Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Autor: Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy

Publikováno v: Frontiers in Genetics, Vol 10 (2020)

Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr

Externí odkaz: https://doaj.org/article/3d23431fa04641679dcfda334d4bd917

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Autor: Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C, Bayona-Bafaluy MP

Publikováno v: Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::692be2da85e536e9aa064f9af74e51dd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17275

A mitochondrial SCF‐FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease.

Autor: Cao, Yu, Zheng, Jing, Wan, Huayun, Sun, Yuqiu, Fu, Song, Liu, Shanshan, He, Baiyu, Cai, Gaihong, Cao, Yang, Huang, Huanwei, Li, Qi, Ma, Yan, Chen, She, Wang, Fengchao, Jiang, Hui

Publikováno v: EMBO Journal; 7/3/2023, Vol. 42 Issue 13, p1-20, 20p

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4Variant

Autor: Oncul, Ummuhan, Kose, Engin, Eminoglu, Fatma Tuba

Publikováno v: Molecular Syndromology; August 2021, Vol. 12 Issue: 5 p294-299, 6p

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Autor: Rami A. Ballout, Chadi Al Alam, Penelope E. Bonnen, Martina Huemer, Ayman W. El-Hattab, Rolla Shbarou

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion s

Externí odkaz: https://doaj.org/article/9199c98967594f35a7dee5102f2c2a38