Keywords: EGP; Egyptian person; HQ; High quality; LD; Linkage disequilibrium; LHON; Leber's hereditary optic neuropathy; mtDNA; Mitochondrial DNA; NGS; Next generation sequencing; rCRS; revised Cambridge reference sequence; SNP; Single nucleotide polymorphism; WGS;
مقالات ISI (ترجمه نشده)
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Keywords: Optic nerve; Second cranial nerve; Optic neuropathy; mtDNA; Oxidative phosphorylation; Mitochondrial; Respiratory chain; ADOA; Autosomal dominant optic atrophy; AION; Anterior ischemic optic neuropathy; AROA; Autosomal recessive optic atrophy; ATP; Adenos
Keywords: AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat
Keywords: ADEM; acute demyelinating encephalomyelitis; AION; anterior ischaemic optic neuropathy; AQP4; aquaporin-4; AZOOR; acute zonal occult outer retinopathy; CF; count fingers; CRION; chronic relapsing inflammatory optic neuropathy; CSF; cerebrospinal fluid; CT
Keywords: Mitochondria; Mitochondrial diseases; Neurodegenerative disorders; Pharmacological neuroprotection; Mitochondrie; Maladies mitochondriales; Maladies neurodégénératives; Neuroprotection pharmacologique; AD; Alzheimer's disease; AICAR; 5-aminoimidazole-4
Keywords: Mitochondrial diseases; MtDNA; Nuclear genome; Progressive external ophthalmoplegia; Exercise intolerance; Cerebellar ataxia; Refractory epilepsy; Movement disorders; Maladies mitochondriales; ADNmt; Génome nucléaire; Ophtalmoplégie progressive externe
Keywords: AED; antiepileptic drug; AHS; Alpers-Huttenlocher-syndrome; CNS; central nervous system; COX; Cytochrome-c-oxidase; CPEO; mitochondrial or nuclear chronic progressive external ophthalmoplegia; CSF; cerebro-spinal fluid; EMP; enecephalomyopathy; EP; ence
Keywords: AD; Alzheimer's disease; AIF; apoptosis-inducing factor; ATP; adenosine triphosphate; CI; complex I, NADH:ubiquinone oxidoreductase; coQ; coenzyme Q10, ubiquinone; kDa; kilo Dalton; LHON; Leber's hereditary optic neuropathy; MIM; mitochondrial inner membr
Keywords: RGC; retinal ganglion cell; LHON; Leber Hereditary Optic Neuropathy; LGN; lateral geniculate nucleus; V1; primary visual cortex; LPZ; lesion projection zone; CT; cortical thickness; Cortical plasticity; Visual loss; Retinotopic visual areas; Ganglion cell
Keywords: AD; Alzheimer disease; Aβ; amyloid-β; APP; amyloid-β protein precursor; ADDL; Aβ-derived diffusible ligand; ApoE4; apolipoprotein E; COX; cytochrome c oxidase; DLP1, aka Drp1; dynamin-like protein 1; ETC; electron transport chain; LHON; Leber's heredi
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant
Keywords: OXPHOS; mitochondrial DNA; inherited mitochondrial disease; 2D-BN-PAGE/SDS-PAGE; 2-Dimensional blue native polyacrylamide gel electrophoresis/sodium dodecyl sulfate polyacrylamide gel electrophoresis; BN-PAGE; Blue native polyacrylamide gel electrophoresi
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
Keywords: α-F1 and β-F1; Alpha and beta subunits of the ATP synthase; ACO1; Aconitase 1; CORE II; Ubiquinol-cytochrome c reductase complex; CPT1; Carnitine palmitoyltransferase I; CS; Citrate synthase; ENO 1; Enolase 1; G6PDH; Glucose-6-phosphate dehydrogenase; G
Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome
Keywords: PCOS; polycystic ovary syndrome; T2DM; type 2 diabetes mellitus; MetS; metabolic syndrome; mtDNA; mitochondrial DNA; TG; triglyceride; HbA1c; Hemoglobin A1c; MMP; mitochondrial membrane potential; ROS; reactive oxygen species; PMNs; polymononuclear leukoc
No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis
Keywords: LHON; LHON mutations; Mitochondrial DNA; mtDNA; Multiple sclerosis; Optic neuritis; Optic neuropathy;
Research papersQuantitative assessment of optic nerve in patients with Leber's hereditary optic neuropathy using reduced field-of-view diffusion tensor imaging
Keywords: LHON; Leber's hereditary optic neuropathy; rFOV-DTI; reduced field-of-view diffusion tensor imaging; RNFL; retinal nerve fiber layer; FA; fractional anisotropy; MD; mean diffusivity; λ//; principal eigenvalue; λâ¥; orthogonal eigenvalue; VF; visual f
Pupillometric evaluation of the melanopsin containing retinal ganglion cells in mitochondrial and non-mitochondrial optic neuropathies
Keywords: Melanopsin; Glaucoma; LHON; ADOA; Optic neuritis; NAION;
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778GÂ >Â A and m.14484TÂ >Â C of the mitochondrial DNA
Keywords: LHON; Mitochondriopathy; Mitochondrial DNA; Complex I; Respiratory chain; Oxidative phosphorylation;
Natural History of Conversion of Leber's Hereditary Optic Neuropathy
