Presentation
Marine is a study engineer in the team of Mickaël Ménager.
She started working in September 2012 at Curie Institute as an assistant engineer in the team of Alain Nicolas "Recombination and Genetic Instability". She helped a doctoral student to study the mechanisms of meiotic recombination in yeast for a year. Then she worked for four years at Cochin Institute as a study engineer in the "Functional pharmacology and physiopathology of membrane receptors" team of Ralf Jockers. Her first project was to study the interaction between GPR50 and Nogo-A, a neuronal growth inhibitor. Then she worked on a project on Alzheimer's disease by studying the aggregation of Tau and Abeta proteins.
Since September 2017, Marine works under the direction of Mickaël Ménager on the understanding of the molecular mechanisms in the inflammatory response and the production of interferon. She brings her technical expertise on the TSPAN7 and CLOCK projects in collaboration with a postdoctoral fellow (Brieuc Pérot) and a doctoral student (Victor Garcia). She is also working on the protein HIF1A, a regulator of the metabolic switch in order to study its impact on the inflammatory response.
She helped set up the emerging Single Cell technology of 10X Genomics within the institute and is now the reference person for the preparation of the various libraries (scRNA-seq, scATAC-seq, CITE-seq, Spatial Transcriptomic) for the team and their various collaborators. Thanks to this technique, she works on auto-inflammatory diseases in order to study them at the transcriptomic level and better characterize them.
Resources & publications
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Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)medRxiv
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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Journal (source)Cold Spring Harbor Laboratory
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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Journal (source)JAMA Ophthalmol
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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Journal (source)J Clin Invest
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
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Journal (source)Brain
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
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Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)EMBO Mol Med
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
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Journal (source)Brain
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-...
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Journal (source)Cell Rep
PCDH12 loss results in premature neuronal differentiation and impeded migrati...
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Journal (source)JAMA Neurol
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
-
Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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Journal (source)Am J Hum Genet
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
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Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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Journal (source)Brain
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
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Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
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Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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Journal (source)Science
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in...
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Journal (source)Int J Mol Sci
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ...
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Journal (source)JAMA Ophthalmol
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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Journal (source)Genes (Basel)
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 P...
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Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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Journal (source)Adv Exp Med Biol
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated wi...
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Journal (source)Adv Exp Med Biol
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusu...
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Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Invest Ophthalmol Vis Sci
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Tra...
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Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Mol Ther Nucleic Acids
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
-
Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
-
Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
-
Journal (source)Adv Exp Med Biol
Leber congenital amaurosis--genotyping required for possible inclusion in a c...
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Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...