Dominique Bonneau Selected Research

Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)

6/2020	Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
1/2018	The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.
1/2018	A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.
1/2017	Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.
3/2010	Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.
10/2009	OPA1-associated disorders: phenotypes and pathophysiology.
7/2009	Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
6/2008	Hereditary optic neuropathies share a common mitochondrial coupling defect.
5/2007	Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
6/2003	Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

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Dominique Bonneau Research Topics

Disease

10	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2021 - 06/2008
10	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 06/2020 - 06/2003
8	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 01/2017
8	Intellectual Disability (Idiocy) 01/2019 - 03/2010
7	Optic Nerve Diseases (Optic Neuropathy) 01/2021 - 02/2008
6	Neurodevelopmental Disorders 01/2022 - 01/2017
4	Glaucoma 01/2019 - 10/2004
4	Deafness (Deaf Mutism) 02/2017 - 11/2006
3	Optic Atrophy 01/2019 - 02/2008
3	MELAS Syndrome (Syndrome, MELAS) 05/2018 - 06/2012
3	Huntington Disease (Huntington's Disease) 01/2017 - 07/2011
3	Inherited Peripheral Neuropathy 12/2016 - 02/2010
3	Neoplasms (Cancer) 01/2014 - 09/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2011
2	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2020 - 01/2019
2	Type 2K Charcot-Marie-Tooth disease 01/2020 - 04/2009
2	Hypopigmentation (Hypomelanosis) 01/2019 - 04/2006
2	Autism Spectrum Disorder 01/2017 - 01/2017
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2017 - 01/2017
2	Schimke immunoosseous dysplasia 11/2016 - 09/2012
2	Fatigue 01/2015 - 02/2005
2	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer) 01/2014 - 10/2012
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2013 - 11/2006
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2011 - 04/2009
2	Polyneuropathies (Polyneuropathy) 02/2008 - 11/2006
2	Ataxia (Dyssynergia) 02/2008 - 11/2006
1	Metabolic Diseases (Metabolic Disease) 01/2022
1	Microcephaly 10/2021
1	Loeys-Dietz Syndrome 01/2021
1	Retinal Degeneration 01/2021
1	Spinocerebellar ataxia 28 06/2020
1	Hereditary Spastic Paraplegia 06/2020
1	Marfan Syndrome (Marfan's Syndrome) 04/2020
1	Premature Aging 01/2020
1	Hypopituitarism (Sheehan's Syndrome) 01/2020
1	Aortic Diseases 01/2020
1	Trichothiodystrophy Syndromes 01/2020
1	Disease Progression 01/2020
1	Inflammation (Inflammations) 01/2020
1	Ataxia Telangiectasia (Louis Bar Syndrome) 10/2019
1	Autistic Disorder (Autism) 01/2019
1	Photophobia (Light Sensitivity) 01/2019
1	Visceral myopathy familial external ophthalmoplegia 01/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Exfoliation Syndrome 01/2018
1	Insulin Resistance 01/2018
1	Ganglion Cysts (Ganglion) 10/2017
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 01/2017

Drug/Important Bio-Agent (IBA)

19	Mitochondrial DNA (mtDNA)IBA 01/2022 - 02/2008
11	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2007
6	Dynamins (Dynamin)IBA 01/2018 - 06/2003
5	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 09/2004
5	Retinaldehyde (Retinal)IBA 01/2019 - 03/2003
5	GTP Phosphohydrolases (GTPases)IBA 01/2018 - 06/2003
4	Amino Acids FDA Link 04/2020 - 11/2016
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2020 - 07/2012
3	ChromatinIBA 12/2019 - 09/2012
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 08/2015
2	Taurine FDA Link 01/2021 - 01/2019
2	Niacinamide (Nicotinamide)FDA LinkGeneric 01/2021 - 01/2019
2	Hormones (Hormone)IBA 01/2020 - 01/2015
2	SpermineIBA 01/2019 - 01/2018
2	Ketone BodiesIBA 05/2018 - 01/2017
2	Glucose (Dextrose)FDA LinkGeneric 05/2018 - 07/2011
2	PolyaminesIBA 01/2018 - 01/2018
2	SpermidineIBA 01/2018 - 11/2016
2	Proteasome Endopeptidase Complex (Proteasome)IBA 02/2017 - 01/2017
2	Biological ProductsIBA 02/2017 - 04/2011
2	Cysteamine (Mercaptamine)FDA Link 01/2017 - 02/2015
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2017 - 01/2017
1	HMGB1 Protein (HMG1)IBA 10/2021
1	Transforming Growth Factors (Transforming Growth Factor)IBA 01/2021
1	Aconitate Hydratase (Aconitase)IBA 01/2021
1	m-AAA proteasesIBA 06/2020
1	N 30IBA 01/2020
1	Glutathione Transferase (Glutathione S-Transferase)IBA 01/2020
1	ResveratrolIBA 01/2020
1	Transforming Growth Factor beta3 (TGF beta 3)IBA 01/2020
1	nicotinamide-beta-ribosideIBA 01/2020
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2020
1	CytokinesIBA 01/2020
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	Phosphotransferases (Kinase)IBA 10/2019
1	Sirolimus (Rapamycin)FDA Link 10/2019
1	Thymidine PhosphorylaseIBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 05/2018
1	CarbohydratesIBA 05/2018
1	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2018
1	Protein Isoforms (Isoforms)IBA 01/2018
1	Guanosine Triphosphate (GTP)IBA 01/2018
1	purineIBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 11/2017
1	Carisoprodol (Soma)FDA LinkGeneric 10/2017
1	Adenosine Triphosphatases (ATPase)IBA 02/2017
1	ATP dependent 26S protease (26S proteasome)IBA 02/2017
1	CollagenIBA 01/2017
1	Codon (Codons)IBA 01/2017

Therapy/Procedure

3	Therapeutics 05/2018 - 06/2012
2	Ketogenic Diet 05/2018 - 01/2017