A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. (Q30496256)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

Outer mitochondrial membrane lipid metabolism regulator OPA3

7 February 2020

main subject

1 reference

GOA release 2020-03-11

author

Harold A Burgess

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Benjamin Feldman

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Wuhong Pei

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Lisa E Kratz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Isa Bernardini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Raman Sood

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Tohei Yokogawa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Heidi Dorward

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Carla Ciccone

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Richard I Kelley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Yair Anikster

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Marjan Huizing

11

1 reference

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7 February 2020

language of work or name

English

0 references

publication date

1 August 2010

1 reference

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7 February 2020

number of pages

10

1 reference

based on heuristic

inferred from page(s)

published in

Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

137

1 reference

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7 February 2020

page(s)

2587-2596

1 reference

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7 February 2020

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

7 February 2020

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Costeff optic atrophy syndrome: new clinical case and novel molecular findings

20 June 2018

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A missense mutation in the murine Opa3 gene models human Costeff syndrome

20 June 2018

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3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

20 June 2018

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Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

20 June 2018

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7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

20 June 2018

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20 June 2018

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20 June 2018

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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

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20 June 2018

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20 June 2018

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PubMed

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12 December 2020

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Identifiers

DOI

10.1242/DEV.043745

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference