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Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes. ...The vast
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) mainten …
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular s …
Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy.
Campbell T, Slone J, Huang T. Campbell T, et al. Cells. 2022 Sep 11;11(18):2835. doi: 10.3390/cells11182835. Cells. 2022. PMID: 36139411 Free PMC article. Review.
Mitochondrial cardiomyopathy can be isolated or part of a syndromic mitochondrial disease. ...The underlying pathophysiology of mitochondrial cardiomyopathy is complex and likely involves multiple abnormal processes in the cell, stemming from deficient
Mitochondrial cardiomyopathy can be isolated or part of a syndromic mitochondrial disease. ...The underlying pathophysi
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Liu Z, Fang F, Ding C, Wu H, Lyu J, Wu Y. Liu Z, et al. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):817-21. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582465 Review. Chinese.
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome (MDS) in one patient, and review the latest clinical research reports. ...By Next-Generation Sequencing (NGS), we identified a …
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. Gilea AI, et al. Genes (Basel). 2021 Nov 24;12(12):1866. doi: 10.3390/genes12121866. Genes (Basel). 2021. PMID: 34946817 Free PMC article. Review.
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respiratory chain complexes are mitochondrially encoded. ...We then report the contribution that yeast has given in understanding the pathogenic mecha
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respirator
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.
Neagu AC, Budișteanu M, Gheorghe DC, Mocanu AI, Mocanu H. Neagu AC, et al. Medicina (Kaunas). 2022 Sep 9;58(9):1252. doi: 10.3390/medicina58091252. Medicina (Kaunas). 2022. PMID: 36143929 Free PMC article. Review.
An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, …
An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to …