|
1
|
Yu-Wai-Man P, Turnbull DM and Chinnery PF:
Leber hereditary optic neuropathy. J Med Genet. 39:162–169. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Carelli V, Rugolo M, Sgarbi G, Ghelli A,
Zanna C, Baracca A, Lenaz G, Napoli E, Martinuzzi A and Solaini G:
Bioenergetics shapes cellular death pathways in Leber's hereditary
optic neuropathy: A model of mitochondrial neurodegeneration.
Biochim Biophys Acta. 1658:172–179. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Puomila A, Hämäläinen P, Kivioja S,
Savontaus ML, Koivumäki S, Huoponen K and Nikoskelainen E:
Epidemiology and penetrance of Leber hereditary optic neuropathy in
Finland. Eur J Hum Genet. 15:1079–1089. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Yu-Wai-Man P, Griffiths PG, Brown DT,
Howell N, Turnbull DM and Chinnery PF: The epidemiology of Leber
hereditary optic neuropathy in the North East of England. Am J Hum
Genet. 72:333–339. 2003. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Yu-Wai-Man P, Griffiths PG and Chinnery
PF: Mitochondrial optic neuropathies-disease mechanisms and
therapeutic strategies. Prog Retin Eye Res. 30:81–114. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Jia X, Li S, Xiao X, Guo X and Zhang Q:
Molecular epidemiology of mtDNA mutations in 903 Chinese families
suspected with Leber hereditary optic neuropathy. J Hum Genet.
51:851–856. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Fraser JA, Biousse V and Newman NJ: The
neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol.
55:299–334. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Mackey DA, Oostra RJ, Rosenberg T,
Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G,
Bolhuis PA and Norby S: Primary pathogenic mtDNA mutations in
multigeneration pedigrees with Leber hereditary optic neuropathy.
Am J Hum Genet. 59:481–485. 1996.PubMed/NCBI
|
|
9
|
Catarino CB, Ahting U, Gusic M, Iuso A,
Repp B, Peters K, Biskup S, von Livonius B, Prokisch H and
Klopstock T: Characterization of a Leber's hereditary optic
neuropathy (LHON) family harboring two primary LHON mutations
m.11778G>A and m.14484T>C of the mitochondrial DNA.
Mitochondrion. 36:15–20. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Yu D, Jia X, Zhang AM, Guo X, Zhang YP,
Zhang Q and Yao YG: Molecular characterization of six Chinese
families with m.3460G>A and Leber hereditary optic neuropathy.
Neurogenetics. 11:349–356. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Asanad S, Meer E, Tian JJ, Fantini M,
Nassisi M and Sadun AA: Leber's hereditary optic neuropathy: Severe
vascular pathology in a severe primary mutation. Intractable Rare
Dis Res. 8:52–55. 2019. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Liang M, Jiang P, Li F, Zhang J, Ji Y, He
Y, Xu M, Zhu J, Meng X, Zhao F, et al: Frequency and spectrum of
mitochondrial ND6 mutations in 1218 Han Chinese subjects with
leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci.
55:1321–1331. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu
H, Zhao F, Ji Y, Liu X, Zhang M, et al: Prevalence of mitochondrial
ND4 mutations in 1281 Han Chinese subjects with leber's hereditary
optic neuropathy. Invest Ophthalmol Vis Sci. 56:4778–4788. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Rieder MJ, Taylor SL, Tobe VO and
Nickerson DA: Automating the identification of DNA variations using
quality-based fluorescence re-sequencing: Analysis of the human
mitochondrial genome. Nucleic Acids Res. 26:967–973. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Andrews RM, Kubacka I, Chinnery PF,
Lightowlers RN, Turnbull DM and Howell N: Reanalysis and revision
of the Cambridge reference sequence for human mitochondrial DNA.
Nat Genet. 23:1471999. View
Article : Google Scholar : PubMed/NCBI
|
|
16
|
Ruiz-Pesini E and Wallace DC: Evidence for
adaptive selection acting on the tRNA and rRNA genes of human
mitochondrial DNA. Hum Mutat. 27:1072–1081. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Ding Y, Xia BH, Zhang CJ and Zhuo GC:
Mitochondrial tRNALeu(UUR) C3275T, tRNAGln
T4363C and tRNALys A8343G mutations may be associated
with PCOS and metabolic syndrome. Gene. 642:299–306. 2018.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Yarham JW, Al-Dosary M, Blakely EL, Alston
CL, Taylor RW, Elson JL and McFarland R: A comparative analysis
approach to determining the pathogenicity of mitochondrial tRNA
mutations. Hum Mutat. 32:1319–1325. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Kong QP, Bandelt HJ, Sun C, Yao YG, Salas
A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, et al: Updating the
East Asian mtDNA phylogeny: A prerequisite for the identification
of pathogenic mutations. Hum Mol Genet. 15:2076–2086. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Bibb MJ, Van Etten RA, Wright CT, Walberg
MW and Clayton DA: Sequence and gene organization of mouse
mitochondrial DNA. Cell. 26:167–180. 1981. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Gadaleta G, Pepe G, De Candia G,
Quagliariello C, Sbisa E and Saccone C: The complete nucleotide
sequence of the rattus norvegicus mitochondrial genome: Cryptic
signals revealed by comparative analysis between vertebrates. J Mol
Evol. 28:497–516. 1989. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Roe BA, Ma DP, Wilson RK and Wong JF: The
complete nucleotide sequence of the xenopus laevis mitochondrial
genome. J Biol Chem. 260:9759–9774. 1985.PubMed/NCBI
|
|
23
|
Qu J, Li R, Zhou X, Tong Y, Lu F, Qian Y,
Hu Y, Mo JQ, West CE and Guan MX: The novel A4435G mutation in the
mitochondrial tRNAMet may modulate the phenotypic expression of the
LHON-associated ND4 G11778A mutation. Invest Ophthalmol Vis Sci.
