Présentation
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L'équipe "Génétique des maladies mitochondriales" est composée de 7 groupes:
- Maturation des ARN et des protéines mitochondriales
- Maladies mitochondriales et réponse interféron
- Flux métaboliques, thérapie génique de la leucinose
- Ségrégation de l’ADNmt dans le développement embryo-foetal
- Homéostasie du fer dans l’ataxie de Friedreich
- Identification de gènes par génomique et transcriptomique
- Centre de référence des maladies mitochondriales (CARAMMEL)
Ressources & publications
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2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
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2019Journal (source)Biol. Cell
Cilia in hereditary cerebral anomalies.
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2019Journal (source)Biol. Cell
Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and ...
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2019Journal (source)Hum. Mol. Genet.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop...
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2015Journal (source)Cilia
The more we know, the more we have to discover: an exciting future for unders...
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2019Journal (source)Biol Cell
Cilia in hereditary cerebral anomalies.
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
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2023Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...
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2023Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...