(Q21144939)

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

scientific article

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (English)

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Anthony Sandler

13

object named as

Anthony Sandler

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Anthony

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Sandler

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PubMed publication ID

17 August 2022

Elena I Rugarli

object named as

Elena I Rugarli

18

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Elena I

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Rugarli

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17 August 2022

Craig Blackstone

17

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Craig

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Blackstone

object named as

Craig Blackstone

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17 August 2022

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Tyler Mark Pierson

1

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Tyler Mark

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Pierson

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17 August 2022

David Adams

2

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David

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Adams

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17 August 2022

Florian Bonn

3

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Florian

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Bonn

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17 August 2022

Paola Martinelli

4

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Paola

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Martinelli

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17 August 2022

Praveen F Cherukuri

5

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Praveen F

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Cherukuri

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17 August 2022

Jamie K Teer

6

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Jamie K

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Teer

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17 August 2022

Nancy F Hansen

7

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Nancy F

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Hansen

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17 August 2022

Pedro Cruz

8

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Pedro

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Cruz

1 reference

PubMed publication ID

17 August 2022

James C Mullikin For The Nisc Comparative Sequencing Program

9

author given names

James C

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Mullikin For The Nisc Comparative Sequencing Program

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PubMed publication ID

17 August 2022

Robert W Blakesley

10

author given names

Robert W

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Blakesley

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17 August 2022

Gretchen Golas

11

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Gretchen

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Golas

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17 August 2022

Justin Kwan

12

author given names

Justin

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Kwan

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17 August 2022

Karin Fuentes Fajardo

14

author given names

Karin

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Fuentes Fajardo

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17 August 2022

Thomas Markello

15

author given names

Thomas

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Markello

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17 August 2022

Cynthia Tifft

16

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Cynthia

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Tifft

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17 August 2022

Thomas Langer

19

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Thomas

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Langer

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17 August 2022

William A Gahl

20

author given names

William A

author last names

Gahl

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PubMed publication ID

17 August 2022

Camilo Toro

21

author given names

Camilo

author last names

Toro

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PubMed publication ID

17 August 2022

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publication date

October 2011

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7

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10

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e1002325

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copyright license

Creative Commons CC0 License

13 October 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

Exome sequencing identifies the cause of a mendelian disorder

1 reference

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19 March 2017

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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19 March 2017

Targeted capture and massively parallel sequencing of 12 human exomes

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CDD: specific functional annotation with the Conserved Domain Database

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19 March 2017

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

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19 March 2017

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein

1 reference

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19 March 2017

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

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19 March 2017

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study

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19 March 2017

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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19 March 2017

An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases

1 reference

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19 March 2017

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

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19 March 2017

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192828

19 March 2017

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 reference

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7 April 2017

Electron cryomicroscopy structure of a membrane-anchored mitochondrial AAA protease

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12 September 2017

Motor neurone disease: a practical update on diagnosis and management

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12 September 2017

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

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12 September 2017

A neurological perspective on mitochondrial disease.

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12 September 2017

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

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12 September 2017

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

1 reference

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12 September 2017

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

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Quality control of mitochondria: protection against neurodegeneration and ageing

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12 September 2017

Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases

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12 September 2017

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

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12 September 2017

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

1 reference

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30 May 2018

The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

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21 January 2018

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002325

21 January 2018

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002325

21 January 2018

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

1 reference

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21 January 2018

Unbalanced whole arm translocation resulting in loss of 18p in dystonia.

1 reference

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21 January 2018

m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria

1 reference

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21 January 2018

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.

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21 January 2018

Functional evaluation of paraplegin mutations by a yeast complementation assay

1 reference

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29 November 2018

Structural organization of mitochondrial ATP synthase

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1002325

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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ResearchGate publication ID

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