(Q47249910)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

title

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

Solute carrier family 25, member 46

30 March 2020

main subject

1 reference

GOA release 2020-03-11

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Taosheng Huang

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

author name string

Zhuo Li

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Yanyan Peng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Robert B Hufnagel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Chuntao Zhao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Luis F Queme

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Zaza Khuchua

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Ashley M Driver

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Fei Dong

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Q Richard Lu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Diana M Lindquist

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Michael P Jankowski

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Rolf W Stottmann

13

1 reference

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30 March 2020

Winston W Y Kao

14

1 reference

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30 March 2020

publication date

1 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

issue

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

page(s)

3776-3791

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

30 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6074941/fullTextXML

inferred from PubMed Central ID database lookup

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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

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Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

26 August 2018

1 reference

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Mitochondrial fission protein Drp1 regulates mitochondrial transport and dendritic arborization in cerebellar Purkinje cells

26 August 2018

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

26 August 2018

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26 August 2018

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

26 August 2018

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The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype

26 August 2018

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Endogenous Drp1 mediates mitochondrial autophagy and protects the heart against energy stress

26 August 2018

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Renin-angiotensin system regulates neurodegeneration in a mouse model of normal tension glaucoma

26 August 2018

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A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

26 August 2018

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26 August 2018

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26 August 2018

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One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

26 August 2018

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Electron microscopic analysis of a spherical mitochondrial structure

26 August 2018

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Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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A lethal de novo mutation in the middle domain of the dynamin-related GTPase Drp1 impairs higher order assembly and mitochondrial division

26 August 2018

1 reference

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

1 reference

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Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A

26 August 2018

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Mitochondrial dynamics as a bridge between mitochondrial dysfunction and insulin resistance

26 August 2018

1 reference

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Mitochondrial fragmentation in neurodegeneration

26 August 2018

1 reference

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26 August 2018

1 reference

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Mitochondrial fusion protects against neurodegeneration in the cerebellum.

26 August 2018

1 reference

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A lethal defect of mitochondrial and peroxisomal fission

26 August 2018

1 reference

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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

26 August 2018

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Mitochondrial trafficking and morphology in healthy and injured neurons

26 August 2018

1 reference

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Evidence of toxicity, oxidative stress, and neuronal insult in autism

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Mitochondrial dynamics and disease, OPA1

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Disruption of fusion results in mitochondrial heterogeneity and dysfunction

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Role of oxidative stress in neurodegeneration: recent developments in assay methods for oxidative stress and nutraceutical antioxidants

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

PMP22 overexpression causes dysmyelination in mice.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Microarray analysis of novel cell lines representing two stages of metanephric mesenchyme differentiation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Dynamics of mitochondria in living cells: shape changes, dislocations, fusion, and fission of mitochondria

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6074941

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

26 August 2018

1 reference

12 December 2020

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

1 reference

12 December 2020

Axonal torpedoes in cerebellar Purkinje cells of two normal mouse strains during aging

1 reference

12 December 2020

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

1 reference

12 December 2020

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

1 reference

12 December 2020

Presence of foveal bulge in optical coherence tomographic images in eyes with macular edema associated with branch retinal vein occlusion

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDX262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28934388%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

PubMed publication ID

28934388

1 reference