Novel insights into SLC25A46-related pathologies in a genetic mouse model (Q36334004)

13 August 2017

Novel insights into SLC25A46-related pathologies in a genetic mouse model (English)

1 reference

Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5

13 August 2017

1 reference

Inner membrane protein, mitochondrial

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cytochrome c oxidase subunit 4I1

1 reference

Heat shock protein 9

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Pyruvate dehydrogenase E1 alpha 1

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Prohibitin

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Solute carrier family 25, member 46

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Translocase of outer mitochondrial membrane 40

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

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4 June 2020

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4 June 2020

author name string

Maria Eirini Terzenidou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Aikaterini Segklia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Toshimi Kano

1 reference

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4 June 2020

Florentia Papastefanaki

1 reference

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4 June 2020

Alexandros Karakostas

1 reference

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4 June 2020

Fotis Ioakeimidis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Maria Papadaki

1 reference

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4 June 2020

Ismini Kloukina

1 reference

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4 June 2020

Margarita Chrysanthou-Piterou

1 reference

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4 June 2020

George Panayotou

1 reference

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4 June 2020

Rebecca Matsas

1 reference

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4 June 2020

publication date

4 April 2017

1 reference

13 August 2017

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4 June 2020

volume

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4 June 2020

issue

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4 June 2020

page(s)

e1006656

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Creative Commons Attribution 4.0 International

4 June 2020

start time

4 April 2017

1 reference

April 2022 Public Data File from Crossref

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5380310/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

30 September 2017

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Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

30 September 2017

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Requirement for Bhlhb5 in the specification of amacrine and cone bipolar subtypes in mouse retina

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Choline: critical role during fetal development and dietary requirements in adults

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The conserved substrate binding site of mitochondrial carriers

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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22 September 2018

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22 September 2018

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22 September 2018

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Genetic engineering in the mouse: tuning TNF/TNFR expression

22 September 2018

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Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

22 September 2018

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A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

22 September 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006656

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

21 January 2018

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12 December 2020

Pervasive synaptic branch removal in the mammalian neuromuscular system at birth

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12 December 2020

Novel genetic models of osteoporosis by overexpression of human RANKL in transgenic mice

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12 December 2020

From plaque to pretzel: fold formation and acetylcholine receptor loss at the developing neuromuscular junction

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12 December 2020

10.1371/JOURNAL.PGEN.1006656

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

28376086

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28376086%20AND%20SRC:MED&resulttype=core&format=json