MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S C, Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S, Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G, Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent
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Published in Nature communications (30.11.2020)
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Published in American journal of human genetics (13.01.2012)
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Published in The lancet child & adolescent health (01.01.2022)
Published in The lancet child & adolescent health (01.01.2022)
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Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Birk Møller, Lisbeth, Kaler, Stephen G., Gärtner, Jutta
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda Sc, Medina-Cano, Daniel, Altin, Nami, Pierre, David, Barcia, Giulia, Lefort, Nathalie, Vasilache-Dangles, Marie-Therese, Pitelet, Gaele, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S, Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschke, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G, Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent
Published in bioRxiv (17.05.2020)
Published in bioRxiv (17.05.2020)
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