An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
26 May 2024
Historique:
received: 17 04 2024
revised: 15 05 2024
accepted: 20 05 2024
medline: 19 6 2024
pubmed: 19 6 2024
entrez: 19 6 2024
Statut: epublish

Résumé

Friedreich's Ataxia (FRDA) stands out as the most prevalent form of hereditary ataxias, marked by progressive movement ataxia, loss of vibratory sensitivity, and skeletal deformities, severely affecting daily functioning. To date, the only medication available for treating FRDA is Omaveloxolone (Skyclarys

Identifiants

pubmed: 38891993
pii: ijms25115796
doi: 10.3390/ijms25115796
pii:
doi:

Substances chimiques

Frataxin 0
Iron-Binding Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Coordenação de Aperfeicoamento de Pessoal de Nível Superior
ID : N/A
Organisme : Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro
ID : N/A
Organisme : Financiadora de Estudos e Projetos
ID : N/A
Organisme : National Council for Scientific and Technological Development
ID : N/A
Organisme : Universidade Federal do Estado do Rio de Janeiro
ID : N/A
Organisme : Universidade Federal do Rio de Janeiro
ID : N/A
Organisme : Nvidia (United States)
ID : N/A
Organisme : Oracle (United States)
ID : N/A

Auteurs

Loiane Mendonça Abrantes Da Conceição (LMA)

Laboratory of Bioinformatics and Computational Biology, Federal University of the State of Rio de Janeiro (UNIRIO), Avenida Pasteur, 296, Urca, Rio de Janeiro 22290-250, Brazil.

Lucio Mendes Cabral (LM)

Pharmaceutical Industrial Technology Laboratory, Federal University of Rio de Janeiro (UFRJ), Avenida Carlos Chagas Filho, 373, Cidade Universitária, Rio de Janeiro 21941-590, Brazil.

Gabriel Rodrigues Coutinho Pereira (GRC)

Pharmaceutical Industrial Technology Laboratory, Federal University of Rio de Janeiro (UFRJ), Avenida Carlos Chagas Filho, 373, Cidade Universitária, Rio de Janeiro 21941-590, Brazil.
Laboratory of Molecular Modeling & QSAR, Federal University of Rio de Janeiro (UFRJ), Avenida Carlos Chagas Filho, 373, Cidade Universitária, Rio de Janeiro 21941-590, Brazil.

Joelma Freire De Mesquita (JF)

Laboratory of Bioinformatics and Computational Biology, Federal University of the State of Rio de Janeiro (UNIRIO), Avenida Pasteur, 296, Urca, Rio de Janeiro 22290-250, Brazil.

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Classifications MeSH