Keywords: HVF; Humphrey Visual Field; LHON; Leber's hereditary optic neuropathy; logMAR; logarithm of the minimum angle of resolution; MD; mean deviation; OCT; optical coherence tomography; RNFL; retinal nerve fiber layer;
ReviewInvestigating Leber's hereditary optic neuropathy: Cell models and future perspectives
Keywords: CRISPR; Clustered Regularly Interspaced Short Palindromic Repeats; EBV; Epstein Barr virus; LHON; Leber's hereditary optic neuropathy; RGC; retinal ganglion cells; EtBr; ethidium bromide; mitoTALENs; mitochondria targeted transcription-activator-like effe
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases
Keywords: MA-5; 4-(2,4-difluorophenyl)-2-(1H-indole-3-yl)-4-oxobutanoic acid; MELAS; myopathy encephalopathy lactic acidosis and stroke-like episodes; KSS; Kearns-Sayre syndrome; LHON; Leber hereditary optic neuropathy; ETC; electron transfer complex; BSO; l-buthio
Bipolar cell reduction precedes retinal ganglion neuron loss in a complex 1 knockout mouse model
Keywords: LHON; Leber's hereditary Optic Neuropathy; RGC; retinal ganglion cell; ADOA; Autosomal Dominant Optic Atrophy; OCR; oxygen consumption rates; SBACs; Starburst Amacrine Cells; Mitochondrial complex I; Retinal bipolar cell; Retinal ganglion cell; Oxidase
Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing
Keywords: Leber's hereditary optic neuropathy; LHON; Mitochondrial genome sequencing; Next-generation sequencing; Molecular diagnosis;
Gene Therapy for Leber Hereditary Optic Neuropathy
Keywords: ETDRS; Early Treatment Diabetic Retinopathy Study; GEE; generalized estimating equation; HM; hand movements; LHON; Leber hereditary optic neuropathy; logMAR; logarithm of the minimum angle of resolution; NAb; neutralizing antibody; OCT; optical coherence
Gene Therapy for Leber Hereditary Optic Neuropathy
Keywords: AAV; adeno-associated virus vector; ACF; anterior chamber fluid; DMEM; Dulbecco's modified Eagle's medium; ETDRS; Early Treatment Diabetic Retinopathy Study; IOP; intraocular pressure; LHON; Leber hereditary optic neuropathy; mtDNA; mitochondrial DNA; NAb
Increased expression of ApoE and protection from amyloid-beta toxicity in transmitochondrial cybrids with haplogroup K mtDNA
Keywords: 5-aza-dC; 5-aza-2â²-deoxycytidine; AD; Alzheimer's disease; AMD; Age-related Macular Degeneration; APOE; apolipoprotein E; ARPE-19; retinal pigmented epithelium cell line; ATP; adenosine triphosphate; BSA; bovine serum albumin; DMEM; Dulbecco's modified
Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population
Keywords: Keratoconus; mtDNA; Copy number; Haplogroup; Association study; KC; keratoconus; mtDNA; mitochondrial DNA; ROS; reactive oxygen species; OS; oxidative stress; OXPHOS; oxidative phosphorylation; LHON; Leber's hereditary optic neuropathy; rCRS; revised Camb
High-throughput screening of FDA-approved drugs using oxygen biosensor plates reveals secondary mitofunctional effects
Keywords: FXTAS; Fragile X syndrome; LHON; Leber's hereditary neuropathy; AMPK; AMP-activated protein kinase; OCR; oxygen consumption rate; ECAR; extracellular acidification rate; Mitochondrial disease; Oxygen; Bioenergetics; High-throughput screening;
ND3, ND1 and 39Â kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I
Keywords: A/D; active/de-active transition; AH; amphipathic helix; BN-PAGE; blue native polyacrylamide gel electrophoresis; DIGE; difference gel electrophoresis; dSDS-PAGE; double SDS-PAGE; DTT; dithiothreitol; F-NHS; fluorescein-N-hydroxysulfosuccinimide ester; hr
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
Keywords: Hypoestrogenism; HARS2 gene; HSD17B4 gene; LHON; Perrault syndrome;
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome
Keywords: ffERG; full-field electroretinogram; LHON; Leber's hereditary optic neuropathy; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF; myoclonic epilepsy with ragged red fibers; MID; mitochondrial disorders; mtDNA; mitoc
Short CommunicationApplications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population
Keywords: LHON; Leber's hereditary optic neuropathy; HRM; high-resolution melt; mtDNA; mitochondrial DNA; SNP; single nucleotide polymorphism; HRM; Leber's hereditary optic neuropathy; Mitochondrial DNA; Polymorphism;
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
Keywords: EEG; electroencephalogram; PAGE; polyacrylamide gel electrophoresis; mtDNA; mitochondrial DNA; LHON; Leber hereditary optic neuropathy; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; HRM; high resolution melt; PCR; p
The optic nerve: A “mito-window” on mitochondrial neurodegeneration
