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Page 1
[Analysis of 6 cases with hepatocerebral mitochondrial DNA depletion syndrome and literature review].
Zhao MX, Wang JS, Gong JY. Zhao MX, et al. Zhonghua Er Ke Za Zhi. 2022 May 2;60(5):457-461. doi: 10.3760/cma.j.cn112140-20210827-00711. Zhonghua Er Ke Za Zhi. 2022. PMID: 35488641 Review. Chinese.
Objective: To explore the clinical features of hepatocerebral mitochondrial DNA depletion syndrome (MDS). Methods: The clinical data of 6 hepatocerebral MDS patients diagnosed in the Jinshan Hospital of Fudan University from January 2012 to December 20 …
Objective: To explore the clinical features of hepatocerebral mitochondrial DNA depletion syndrome (MDS). Method …
Human mitochondrial DNA replication machinery and disease.
Young MJ, Copeland WC. Young MJ, et al. Curr Opin Genet Dev. 2016 Jun;38:52-62. doi: 10.1016/j.gde.2016.03.005. Epub 2016 Apr 9. Curr Opin Genet Dev. 2016. PMID: 27065468 Free PMC article. Review.
The human mitochondrial genome is replicated by DNA polymerase gamma in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or de …
The human mitochondrial genome is replicated by DNA polymerase gamma in concert with key components of the mitochondrial …
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.
Löllgen S, Weiher H. Löllgen S, et al. Biol Chem. 2015 Jan;396(1):13-25. doi: 10.1515/hsz-2014-0198. Biol Chem. 2015. PMID: 25205723 Free article. Review.
Mitochondrial DNA depletion syndromes (MDDS) are severe pediatric diseases with diverse clinical manifestations. Gene mutations that underlie MDDS have been associated with alterations in the mitochondrial DNA (mtDNA) replication machiner …
Mitochondrial DNA depletion syndromes (MDDS) are severe pediatric diseases with diverse clinical manifestations. …
[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. ...MRI showed brain atrophy-like and bilateral basal gan …
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion …
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesions are prevalent in MERRF, MELAS, Alpers and Leigh syndromes. White matter involvement is always seen in Kearns-Sayre syndrome …
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesion …
Mouse models for mitochondrial disease.
Wallace DC. Wallace DC. Am J Med Genet. 2001 Spring;106(1):71-93. doi: 10.1002/ajmg.1393. Am J Med Genet. 2001. PMID: 11579427 Review.
Mutations in mitochondrial genes encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) genes have been implicated in a wide range of neuromuscular diseases. MtDNA base substitution and rearrangement mutations generally inactivate one or more …
Mutations in mitochondrial genes encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) genes have bee …
Role of mitochondrial DNA replication during differentiation of reprogrammed stem cells.
Kelly RD, St John JC. Kelly RD, et al. Int J Dev Biol. 2010;54(11-12):1659-70. doi: 10.1387/ijdb.103202rk. Int J Dev Biol. 2010. PMID: 21404186 Free article. Review.
Mitochondrial DNA (mtDNA) is a 16.6 kb genome that encodes for 13 of the 100+ subunits of the electron transfer chain (ETC), whilst the other subunits are encoded by chromosomal DNA. ...The outcomes would be similar to the severely debilitating or even …
Mitochondrial DNA (mtDNA) is a 16.6 kb genome that encodes for 13 of the 100+ subunits of the electron transfer chain ( …
[Mitochondrial disease and mitochondrial DNA depletion syndromes].
Huang CC, Hsu CH. Huang CC, et al. Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Acta Neurol Taiwan. 2009. PMID: 20329599 Review. Chinese.
Human mitochondrial DNA (mtDNA) encoding for 22 tRNAs, 2 rRNAs and 13 mRNAs that are translated in the mitochondria. Mitochondrial genetic diseases are most resulted from defects in the mtDNA which may be point mutations, deletions, or mitochondrial …
Human mitochondrial DNA (mtDNA) encoding for 22 tRNAs, 2 rRNAs and 13 mRNAs that are translated in the mitochondria. …
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A. Matilainen S, et al. Eur J Hum Genet. 2015 Mar;23(3):325-30. doi: 10.1038/ejhg.2014.128. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986829 Free PMC article. Review.
Mutations in SUCLA2, encoding the ss-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA depletion syndrome. Patients have been reported to have severe progressive childhood-onset encephalomyopathy, and methylmalonic a …
Mutations in SUCLA2, encoding the ss-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA …
[Inherited and acquired disorders of mitochondrial DNA].
Walker UA. Walker UA. Praxis (Bern 1994). 2002 Dec 4;91(49):2129-38. doi: 10.1024/0369-8394.91.49.2129. Praxis (Bern 1994). 2002. PMID: 12523180 Review. German.
Human mitochondrial DNA (mtDNA) resides in thousands of copies in each cell and encodes for 13 structural proteins which are subunits of the respiratory chain. ...The internist encounters predominantly myopathies, cardiomyopathies, lactic acidosis or diabetes …
Human mitochondrial DNA (mtDNA) resides in thousands of copies in each cell and encodes for 13 structural proteins whic …