scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1017657314 |
P356 | DOI | 10.1038/3804 |
P3181 | OpenCitations bibliographic resource ID | 4307651 |
P698 | PubMed publication ID | 9843204 |
P5875 | ResearchGate publication ID | 13444901 |
P2093 | author name string | J Wang | |
Z Zhu | |||
J Yao | |||
R M Brown | |||
M Chevrette | |||
E A Shoubridge | |||
K Fu | |||
G K Brown | |||
T Johns | |||
A P Cuthbert | |||
C Macmillan | |||
R F Newbold | |||
I De Bie | |||
P2860 | cites work | Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency | Q24308632 |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease | Q24309083 | ||
Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit | Q24309157 | ||
Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae | Q24310678 | ||
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant | Q24319047 | ||
Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc | Q74450832 | ||
Subacute necrotizing encephalomyelopathy in an infant | Q24564004 | ||
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria | Q27931009 | ||
SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration | Q27939004 | ||
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 | Q28245141 | ||
The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human | Q28299197 | ||
Ribosomal protein L7a is encoded by a gene (Surf-3) within the tightly clustered mouse surfeit locus | Q28591713 | ||
Computational method to predict mitochondrially imported proteins and their targeting sequences | Q29547581 | ||
Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells | Q29620524 | ||
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study | Q30840538 | ||
Ribosomal protein L27 is identical in chick and rat. | Q33263151 | ||
Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines | Q33763867 | ||
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene | Q34231358 | ||
Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). | Q36189741 | ||
A general high-efficiency procedure for production of microcell hybrids | Q36375264 | ||
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature | Q36447731 | ||
Interactions among three proteins that specifically activate translation of the mitochondrial COX3 mRNA in Saccharomyces cerevisiae | Q36645591 | ||
The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA. | Q36717413 | ||
Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution | Q37106346 | ||
The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genes | Q38336307 | ||
Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting | Q38514166 | ||
Gene transfer into mammalian cells by particle bombardment | Q38568295 | ||
An immortalized human fibroblast cell line is permissive for human cytomegalovirus infection | Q40045592 | ||
Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome) | Q40284347 | ||
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. | Q41129950 | ||
Neuropathology and pathogenesis of mitochondrial diseases | Q41180881 | ||
Identification of human tumour suppressor genes by monochromosome transfer: rapid growth-arrest response mapped to 9p21 is mediated solely by the cyclin-D-dependent kinase inhibitor gene, CDKN2A (p16INK4A). | Q41180913 | ||
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease | Q43499491 | ||
Physical mapping of human chromosome 17 using fragment-containing microcell hybrids | Q43595115 | ||
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome | Q44595873 | ||
Characterization of cytochrome-c oxidase mutants in human fibroblasts | Q44913445 | ||
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome | Q48054632 | ||
Cytochrome c oxidase deficiency in Leigh syndrome | Q48203324 | ||
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome | Q48647985 | ||
Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene | Q48649113 | ||
Leigh syndrome: clinical features and biochemical and DNA abnormalities. | Q49107059 | ||
Deficiency of respiratory chain complex I is a common cause of Leigh disease. | Q55066535 | ||
Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies | Q55984317 | ||
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations | Q63644741 | ||
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome) | Q69363486 | ||
Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells | Q70979896 | ||
Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome | Q71943526 | ||
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome | Q72632067 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | SURF1 cytochrome c oxidase assembly factor | Q21108425 |
P304 | page(s) | 337-43 | |
P577 | publication date | 1998-12-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | |
P478 | volume | 20 |
Q50304932 | 5q14.3 deletion manifesting as mitochondrial disease and autism: case report |
Q92543630 | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia |
Q48839472 | A SURF1 gene mutation presenting as isolated leukodystrophy |
Q33783130 | A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization |
Q28199158 | A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis |
Q37592286 | A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome |
Q24535681 | A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16 |
Q53075411 | A history of mitochondrial diseases |
Q24540271 | A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation |
Q28118731 | A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy |
Q24536088 | A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy |
