A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity (Q33641802)

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English	A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

lactic acidosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Cristina Dallabona

object named as

Cristina Dallabona

3

0 references

Federica Invernizzi

object named as

Federica Invernizzi

1

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Claudia Donnini

object named as

Claudia Donnini

4

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object named as

Daniele Ghezzi

7

0 references

Massimo Zeviani

9

object named as

Massimo Zeviani

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Costanza Lamperti

8

object named as

Costanza Lamperti

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Marco Tigano

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ileana Ferrero

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Maurizio Cremonte

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

23 September 2013

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Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

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Europe PubMed Central

PubMed publication ID

28 July 2017

12

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Europe PubMed Central

PubMed publication ID

28 July 2017

1619-1622

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

Late-stage maturation of the Rieske Fe/S protein: Mzm1 stabilizes Rip1 but does not facilitate its translocation by the AAA ATPase Bcs1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

The LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

Mzm1 influences a labile pool of mitochondrial zinc important for respiratory function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

Isolation of the DLD gene of Saccharomyces cerevisiae encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

Protease maturation of the Rieske iron-sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028993

21 June 2018

In vivo analysis of mtDNA replication defects in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22441

21 January 2018

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22441

21 January 2018

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22441

21 January 2018

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22441

21 January 2018

Needle biopsy of skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/24014394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/24014394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1 reference

https://pubmed.ncbi.nlm.nih.gov/24014394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermediate length Rieske iron-sulfur protein is present and functionally active in the cytochrome bc1 complex of Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/24014394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22441

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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