Keywords: Mitochondrial disease; Optic atrophy; Mitochondrial functions; LHON; DOA; Retinal ganglion cells;
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
Keywords: HON; hereditary optic neuropathy; RGC; retinal ganglion cell; mtDNA; mitochondrial DNA; LHON; Leber's Hereditary Optic Neuropathy; OPA; optic atrophy; TMEM126A; transmembrane protein 126A; IMS; intermembrane space; OM; outer membrane; IM; inner membrane;
Complex I impairment in mitochondrial diseases and cancer: Parallel roads leading to different outcomes
Keywords: CI; complex I; CIII; complex III; CIV; complex IV; CV; complex V; DB; decyl-benzoquinone; D-loop; displacement loop; HIF1α; hypoxia inducible factor 1α; LDH; lactate dehydrogenase; LHON; Leber's hereditary optic neuropathy; LS; Leigh syndrome; MELAS; mi
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy
Keywords: ADOA; autosomal dominant optic atrophy; GTPase; guanosine triphosphatase; LHON; Leber's hereditary optic atrophy; OPA1; ADOA; Dynamin-related GTPase; Mutation; Chinese;
LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1
Keywords: d-NADH; deamino-NADH; DB; decylubiquinone; HAR; hexaammineruthenium; LHON; Leber hereditary optic neuropathy; MELAS; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome; mtDNA; mitochondrial DNA; NDH-1; bacterial prot
The effects of idebenone on mitochondrial bioenergetics
Keywords: CRC; calcium retention capacity; Cs; cyclosporin; DMEM; Dulbecco's modified Eagle's medium; ÎÏm; mitochondrial membrane potential difference; DTT; dithiothreitol; FCCP; carbonylcyanide-p-trifluoromethoxyphenyl hydrazone; LHON; Leber's hereditary optic n
Mitochondrial changes associated with demyelination: Consequences for axonal integrity
Keywords: β-APP; beta-amyloid precursor protein; CNS; central nervous system; KSS; Kearns-Sayre syndrome; LHON; Leber's hereditary optic neuritis; MELAS; mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; MERRF; myoclonic epilepsy with ragge
Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON
Keywords: Essential hypertension; mtDNA; m.14484T>C; Chinese; Arterial stiffness; LHON;
Hypersensitivity of A8344G MERRF mutated cybrid cells to staurosporine-induced cell death is mediated by calcium-dependent activation of calpains
Keywords: CPEO; Chronic Progressive External Ophthalmoplegia; KSS; Kearns-Sayre Syndrome; LHON; Leber's Hereditary Optic Neuropathy; MELAS; Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes; MERRF; Myoclonic Epilepsy with Ragged Red Fibers;
Mitochondrial dysfunction in glaucoma: Understanding genetic influences
Keywords: RGC; retinal ganglion cell; POAG; primary open angle glaucoma; mtDNA; mitochondrial DNA; IOP; intraocular pressure; ADOA; autosomal dominant optic atrophy; LHON; Leber's hereditary optic neuropathy; ROS; reactive oxygen species; OXPHOS; oxidative phosphor
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Keywords: ARE; antioxidant response element; BSO; l-buthionine-(S,R)-sulfoximine; FRDA; Friedreich ataxia; HMPAO; technetium-99m-hexamethylpropyleneamine oxime; KSS; Kearns-Sayre syndrome; LHON; Leber hereditary optic neuropathy; LS; Leigh syndrome; MELAS; Mitoch
Mitochondrial bioenergetics and drug-induced toxicity in a panel of mouse embryonic fibroblasts with mitochondrial DNA single nucleotide polymorphisms
Keywords: ATP; adenosine triphosphate; BSA; bovine serum albumin; 2-DG; 2-deoxy-d-glucose; DMSO; dimethyl sulfoxide; DTNB; 5,5â² dithiobis 2 nitrobenzoic acid; FCCP; Carbonyl cyanide-p-trifluoromethoxyphenylhydrazone; LHON; Leber hereditary optic neuropathy; MEFs;
Leber hereditary optic neuropathy – Therapeutic challenges and early promise
Keywords: gene therapy; idebenone; Leber hereditary optic neuropathy; LHON; mitochondrial DNA; optic atrophy
Mitochondrial DNA abnormalities in ophthalmological disease
Keywords: mtDNA; Mitochondrial disease; Progressive external ophthalmoplegia; Optic atrophy; LHON; Retinopathy; Extraocular muscle
Mitochondrial dysfunction and Alzheimer's disease
Keywords: ABAD; amyloid-beta (Aβ) binding alcohol dehydrogenase; AD; Alzheimer's disease; APOE2; Apolipoprotein E epsilon-2 allele; APOE3; Apolipoprotein E epsilon-3 allele; APOE4; Apolipoprotein E epsilon-4 allele; APP; amyloid precursor protein; ATP; Adenosine-5
Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR
Keywords: mtDNA; LHON; Primary mutation; MAS-PCR; General population
mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population
Keywords: LHON; mtDNA; Mutation; m.3635G>A; Chinese;
The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations
Keywords: LHON; MT-ND1; MT-ND5; Mutational hotspot; Penetrance; Chinese;