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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Annals of Neurology(2020)10.1002/ana.25723Source: DataRank Database

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy is a research paper published in Annals of Neurology (2020). On theSindex it has a DataRank of 0. It has been cited 53 times.

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Open Access53 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (21 grants)Impact (FWCI 2.17)OA: hybridTopics (78)Linked Datasets (2)DataCite Reuse (2)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

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Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

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Reusable (0/3)

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Authors (31)

Stefania Magri ORCID,Andrea Legati ORCID,Valentina Del Dotto ORCID,Francesca Tagliavini,Francesca Balistreri ORCID

Live enrichment

PubMed:32219868 PMC:PMC7383914 OpenAlex:https://openalex.org/W3013291180

Fondazione Telethon

Grant: GGP15041

Foundation for the National Institutes of Health

Grant: 5R01NS072248

Horizon 2020 Framework Programme

Grant: 779257 “Solve‐RD”

Ministero della Salute

Grant: GR‐2016‐02361449

Ministero della Salute

Grant: GR‐2016‐02363337

Ministero della Salute

Grant: RF‐2011‐02351165

Ministero della Salute

Grant: RF‐2018‐12367768

Telethon

Grant: GTB12001J

MRF_

Grant: MRF-155-0005-RG-ZEVI-C0784

Medical Research Council

Grant: 1606028

Medical Research Council

Grant: 1803693

Medical Research Council

Grant: MC_UP_1002/1

Medical Research Council

Grant: MC_UU_00015/5

NINDS NIH HHS

Grant: R01 NS072248

Telethon

Grant: GTB18001

MRF_

Grant: MRF-155-0002-RG-ZEVIA

Medical Research Council

Grant: MC_EX_MR/P007031/1

MRF_

Grant: MRF-155-0001-S-MARTI

European Commission

Grant: 779257

Solving the unsolved Rare Diseases

National Institutes of Health

Grant: 5R01NS072248-12

Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome

Fondazione Pierfranco e Luisa Mariani

FWCI

2.17

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25723

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25723

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.25723

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25723

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ana.25723

Fields of Study

Mitochondrial Function and PathologyGenetic Neurodegenerative DiseasesHereditary Neurological Disorders0301 basic medicine03 medical and health sciences0303 health sciencesATP-Dependent ProteasesATPases Associated with Diverse Cellular ActivitiesAdolescentAdultAgedChildFemaleGTP PhosphohydrolasesGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationOptic AtrophyOptic Nerve DiseasesPedigreeExome SequencingYoung Adult

MeSH Terms

Exome SequencingATPases Associated with Diverse Cellular ActivitiesAdolescentAdultAgedChildFemaleGenetic TestingHumansMaleMiddle AgedMutationOptic AtrophyOptic Nerve DiseasesPedigreeGTP PhosphohydrolasesATP-Dependent ProteasesYoung AdultHigh-Throughput Nucleotide Sequencing

Keywords

BiologyGeneticsMutationMissense mutationProbandExome sequencingSpinocerebellar ataxiaGeneAdultMaleATPases Associated with Diverse Cellular Activities: geneticsAdolescentATP-Dependent Proteases: geneticsOptic Nerve Diseases: geneticsATP-Dependent Proteases; ATPases Associated with Diverse Cellular Activities; Adolescent; Adult; Aged; Child; Female; GTP Phosphohydrolases; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Mutation; Optic Atrophy; Optic Nerve Diseases; Pedigree; Whole Exome Sequencing; Young AdultGTP PhosphohydrolasesYoung AdultATP-Dependent ProteasesOptic Nerve DiseasesGTP Phosphohydrolases: geneticsHumansGenetic TestingChildResearch Articlesinfo:eu-repo/classification/ddc/610AgedOptic Atrophy: geneticsAFG3L2;OPA1;DOA;optic neuropathy; SCA28High-Throughput Nucleotide SequencingMiddle AgedPedigreeOptic AtrophyATPases Associated with Diverse Cellular ActivitiesFemale

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being

Data related to article "ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy"

10.5281/zenodo.4651162Zenodo

Data related to article "ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy"

10.5281/zenodo.4651163Zenodo

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

FAIR Checklist

Authors (31)

Funding (21 grants)

Impact

Open Access

Topics

Linked Datasets (2)

Annotations (Europe PMC)