Q34088669 | A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. |
Q34768367 | A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy |
Q47074411 | A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. |
Q37774749 | A neurological perspective on mitochondrial disease. |
Q57588426 | A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency |
Q46667511 | A novel mtDNA C11777A mutation in Leigh syndrome |
Q48598189 | A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency |
Q37434032 | A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome |
Q28509157 | A stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscle |
Q34390115 | A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. |
Q35009121 | A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency |
Q35613363 | Aberrant translation of cytochrome c oxidase subunit 1 mRNA species in the absence of Mss51p in the yeast Saccharomyces cerevisiae |
Q73943201 | Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes |
Q36358437 | An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect |
Q27933372 | Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family |
Q27931313 | Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes. |
Q36239807 | Antibody-based approaches to diagnosis and characterization of oxidative phosphorylation diseases |
Q37220086 | Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders |
Q43623400 | Assay of mitochondrial ATP synthesis in animal cells |
Q77647835 | Assembling a time bomb--cytochrome c oxidase and disease |
Q56760543 | Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes |
Q34535761 | Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process |
Q53151719 | Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures? |
Q33737221 | Autonomous regulation in mammalian mitochondrial DNA transcription. |
Q36796192 | Biochemical assays of respiratory chain complex activity |
Q73089677 | Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency |
Q41854808 | Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells |
Q34220248 | Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core |
Q27939371 | COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae |
Q42471810 | Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency. |
Q36375925 | Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder. |
Q50515893 | Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions |
Q83648544 | Characterization of heme‐binding properties of Paracoccus denitrificans Surf1 proteins |
Q40756585 | Chronic treatment with azide in situ leads to an irreversible loss of cytochrome c oxidase activity via holoenzyme dissociation |
Q37832680 | Classical and alternative components of the mitochondrial respiratory chain in pathogenic fungi as potential therapeutic targets |
Q34280992 | Clinical and molecular studies of mitochondrial disease |
Q73912619 | Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations |
Q33955376 | Clinical mitochondrial genetics |
Q27934347 | Coa1 links the Mss51 post-translational function to Cox1 cofactor insertion in cytochrome c oxidase assembly. |
Q27937418 | Coa2 is an assembly factor for yeast cytochrome c oxidase biogenesis that facilitates the maturation of Cox1. |
Q27936564 | Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria |
Q39989238 | Complements of the house |
Q50517716 | Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies |
Q37224764 | Concordance of gene expression in human protein complexes reveals tissue specificity and pathology |
Q45124854 | Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. |
Q26866097 | Control of protein synthesis in yeast mitochondria: The concept of translational activators |
Q24534079 | Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations |
Q24337613 | Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency |
Q36255720 | Cytochrome c Oxidase Biogenesis and Metallochaperone Interactions: Steps in the Assembly Pathway of a Bacterial Complex |
Q37071707 | Cytochrome c oxidase biogenesis: new levels of regulation |
Q28189586 | Cytochrome c oxidase deficiency |
Q35038648 | Cytochrome c oxidase deficiency |
Q36218389 | Cytochrome c oxidase dysfunction in oxidative stress |
Q42508840 | Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome |
Q24299371 | Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1 |
Q40816638 | Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles |
Q34594190 | Cytochrome oxidase in health and disease. |
Q47952796 | Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations |
Q34600372 | Defects in cytochrome oxidase assembly in humans: lessons from yeast |
Q30331712 | Defects in mitochondrial respiratory complexes III and IV, and human pathologies. |
Q34524462 | Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome |
Q39241624 | Dentate Update: Imaging Features of Entities That Affect the Dentate Nucleus. |
Q38126245 | Diagnosis of mitochondrial myopathies |
Q51031048 | Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome |
Q94581343 | Differential expression of the five redox complexes in the retinal mitochondria or rod outer segment disks is consistent with their different functionality |
Q51682565 | Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models. |
Q33948563 | Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration |
Q24672004 | Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs |
Q33792208 | Does the patient have a mitochondrial encephalomyopathy? |
