MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.
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Nature Portfolio
2020
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oai:doaj.org-article:c86dc26738ec41afaa56ad56dca391962021-12-02T16:56:50ZMINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia10.1038/s41467-020-19919-y2041-1723https://doaj.org/article/c86dc26738ec41afaa56ad56dca391962020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19919-yhttps://doaj.org/toc/2041-1723Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.Ekin UcuncuKarthyayani RajamaniMiranda S. C. WilsonDaniel Medina-CanoNami AltinPierre DavidGiulia BarciaNathalie LefortCéline BanalMarie-Thérèse Vasilache-DanglesGaële PiteletElsa LorinoNathalie RabasseEric BiethMaha S. ZakiMeral TopcuFatma Mujgan SonmezDamir MusaevValentina StanleyChristine Bole-FeysotPatrick NitschkéArnold MunnichNadia Bahi-BuissonCatherine FossoudFabienne GiulianoLaurence ColleauxLydie BurglenJoseph G. GleesonNathalie BoddaertAdolfo SaiardiVincent CantagrelNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Ekin Ucuncu Karthyayani Rajamani Miranda S. C. Wilson Daniel Medina-Cano Nami Altin Pierre David Giulia Barcia Nathalie Lefort Céline Banal Marie-Thérèse Vasilache-Dangles Gaële Pitelet Elsa Lorino Nathalie Rabasse Eric Bieth Maha S. Zaki Meral Topcu Fatma Mujgan Sonmez Damir Musaev Valentina Stanley Christine Bole-Feysot Patrick Nitschké Arnold Munnich Nadia Bahi-Buisson Catherine Fossoud Fabienne Giuliano Laurence Colleaux Lydie Burglen Joseph G. Gleeson Nathalie Boddaert Adolfo Saiardi Vincent Cantagrel MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| description |
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism. |
| format |
article |
| author |
Ekin Ucuncu Karthyayani Rajamani Miranda S. C. Wilson Daniel Medina-Cano Nami Altin Pierre David Giulia Barcia Nathalie Lefort Céline Banal Marie-Thérèse Vasilache-Dangles Gaële Pitelet Elsa Lorino Nathalie Rabasse Eric Bieth Maha S. Zaki Meral Topcu Fatma Mujgan Sonmez Damir Musaev Valentina Stanley Christine Bole-Feysot Patrick Nitschké Arnold Munnich Nadia Bahi-Buisson Catherine Fossoud Fabienne Giuliano Laurence Colleaux Lydie Burglen Joseph G. Gleeson Nathalie Boddaert Adolfo Saiardi Vincent Cantagrel |
| author_facet |
Ekin Ucuncu Karthyayani Rajamani Miranda S. C. Wilson Daniel Medina-Cano Nami Altin Pierre David Giulia Barcia Nathalie Lefort Céline Banal Marie-Thérèse Vasilache-Dangles Gaële Pitelet Elsa Lorino Nathalie Rabasse Eric Bieth Maha S. Zaki Meral Topcu Fatma Mujgan Sonmez Damir Musaev Valentina Stanley Christine Bole-Feysot Patrick Nitschké Arnold Munnich Nadia Bahi-Buisson Catherine Fossoud Fabienne Giuliano Laurence Colleaux Lydie Burglen Joseph G. Gleeson Nathalie Boddaert Adolfo Saiardi Vincent Cantagrel |
| author_sort |
Ekin Ucuncu |
| title |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| title_short |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| title_full |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| title_fullStr |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| title_full_unstemmed |
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
| title_sort |
minpp1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in pontocerebellar hypoplasia |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196 |
| work_keys_str_mv |
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