(Q24321305)

mitochondrial encephalomyopathy

GOA release 2020-03-11

mitochondrion

1 reference

based on heuristic

inferred from title

1 reference

34

0 references

Holger Prokisch

37

0 references

Massimo Zeviani

40

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Costanza Lamperti

29

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Daniele Ghezzi

2

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Martina Huemer

Martina Huemer

32

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Rossella Parini

Rossella Parini

28

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Eric A Pierce

Eric A Pierce

33

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Johannes A Mayr

Johannes A Mayr

30

0 references

Mustafa A. Salih

Mustafa A Salih

23

0 references

Marni Falk

Marni J Falk

39

0 references

Fowzan S Alkuraya

38

Fowzan S Alkuraya

0 references

Tobias B Haack

6

Tobias B Haack

0 references

Thomas Wieland

13

Thomas Wieland

0 references

Tim M Strom

14

Tim M Strom

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Matteo Gorza

11

Matteo Gorza

0 references

Lee-Jun C Wong

21

Vassiliki Konstantopoulou

Lee-Jun Wong

0 references

31

Vassiliki Konstantopoulou

0 references

Peter Freisinger

35

Peter Freisinger

0 references

Wolfgang Sperl

36

Wolfgang Sperl

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author name string

Xiaowu Gai

1

0 references

Mark A Johnson

3

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Caroline A Biagosch

4

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Hanan E Shamseldin

5

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Aurelio Reyes

7

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Mai Tsukikawa

8

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Claire A Sheldon

9

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Satish Srinivasan

10

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Laura S Kremer

12

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Erzsebet Polyak

15

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Emily Place

16

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Mark Consugar

17

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Julian Ostrovsky

18

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Sara Vidoni

19

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Alan J Robinson

20

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Neal Sondheimer

22

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Emtethal Al-Jishi

24

0 references

Christopher P Raab

25

0 references

Charles Bean

26

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Francesca Furlan

American Journal of Human Genetics

27

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language of work or name

English

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publication date

5 September 2013

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published in

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volume

93

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issue

3

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page(s)

482-95

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describes a project that uses

PyMOL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=PMC3769923

cites work

NMNAT1 mutations cause Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

A mitochondrial protein compendium elucidates complex I disease biology

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Insights into SCF ubiquitin ligases from the structure of the Skp1-Skp2 complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

SCFFBXL3 ubiquitin ligase targets cryptochromes at their cofactor pocket

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Comparative protein modelling by satisfaction of spatial restraints

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Skp1p and the F-box protein Rcy1p form a non-SCF complex involved in recycling of the SNARE Snc1p in yeast

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Function and regulation of cullin-RING ubiquitin ligases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Quantitative evaluation of the mitochondrial DNA depletion syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

A hitchhiker's guide to the cullin ubiquitin ligases: SCF and its kin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Molecular genetic testing for mitochondrial disease: from one generation to the next

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Application of next generation sequencing to molecular diagnosis of inherited diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Actin and myosin contribute to mammalian mitochondrial DNA maintenance.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial quality control

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

The human SIRT3 protein deacetylase is exclusively mitochondrial

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

The mitochondrial proteome database: MitoP2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Clinical and molecular findings in children with complex I deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769923

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23993194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.07.016

1 reference

1 reference

1 reference

PubMed publication ID

23993194

1 reference