Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Logan, Clare V.; Sharpe, Jenny A.; Parry, David A.; Johnson, Colin A.; Roberts, Nicola Y.; Bonthron, David T.; Pysden, Karen A.; Abdelhamed, Zakia A.; Morgan, Joanne E.; Santen, Gijs W.E.; Niks, Erik H.; Den Dunnen, Johan T.; Sewry, Caroline A.; Duchen, Michael R.; Logan, Clare V; Sharpe, Jenny A; Parry, David A; Johnson, Colin A; Roberts, Nicola Y; Bonthron, David T; Pysden, Karen A; Szabadkai, Gy�rgy; Torelli, Silvia; Abdelhamed, Zakia A; Childs, Anne Marie; Morgan, Joanne E; Kriek, Marjolein; Phadke, Rahul; Santen, Gijs W E; Niks, Erik H; Whyte, Tamieka; Munteanu, Iulia; den Dunnen, Johan T; Foley, A. Reghan; Wheway, Gabrielle; Szymanska, Katarzyna; Sewry, Caroline A; Natarajan, Subaashini; Duchen, Michael R; Roper, Helen; Van Der Pol, W. Ludo; Lindhout, Dick; Raffaello, Anna; De Stefani, Diego; Sun, Yu; Ginjaar, Ieke; Hurles, Matthew; Rizzuto, Rosario; Muntoni, Francesco; Sheridan, Eamonn

doi:10.1038/ng.2851

All Outputs (2)

Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis (2014)
Journal Article

© 2014. Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmingpg6/gpg6, AtminH210Q/H210Q and Dynll1GT/GT, revealing how ATM... Read More about Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (2014)
Journal Article

Mitochondrial Ca 2+ uptake has key roles in cell life and death. Physiological Ca 2+ signaling regulates aerobic metabolism, whereas pathological Ca 2+ overload triggers cell death. Mitochondrial Ca 2+ uptake is mediated by the Ca 2+ uniporter comple... Read More about Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.