Mitochondrial fusion proteins and human diseases. (Q38115530)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23781337%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Mitochondrial fusion proteins and human diseases (English)

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3 March 2020

4

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3 March 2020

Federica Rizzo

5

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3 March 2020

Nereo Bresolin

6

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3 March 2020

Stefania Corti

7

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3 March 2020

Giacomo P Comi

8

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3 March 2020

author name string

Michela Ranieri

1

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3 March 2020

Simona Brajkovic

2

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3 March 2020

Giulietta Riboldi

3

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3 March 2020

publication date

27 May 2013

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Neurology Research International

3 March 2020

published in

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3 March 2020

volume

2013

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3 March 2020

page(s)

293893

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Creative Commons Attribution 3.0 Unported

3 March 2020

copyright license

start time

1 January 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

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MiD49 and MiD51, new components of the mitochondrial fission machinery

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Sequential requirements for the GTPase domain of the mitofusin Fzo1 and the ubiquitin ligase SCFMdm30 in mitochondrial outer membrane fusion

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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

6 September 2017

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OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.

6 September 2017

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6 September 2017

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Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations

6 September 2017

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Mitochondrial DNA polymerase-gamma and human disease

6 September 2017

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Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

6 September 2017

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OPA1 requires mitofusin 1 to promote mitochondrial fusion

6 September 2017

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

6 September 2017

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Dysregulation of HSG triggers vascular proliferative disorders

6 September 2017

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

6 September 2017

1 reference

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[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disea

6 September 2017

1 reference

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Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families

6 September 2017

1 reference

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Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

PAMP and PARL, two novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

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

6 September 2017

1 reference

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Leber hereditary optic neuropathy: clinical and molecular genetic findings

6 September 2017

1 reference

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6 September 2017

1 reference

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

6 September 2017

1 reference

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C. elegans dynamin-related protein DRP-1 controls severing of the mitochondrial outer membrane

6 September 2017

1 reference

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6 September 2017

1 reference

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The machinery of mitochondrial inheritance and behavior

6 September 2017

1 reference

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Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

6 September 2017

1 reference

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Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA

6 September 2017

1 reference

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Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Delayed increase of Ca2+ influx elicited by glutamate: role in neuronal death

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Disorders associated with depletion of mitochondrial DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Structural basis of mitochondrial tethering by mitofusin complexes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

The mitochondrial inner membrane GTPase, optic atrophy 1 (Opa1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial fusion intermediates revealed in vitro

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondria, calcium regulation, and acute glutamate excitotoxicity in cultured cerebellar granule cells

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Glutamate-induced calcium transient triggers delayed calcium overload and neurotoxicity in rat hippocampal neurons

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

MFN2 mutations cause compensatory mitochondrial DNA proliferation

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial fusion increases the mitochondrial DNA copy number in budding yeast

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial DNA mutations in disease and aging.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mitochondrial fusion in vitro

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

eOPA1: an online database for OPA1 mutations

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Hereditary motor and sensory neuropathy type VI with optic atrophy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Regulation of mitochondrial morphology by membrane potential, and DRP1-dependent division and FZO1-dependent fusion reaction in mammalian cells

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

Novel fluorescence membrane fusion assays reveal GTP-dependent fusogenic properties of outer mitochondrial membrane-derived proteins

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3678461

The clinical features of hereditary motor and sensory neuropathy types I and II

31 August 2018

1 reference

12 December 2020

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy

1 reference

12 December 2020

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

1 reference

12 December 2020

Recombination of mitochondrial drug-resistance factors in Saccharomyces, cerevisiae

1 reference

12 December 2020

Ugo1 and Mdm30 act sequentially during Fzo1-mediated mitochondrial outer membrane fusion

1 reference

12 December 2020

The many faces of Charcot-Marie-Tooth disease

1 reference

12 December 2020

RosettaRemodel: a generalized framework for flexible backbone protein design.

1 reference

9 October 2024

https://opencitations.net/index/api/v1/citations/10.1371/JOURNAL.PONE.0024109

Identifiers

DOI

10.1155/2013/293893

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23781337%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23781337%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

23781337

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23781337%20AND%20SRC:MED&resulttype=core&format=json