PMC Links for OMIM (Select 605084) - PMC

Select item 74344451.

Structures reveal gatekeeping of the mitochondrial Ca²⁺ uniporter by MICU1-MICU2

Chongyuan Wang, Agata Jacewicz, Bryce D Delgado, Rozbeh Baradaran, Stephen Barstow Long

eLife. 2020; 9: e59991. Published online 2020 Jul 15. doi: 10.7554/eLife.59991

PMCID:: PMC7434445

Select item 72036472.

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

Katelynn M. Wilton, Joel A. Morales‐Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine Nickels, Eric W. Klee, Mai‐Lan Ho, Eva Morava

JIMD Rep. 2020 May; 53(1): 22–28. Published online 2020 Mar 20. doi: 10.1002/jmd2.12114

PMCID:: PMC7203647

Abstract Article PDF–1.6M

Select item 70076913.

Dysregulation of Mitochondrial Ca²⁺ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1

Valentina Debattisti, Adam Horn, Raghavendra Singh, Erin L. Seifert, Marshall W. Hogarth, Davi A. Mazala, Kai Ting Huang, Rita Horvath, Jyoti K. Jaiswal, György Hajnóczky

Cell Rep. Author manuscript; available in PMC 2020 Feb 8.

Published in final edited form as: Cell Rep. 2019 Oct 29; 29(5): 1274–1286.e6. doi: 10.1016/j.celrep.2019.09.063

PMCID:: PMC7007691

Abstract Article PDF–1.4M

Select item 63230074.

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Zakkiriah Mohamed, Wafaa Ali AlShehhi, Vamsi K. Mootha, Jane Juusola, Tawfeg Ben-Omran

JIMD Rep. 2019; 43: 79–83. Published online 2018 May 3. doi: 10.1007/8904_2018_107

PMCID:: PMC6323007

Abstract Article PDF–159K

Select item 40916295.

EMRE is an essential component of the mitochondrial calcium uniporter complex

Yasemin Sancak, Andrew L. Markhard, Toshi Kitami, Erika Kovács-Bogdán, Kimberli J. Kamer, Namrata D. Udeshi, Steven A. Carr, Dipayan Chaudhuri, David E. Clapham, Andrew A. Li, Sarah E. Calvo, Olga Goldberger, Vamsi K. Mootha

Science. Author manuscript; available in PMC 2014 Jul 10.

Published in final edited form as: Science. 2013 Dec 13; 342(6164): 1379–1382. Published online 2013 Nov 14. doi: 10.1126/science.1242993

PMCID:: PMC4091629

Abstract Article PDF–711K

Select item 39896966.

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

Kimberli J Kamer, Vamsi K Mootha

EMBO Rep. 2014 Mar; 15(3): 299–307. Published online 2014 Feb 6. doi: 10.1002/embr.201337946

PMCID:: PMC3989696

Abstract Article PDF–1.2M

Select item 29779807.

MICU1 encodes a mitochondrial EF hand protein required for Ca²⁺ uptake

Fabiana Perocchi, Vishal M. Gohil, Hany S. Girgis, X. Robert Bao, Janet E. McCombs, Amy E. Palmer, Vamsi K. Mootha

Nature. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Nature. 2010 Sep 16; 467(7313): 291–296. Published online 2010 Aug 8. doi: 10.1038/nature09358

PMCID:: PMC2977980

Abstract Article PDF–1.5M

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