Emmanuelle C Genin
Overview
Explore the profile of Emmanuelle C Genin including associated specialties, affiliations and a list of published articles.
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26
Citations
610
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Recent Articles
1.
Ropert B, Bannwarth S, Genin E, Vaillant-Beuchot L, Lacas-Gervais S, Hounoum B, et al.
Brain
. 2024 Oct;
PMID: 39478664
The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that...
2.
Genin E, di Borgo P, Lorivel T, Hugues S, Farinelli M, Mauri-Crouzet A, et al.
Neurobiol Dis
. 2024 Apr;
195:106498.
PMID: 38583639
CHCHD10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We generated a knock-in mouse model bearing the p.Ser59Leu (S59L)...
3.
Genin E, Abou-Ali M, Paquis-Flucklinger V
Genes (Basel)
. 2023 Nov;
14(11).
PMID: 38002924
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all the factors involved in ALS, mitochondria have been...
4.
Genin E, Bannwarth S, Ropert B, Lespinasse F, Mauri-Crouzet A, Auge G, et al.
Brain
. 2022 Jun;
145(10):3415-3430.
PMID: 35656794
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the...
5.
Genin E, Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, et al.
Acta Neuropathol
. 2019 Mar;
138(1):123-145.
PMID: 30874923
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation...
6.
Genin E, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, et al.
Neurobiol Dis
. 2018 Aug;
119:159-171.
PMID: 30092269
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy...
7.
Caron N, Genin E, Marlier Q, Verteneuil S, Beukelaers P, Morel L, et al.
Cell Mol Life Sci
. 2018 May;
75(20):3817-3827.
PMID: 29728713
Neural stem cells give rise to granule dentate neurons throughout life in the hippocampus. Upon activation, these stem cells generate fast proliferating progenitors that complete several rounds of divisions before...
8.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, et al.
Am J Hum Genet
. 2016 Dec;
100(1):151-159.
PMID: 27989324
MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic...
9.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin E, Lacas-Gervais S, Fragaki K, et al.
Brain
. 2016 Jan;
139(Pt 4):e22.
PMID: 26719380
No abstract available.
10.
Genin E, Plutino M, Bannwarth S, Villa E, Cisneros-Barroso E, Roy M, et al.
EMBO Mol Med
. 2015 Dec;
8(1):58-72.
PMID: 26666268
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10...