47:475–483. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y,
Lu F, Mo JQ, West CE and Guan MX: The mitochondrial tRNA(Thr)
A15951G mutation may influence the phenotypic expression of the
LHON-associated ND4 G11778A mutation in a Chinese family. Gene.
376:79–86. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Zhang M, Zhou X, Li C, Zhao F, Zhang J,
Yuan M, Sun YH, Wang J, Tong Y, Liang M, et al: Mitochondrial
haplogroup M9a specific variant ND1 T3394C may have a modifying
role in the phenotypic expression of the LHON-associated ND4
G11778A mutation. Mol Genet Metab. 101:192–199. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Qu J, Li R, Zhou X, Tong Y, Yang L, Chen
J, Zhao F, Lu C, Qian Y, Lu F and Guan MX: Cosegregation of the ND4
G11696A mutation with the LHON-associated ND4 G11778A mutation in a
four generation Chinese family. Mitochondrion. 7:140–146. 2007.
View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Zhang J, Zhou X, Zhou J, Li C, Zhao F,
Wang Y, Meng Y, Wang J, Yuan M, Cai W, et al: Mitochondrial ND6
T14502C variant may modulate the phenotypic expression of
LHON-associated G11778A mutation in four Chinese families. Biochem
Biophys Res Commun. 399:647–653. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Qu J, Zhou X, Zhang J, Zhao F, Sun YH,
Tong Y, Wei QP, Cai W, Yang L, West CE and Guan MX: Extremely low
penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese
families carrying the ND4 G11778A mutation. Ophthalmology.
116:558–564. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Florentz C, Sohm B, Tryoen-Toth P, Putz J
and Sissler M: Human mitochondrial tRNAs in health and disease.
Cell Mol Life Sci. 60:1356–1375. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Wallace DC and Lott MT: Leber hereditary
optic neuropathy: Exemplar of an mtDNA disease. Handb Exp
Pharmacol. 240:339–376. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Wallace DC, Singh G, Lott MT, Hodge JA,
Schurr TG, Lezza AM, Elsas LJ II and Nikoskelainen EK:
Mitochondrial DNA mutation associated with Leber's hereditary optic
neuropathy. Science. 242:1427–1430. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Zhang J, Ji Y, Lu Y, Fu R, Xu M, Liu X and
Guan MX: Leber's hereditary optic neuropathy (LHON)-associated ND5
12338T > C mutation altered the assembly and function of complex
I, apoptosis and mitophagy. Hum Mol Genet. 27:1999–2011. 2018.
View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Ji Y, Zhang AM, Jia X, Zhang YP, Xiao X,
Li S, Guo X, Bandelt HJ, Zhang Q and Yao YG: Mitochondrial DNA
haplogroups M7b1′2 and M8a affect clinical expression of leber
hereditary optic neuropathy in Chinese families with the
m.11778G->a mutation. Am J Hum Genet. 83:760–768. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Ueda T, Yotsumoto Y, Ikeda K and Watanabe
K: The T-loop region of animal mitochondrial tRNA(Ser)(AGY) is a
main recognition site for homologous seryl-tRNA synthetase. Nucleic
Acids Res. 20:2217–2222. 1992. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Zheng P, Li S, Liu C, Zha Z, Wei X and
Yuan Y: Mitochondrial tRNAAla C5601T mutation may
modulate the clinical expression of tRNAMet A4435G
mutation in a Han Chinese family with hypertension. Clin Exp
Hypertens. 40:595–600. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Tanaka M, Ino H, Ohno K, Ohbayashi T,
Ikebe S, Sano T, Ichiki T, Kobayashi M, Wada Y and Ozawa T:
Mitochondrial DNA mutations in mitochondrial myopathy,
encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Biochem Biophys Res Commun. 174:861–868. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Ding Y, Teng YS, Zhuo GC, Xia BH and Leng
JH: The mitochondrial tRNAHis G12192A mutation may modulate the
clinical expression of deafness-associated tRNAThr G15927A mutation
in a Chinese pedigree. Curr Mol Med. 19:136–146. 2019. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Zhou HH, Dai XN, Lin B, Mi H, Liu XL, Zhao
FX, Zhang JJ, Zhou XT, Sun YH, Wei QP, et al: The analysis of
Leber's hereditary optic neuropathy associated with mitochondrial
tRNAAla C5601T mutation in seven Han Chinese families. Yi Chuan.
34:1031–1042. 2012.(In Chinese). View Article : Google Scholar : PubMed/NCBI
|
