Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder (Q28117097)

4 January 2017

title

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

1 reference

Solute carrier family 25 member 46

4 January 2017

main subject

1 reference

mitochondrial membrane fission

GOA release 2020-03-11

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Solute carrier family 25 member 46

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

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14 June 2020

Leonardo Caporali

15

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Chiara La Morgia

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Alessandra Maresca

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Rocco Liguori

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Taosheng Huang

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author name string

Adriana Rebelo

3

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Claudia Zanna

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Neville Patel

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Saskia Groenewald

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Feifei Tao

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Fiorella Speziani

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Lisa Abreu

13

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Xinjian Wang

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Yanyan Peng

24

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Anthony Antonellis

28

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Yaping Yang

31

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Jeffery Prince

33

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Flavia Fontanesi

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Antonio Barrientos

35

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Alexander J Abrams

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Michael A Gonzalez

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Ion J Campeanu

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Laurie B Griffin

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Alleene V Strickland

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Rebecca Schüle

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Zubair M Ahmed

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Kristen L Sund

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Laura A Krueger

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Cynthia A Prows

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Elizabeth K Schorry

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Holly H Zimmerman

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Susan M Downes

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Andrea H Németh

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Stephan Zuchner

39

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Julia E Dallman

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14 June 2020

language of work or name

English

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publication date

1 August 2015

1 reference

4 January 2017

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4 January 2017

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14 June 2020

volume

47

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14 June 2020

issue

8

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4 January 2017

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14 June 2020

page(s)

926-932

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

14 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Quantitation of mitochondrial dynamics by photolabeling of individual organelles shows that mitochondrial fusion is blocked during the Bax activation phase of apoptosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Ugo1p links the Fzo1p and Mgm1p GTPases for mitochondrial fusion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

The mitochondrial contact site complex, a determinant of mitochondrial architecture

20 March 2017

1 reference

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Cox25 Teams Up with Mss51, Ssc1, and Cox14 to Regulate Mitochondrial Cytochrome c Oxidase Subunit 1 Expression and Assembly in Saccharomyces cerevisiae

20 March 2017

1 reference

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Mitochondrial outer and inner membrane fusion requires a modified carrier protein

20 March 2017

1 reference

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UGO1 encodes an outer membrane protein required for mitochondrial fusion

20 March 2017

1 reference

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The mitochondrial transporter family SLC25: identification, properties and physiopathology

20 March 2017

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Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane

20 March 2017

1 reference

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Dissecting mitochondrial fusion

20 March 2017

1 reference

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MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population

20 March 2017

1 reference

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

20 March 2017

1 reference

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High-resolution in situ hybridization to whole-mount zebrafish embryos

7 April 2017

1 reference

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The Human Mitochondrial DEAD-Box Protein DDX28 Resides in RNA Granules and Functions in Mitoribosome Assembly

7 April 2017

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Analysis and interpretation of microplate-based oxygen consumption and pH data

29 September 2017

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Mechanisms of mitochondrial fission and fusion

29 September 2017

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Proteoglycan-mediated axon degeneration corrects pretarget topographic sorting errors.

29 September 2017

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Neurodegeneration: Trouble in the cell's powerhouse

29 September 2017

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Mitochondrial carrier homolog 2 (MTCH2): the recruitment and evolution of a mitochondrial carrier protein to a critical player in apoptosis

29 September 2017

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In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions

29 September 2017

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nkx2.2a promotes specification and differentiation of a myelinating subset of oligodendrocyte lineage cells in zebrafish

29 September 2017

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Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion

29 September 2017

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Inherited mitochondrial optic neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.

29 September 2017

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Emerging pathways for hereditary axonopathies

29 September 2017

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Fusion, fragmentation, and fission of mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Multiple partners can kiss-and-run: Bax transfers between multiple membranes and permeabilizes those primed by tBid

29 September 2017

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GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

2 June 2018

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Modulation of locomotor activity in larval zebrafish during light adaptation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Genetic epidemiology of Charcot-Marie-Tooth disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Mitochondrial accumulation in the distal part of the initial segment of chicken spinal motoneurons

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520737

Defensive Ink Pigment Processing and Secretion in Aplysia Californica: Concentration and Storage of Phycoerythrobilin in the Ink Gland

27 November 2018

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12 December 2020

Development and axonal outgrowth of identified motoneurons in the zebrafish

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12 December 2020

In vivo imaging of disease-related mitochondrial dynamics in a vertebrate model system

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12 December 2020

Ugo1p is a multipass transmembrane protein with a single carrier domain required for mitochondrial fusion

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3354

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26168012 AND SRC:MED&resulttype=core&format=json

14 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26168012 AND SRC:MED&resulttype=core&format=json

14 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26168012 AND SRC:MED&resulttype=core&format=json