(Q36794081)

16 August 2017

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood (English)

1 reference

16 August 2017

1 reference

Denis Titov

6

0 references

Helen Griffin

Helen Griffin

3

0 references

Angela Pyle

8

Angela Pyle

1 reference

16 August 2017

12

Rita Horvath

1 reference

16 August 2017

10

Patrick Yu-Wai-Man

1 reference

16 August 2017

14

Patrick F Chinnery

1 reference

16 August 2017

Robert William Taylor

9

Robert W Taylor

1 reference

16 August 2017

7

Jennifer Duff

1 reference

16 August 2017

11

Venkateswaran Ramesh

1 reference

16 August 2017

1

David Lewis-Smith

1 reference

16 August 2017

13

Vamsi K Mootha

1 reference

16 August 2017

Anne Marie Clare Kelly

4

Anne-Marie Childs

1 reference

16 August 2017

5

Karen Pysden

1 reference

16 August 2017

Kimberli J Kamer

2

1 reference

16 August 2017

3 March 2016

1 reference

16 August 2017

1 reference

16 August 2017

2

1 reference

16 August 2017

2

1 reference

16 August 2017

e59

1 reference

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

MICU1 and MICU2 finely tune the mitochondrial Ca2+ uniporter by exerting opposite effects on MCU activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

MICU1 is an essential gatekeeper for MCU-mediated mitochondrial Ca(2+) uptake that regulates cell survival

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

Monitoring phosphorylation of the pyruvate dehydrogenase complex.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830195

10.1212/NXG.0000000000000059

5 September 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

27123478

1 reference