doi.org/10.1091/mbc.e10-01-0047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854090PMC
April 2010

Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes.

Methods Mol Biol 2009 ;554:143-62

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/978-1-59745-521-3_10
Publisher Site
http://dx.doi.org/10.1007/978-1-59745-521-3_10DOI Listing
October 2009

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

Hum Mol Genet 2009 Jun 31;18(12):2230-40. Epub 2009 Mar 31.

Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada H3A 2B4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp158DOI Listing
June 2009

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Hum Mol Genet 2008 Dec 27;17(23):3697-707. Epub 2008 Aug 27.

Montreal Neurological Institute, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn265DOI Listing
December 2008

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Hum Mol Genet 2006 Jun 21;15(11):1835-46. Epub 2006 Apr 21.

Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddl106DOI Listing
June 2006

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.

J Biol Chem 2006 May 6;281(18):12270-6. Epub 2006 Mar 6.

Department of Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M600496200DOI Listing
May 2006

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

N Engl J Med 2004 Nov;351(20):2080-6

Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa041878DOI Listing
November 2004

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.

Hum Mol Genet 2002 Jul;11(14):1669-81

Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada, H3A 2B4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.14.1669DOI Listing
July 2002