Faiza Fakhfakh Selected Research

Val Transfer RNA

6/2013	Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.
4/2011	A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.
7/2009	Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

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Faiza Fakhfakh Research Topics

Disease

7	Mitochondrial Diseases (Mitochondrial Disease) 05/2021 - 04/2007
7	Hearing Loss (Hearing Impairment) 01/2017 - 05/2008
6	Rett Syndrome (Rett's Disorder) 12/2019 - 02/2009
5	Cardiomyopathies (Cardiomyopathy) 01/2018 - 01/2011
4	Leigh Disease (Leigh's Disease) 01/2018 - 06/2009
3	Muscular Diseases (Myopathy) 01/2019 - 12/2012
3	Deafness (Deaf Mutism) 04/2015 - 05/2008
3	Neoplasms (Cancer) 10/2012 - 05/2012
3	Muscular Dystrophies (Muscular Dystrophy) 02/2008 - 01/2003
2	Brain Diseases (Brain Disorder) 10/2022 - 01/2021
2	Glycogen Storage Disease Type II (Pompe's Disease) 07/2020 - 12/2012
2	Pain (Aches) 08/2019 - 01/2014
2	Cholelithiasis 08/2019 - 01/2017
2	Demyelinating Diseases (Demyelinating Disease) 09/2018 - 01/2013
2	Renal Insufficiency (Renal Failure) 08/2018 - 10/2017
2	Nephrocalcinosis 08/2018 - 10/2017
2	AIDS-Related Complex (ARC) 01/2018 - 04/2016
2	Primary hyperoxaluria type 1 10/2017 - 12/2013
2	Hemorrhage 09/2017 - 05/2010
2	Factor XIII Deficiency 09/2017 - 04/2017
2	Chromosome Aberrations (Chromosome Abnormalities) 01/2016 - 07/2012
2	Neurodevelopmental Disorders 11/2015 - 05/2012
2	Male Infertility (Male Sterility) 09/2014 - 07/2011
2	Rheumatoid Arthritis 01/2014 - 06/2012
2	Noninsulin-dependent diabetes mellitus with deafness 06/2013 - 02/2013
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 06/2013 - 01/2011
2	MELAS Syndrome (Syndrome, MELAS) 06/2013 - 04/2011
2	Seizures (Absence Seizure) 04/2013 - 01/2013
2	Limb-girdle muscular dystrophy type 2A 02/2012 - 04/2011
1	Cerebellar Ataxia (Dysmetria) 12/2021
1	Ataxia with vitamin E deficiency 12/2021
1	Infantile Spasms (West Syndrome) 02/2019
1	Chanarin-Dorfman Syndrome 01/2019
1	Optic Atrophy 01/2019
1	Congenital Ichthyosiform Erythroderma 01/2019
1	Visceral myopathy familial external ophthalmoplegia 01/2019
1	Disease Progression 11/2018
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 09/2018
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2018
1	Hypocalcemia 08/2018
1	Hypercalciuria 08/2018
1	Hypoparathyroidism 08/2018
1	Methylmalonic acidemia 01/2018
1	Urolithiasis 10/2017
1	Liver Diseases (Liver Disease) 12/2016
1	progressive familial intrahepatic 1 Cholestasis 12/2016
1	Nervous System Diseases (Neurological Disorders) 04/2016
1	Insulin Resistance 03/2016
1	Heart Failure 01/2016

Drug/Important Bio-Agent (IBA)

16	Mitochondrial DNA (mtDNA)IBA 05/2021 - 05/2008
8	Proteins (Proteins, Gene)FDA Link 10/2022 - 02/2008
7	EnzymesIBA 07/2020 - 05/2012
5	Methyl-CpG-Binding Protein 2IBA 12/2019 - 02/2009
5	12S ribosomal RNAIBA 06/2013 - 02/2006
5	Messenger RNA (mRNA)IBA 10/2012 - 01/2007
3	AcidsIBA 07/2020 - 12/2012
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2020 - 01/2017
3	Transfer RNA (tRNA)IBA 01/2018 - 04/2016
3	Val Transfer RNAIBA 06/2013 - 07/2009
3	Ser Transfer RNAIBA 01/2013 - 02/2006
3	Leu Transfer RNAIBA 12/2010 - 04/2007
3	Adenosine Triphosphatases (ATPase)IBA 06/2010 - 06/2009
2	GlucosidasesIBA 07/2020 - 12/2012
2	Carrier Proteins (Binding Protein)IBA 12/2019 - 11/2015
2	Phospholipids (Phosphatides)FDA LinkGeneric 08/2019 - 01/2017
2	LipidsIBA 01/2019 - 09/2013
2	Adenosine Triphosphate (ATP)IBA 02/2018 - 01/2013
2	glyoxylic acid (glyoxylate)IBA 10/2017 - 12/2013
2	Factor XIII (Coagulation Factor XIII)IBA 09/2017 - 05/2010
2	DNA (Deoxyribonucleic Acid)IBA 04/2017 - 01/2016
2	Peptides (Polypeptides)IBA 04/2017 - 01/2014
2	Insulin (Novolin)FDA Link 04/2015 - 09/2013
2	Rheumatoid FactorIBA 01/2014 - 06/2012
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 07/2013 - 01/2011
2	Ile Transfer RNAIBA 06/2013 - 01/2011
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 04/2013 - 01/2013
2	Nonsense Codon (Nonsense Mutation)IBA 03/2013 - 04/2011
2	Laminin (Merosin)IBA 01/2007 - 01/2003
2	Creatine Kinase (Creatine Phosphokinase)IBA 02/2004 - 01/2003
1	alpha-tocopherol transfer proteinIBA 12/2021
1	Vitamin E FDA LinkGeneric 12/2021
1	Tissue Plasminogen Activator (Alteplase)FDA Link 12/2021
1	metabotropic glutamate receptor 7IBA 01/2021
1	LigandsIBA 01/2021
1	Thymidine PhosphorylaseIBA 01/2019
1	Triglycerides (Triacylglycerol)IBA 01/2019
1	SolutionsIBA 11/2018
1	Sulfoglycosphingolipids (Sulfatides)IBA 09/2018
1	Vitamin D FDA LinkGeneric 08/2018
1	AntioxidantsIBA 02/2018
1	succinyl-coenzyme A (succinyl-CoA)IBA 01/2018
1	Ligases (Synthetase)IBA 01/2018
1	Cytochromes c (Cytochrome c)IBA 01/2018
1	OxalatesIBA 10/2017
1	Calcium OxalateIBA 10/2017
1	CalciumIBA 04/2017
1	Amino Acids FDA Link 04/2017
1	multidrug resistance protein 3IBA 12/2016
1	Insulin ReceptorIBA 03/2016

Therapy/Procedure

1	Cholecystectomy 08/2019