Q27938879 | Dual functions of Mss51 couple synthesis of Cox1 to assembly of cytochrome c oxidase in Saccharomyces cerevisiae mitochondria |
Q34368117 | EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. |
Q34643074 | EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. |
Q40922491 | Each mammalian mitochondrial outer membrane porin protein is dispensable: effects on cellular respiration |
Q47074213 | Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model |
Q82107861 | Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice |
Q42556101 | Effect of p53 on mitochondrial morphology, import, and assembly in skeletal muscle. |
Q33944937 | Energetics in the pathogenesis of neurodegenerative diseases |
Q35632855 | Energetics, epigenetics, mitochondrial genetics |
Q36448758 | Energy metabolism of the visual system |
Q34939577 | Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence |
Q28137735 | Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency |
Q37649092 | Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency |
Q22010737 | Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene |
Q33627236 | Formation of the redox cofactor centers during Cox1 maturation in yeast cytochrome oxidase. |
Q35436157 | Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies |
Q89977752 | From Synthesis to Utilization: The Ins and Outs of Mitochondrial Heme |
Q21145672 | From bytes to bedside: data integration and computational biology for translational cancer research |
Q51656878 | Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome |
Q24301509 | Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association |
Q38488166 | Functional evidence for a squamous cell carcinoma mortality gene(s) on human chromosome 4. |
Q35561244 | Gastrointestinal manifestations of mitochondrial disease |
Q33884049 | Gene expression profiling of whole blood cells supports a more efficient mitochondrial respiration in hypoxia-challenged gilthead sea bream (Sparus aurata) |
Q35680303 | Genetic defects in the oxidative phosphorylation (OXPHOS) system |
Q35879073 | Genetics of inherited cardiomyopathies |
Q34650435 | Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies |
Q28661465 | Historical perspective on mitochondrial medicine |
Q28117328 | Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation |
Q33582770 | Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase |
Q34972244 | Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. |
Q34067750 | Human cytochrome oxidase deficiency |
Q28142444 | Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization |
Q24540036 | Human mitochondrial complex I in health and disease |
Q47198282 | Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity |
Q37022698 | Hypertrophic olivary degeneration: A clinico-radiologic study |
Q24794901 | Identification of two Mycobacterium tuberculosis H37Rv ORFs involved in resistance to killing by human macrophages |
Q74364886 | Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit |
Q34793219 | Import and assembly of proteins into mitochondria of mammalian cells |
Q40775533 | In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I. |
Q27935659 | Inaccurately assembled cytochrome c oxidase can lead to oxidative stress-induced growth arrest. |
Q44099489 | Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction |
Q40394628 | Inheritance of mitochondrial disorders |
Q38624841 | Integrating mitochondrial translation into the cellular context |
Q37823208 | Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation |
Q82029889 | Investigation of metabolic myopathies |
Q28217558 | Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation |
Q22253189 | Isolation and genomic analysis of the human surf-6 gene: a member of the Surfeit locus |
Q56866491 | Isolation and sequence of the human cytochrome c oxidase subunit VIIaL gene |
Q21184006 | Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase |
Q24533500 | Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency |
Q42508837 | Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency |
Q34544668 | Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan |
Q38962266 | Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing |
Q31034830 | Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options |
Q38482925 | Leigh syndrome: neuropathology and pathogenesis. |
Q52309219 | Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice |
Q24648969 | Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease |
Q37302025 | Light microscopic methods to visualize mitochondria on tissue sections |
Q38806341 | Loss of LRPPRC causes ATP synthase deficiency |
Q34964534 | Loss of function of Sco1 and its interaction with cytochrome c oxidase |
Q50962184 | Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion |
Q39541857 | MITOP, the mitochondrial proteome database: 2000 update |
Q83120532 | Measurement of ATP production in mitochondrial disorders |
Q37909459 | Mechanisms of mitochondrial diseases |
Q39563211 | Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast |
Q24621005 | Mitochondria and dystonia: the movement disorder connection? |
Q33587719 | Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees |
Q42520192 | Mitochondrial DNA depletion in Leigh syndrome |
Q55052993 | Mitochondrial DNA mutations in disease and aging. |
Q36524727 | Mitochondrial DNA mutations in human colonic crypt stem cells |
Q48216498 | Mitochondrial Depletion Causes Neonatal-Onset Leigh Syndrome, Myopathy, and Renal Tubulopathy |
Q34366678 | Mitochondrial defects in neurodegenerative disease |
