Author

Karthyayani Rajamani

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:metabolomics· 1 Approach:statistical model· 1

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Adolfo SaiardiiD· 1 shared Arnold MünnichiD· 1 shared Catherine Fossoud· 1 shared Céline BanaliD· 1 shared Christine Bôle‐FeysotiD· 1 shared Damir Musaev· 1 shared Daniel Medina-CanoiD· 1 shared Ekin Ucuncu· 1 shared

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2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adolfo SaiardiORCID

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1 paper

Recent·Most cited

MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha Saad Zaki, , Vincent Cantagrel

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

Nature Communications · Nov 30, 2020Peer-reviewedGenetics