RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement (Q24315651)

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Language	Label	Description	Also known as
English	RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement	scientific article

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instance of

scholarly article

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title

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement (English)

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main subject

Required for meiotic nuclear division 1 homolog

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stated in

GOA release 2020-03-11

positive regulation of mitochondrial translation

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stated in

GOA release 2020-03-11

lactic acidosis

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based on heuristic

inferred from title

deafness

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based on heuristic

inferred from title

author

Casper Shyr

series ordinal

6

object named as

Casper Shyr

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Hana Antonicka

object named as

Hana Antonicka

series ordinal

4

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Janis M Dionne

object named as

Janis Dionne

series ordinal

11

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Hilary Vallance

object named as

Hilary Vallance

series ordinal

10

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Colin J. Ross

object named as

Colin J Ross

series ordinal

9

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Wyeth Wasserman

object named as

Wyeth W Wasserman

series ordinal

12

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author name string

Alexandre Janer

series ordinal

1

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Clara Dm van Karnebeek

series ordinal

2

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Florin Sasarman

series ordinal

3

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Malak Al Ghamdi

series ordinal

5

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Casper Shyr

series ordinal

6

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Mary Dunbar

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7

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Sylvia Stockler-Ispiroglu

series ordinal

8

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Eric A Shoubridge

series ordinal

13

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language of work or name

English

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publication date

October 2015

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published in

European Journal of Human Genetics

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volume

23

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issue

10

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page(s)

1301-7

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cites work

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

1 reference

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PubMed Central

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19 March 2017

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

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PubMed Central

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retrieved

19 March 2017

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592087

retrieved

19 March 2017

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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PubMed Central

reference URL

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19 March 2017

Making proteins in the powerhouse

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PubMed Central

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27 September 2017

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource

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PubMed Central

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27 September 2017

Mitochondrial dysfunction in the pathophysiology of renal diseases

1 reference

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PubMed Central

reference URL

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27 September 2017

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression

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PubMed Central

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27 September 2017

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

1 reference

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PubMed Central

reference URL

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retrieved

27 September 2017

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

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PubMed Central

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27 September 2017

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

1 reference

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PubMed Central

reference URL

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27 September 2017

Acute infantile liver failure due to mutations in the TRMU gene.

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PubMed Central

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27 September 2017

Structure of the Mammalian Mitochondrial Ribosome Reveals an Expanded Functional Role for Its Component Proteins

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PubMed Central

reference URL

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retrieved

30 May 2018

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2014.293

retrieved

21 January 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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stated in

Crossref

reference URL

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21 January 2018

Radioactive labeling of mitochondrial translation products in cultured cells

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stated in

Crossref

reference URL

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retrieved

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.293

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4357433

Dimensions Publication ID

1043175465

0 references

OpenCitations bibliographic resource ID

4357433

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4357433

PMC publication ID

4592087

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4357433

PubMed publication ID

25604853

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4357433

ResearchGate publication ID

271334507

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