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Article

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

Brain : a journal of neurology - 1 Nov 2017

Shamseldin Hanan E, Alasmari Ali, Salih Mohammed A, Samman Manar M, Mian Shahid A, Alshidi Tarfa, Ibrahim Niema, Hashem Mais, Faqeih Eissa, Al-Mohanna Futwan, Alkuraya Fowzan S

Abstract excerpt

Mitochondrial calcium homeostasis is a tightly controlled process that is required for a variety of cellular functions. The mitochondrial calcium uniporter complex plays a critical role in this process. MICU2 is a major component of the mitochondrial calcium uniporter complex and its deficiency has been shown to impair mitochondrial calcium [Ca2+]m homeostasis although the exact mechanism remains unclear. We used...

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Source

Identifiers

PMID: 29053821
DOI: 10.1093/brain/awx237

Genes

MICU2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.PMID 29053821Read ↗

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

Molecular pathophysiology of human MICU1 deficiencySemantic proximity Read ↗

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Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhoodSemantic proximity Read ↗

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.Semantic proximity Read ↗

Encoding of the colorectal cancer metabolic program through MICU2Semantic proximity Read ↗

Functional specialization of Ca2+-binding motifs in human MICU1.Semantic proximity Read ↗

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Mitochondrial Ca <sup>2+</sup> uniporter (MCU) variants form plasma-membrane channelsSemantic proximity Read ↗

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Pathological consequences of MICU1 mutations on mitochondrial calcium signalling and bioenergetics.Semantic proximity Read ↗

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