Q34543745 | Mitochondrial disease |
Q36551271 | Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis |
Q36707793 | Mitochondrial disease--its impact, etiology, and pathology. |
Q78517318 | Mitochondrial diseases |
Q36765849 | Mitochondrial diseases: a nosological update. |
Q46835436 | Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations |
Q35038630 | Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features |
Q33793717 | Mitochondrial disorders. A diagnostic challenge in clinical chemistry |
Q27000484 | Mitochondrial disorders: challenges in diagnosis & treatment |
Q35188338 | Mitochondrial disorders: clinical presentation and diagnostic dilemmas |
Q35800518 | Mitochondrial disorders: prevalence, myths and advances. |
Q37322156 | Mitochondrial dysfunction in neurodegenerative diseases. |
Q82029875 | Mitochondrial encephalomyopathies |
Q34063889 | Mitochondrial encephalomyopathy |
Q35632864 | Mitochondrial energetics and therapeutics |
Q26849285 | Mitochondrial genetics |
Q33785697 | Mitochondrial myopathies and encephalomyopathies |
Q33829449 | Mitochondrial myopathy diagnosis |
Q34448878 | Mitochondrial oxidative phosphorylation system assembly in man: recent achievements |
Q33759088 | Mitochondrial respiratory chain disorders and the liver |
Q36268449 | Mitochondrial retrograde signaling regulates neuronal function |
Q35038672 | Models of mitochondrial disease |
Q37206274 | Molecular diagnostics and mitochondrial dysfunction: a future perspective. |
Q37785514 | Molecular genetics of mitochondrial disorders |
Q53194533 | Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections |
Q37120797 | Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases |
Q27935299 | Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae |
Q37368127 | Mss51p promotes mitochondrial Cox1p synthesis and interacts with newly synthesized Cox1p. |
Q47979553 | Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy |
Q47994091 | Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. |
Q82365105 | Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system |
Q45979469 | Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. |
Q24336408 | Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease |
Q28204376 | Mutation screening in patients with isolated cytochrome c oxidase deficiency |
Q38592664 | Mutations causing mitochondrial disease: What is new and what challenges remain? |
Q24301791 | Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis |
Q33960447 | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect |
Q50218362 | Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature |
Q24328756 | Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy |
Q28214123 | Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency |
Q28646237 | Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy |
Q24534480 | Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. |
Q73905967 | Myc and YY1 mediate activation of the Surf-1 promoter in response to serum growth factors |
Q38818384 | Myoglobin and the regulation of mitochondrial respiratory chain complex IV. |
Q39414816 | Myopathology of Adult and Paediatric Mitochondrial Diseases |
Q24304313 | NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency |
Q37784963 | Neurodevelopmental manifestations of mitochondrial disease. |
Q34458266 | Neuropathological features of mitochondrial disorders |
Q43497460 | New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase. |
Q43560233 | New splicing-site mutations in the SURF1 gene in Leigh syndrome patients |
Q28393214 | Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry |
Q33853426 | Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts |
Q34657768 | Nuclear activators and coactivators in mammalian mitochondrial biogenesis |
Q36796199 | Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria |
Q48864554 | Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria |
Q33836199 | Oxidative phosphorylation disease diagnosis |
Q37412986 | Pathogenic mutations of nuclear genes associated with mitochondrial disorders |
Q35563957 | Patterned Purkinje cell death in the cerebellum |
Q34587197 | Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. |
Q51653677 | Probing striated muscle mitochondrial phenotype in neuromuscular disorders |
Q54122656 | Proteome Imbalance of Mitochondrial Electron Transport Chain in Brown Adipocytes Leads to Metabolic Benefits. |
Q49118213 | Proton MR Spectroscopy in Patients with Leigh Syndrome. |
Q36634147 | Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias. |
Q90296962 | Recent advances in understanding the molecular genetic basis of mitochondrial disease |
Q33640946 | Regional differences in the coupling of cerebral blood flow and oxygen metabolism changes in response to activation: implications for BOLD-fMRI |
Q36492752 | Rescue of PINK1 Protein Null-specific Mitochondrial Complex IV Deficits by Ginsenoside Re Activation of Nitric Oxide Signaling |
Q28189572 | Respiratory chain complex I deficiency |
Q51699078 | Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency |
Q38861730 | Review: Central nervous system involvement in mitochondrial disease |
Q33705828 | Revolution in mitochondrial medicine |
Q41005806 | SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome |
Q28118095 | SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease |
Q36996508 | SURF1 deficiency: a multi-centre natural history study. |
Q52431176 | SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype |
Q83843481 | SURF1-associated Leigh syndrome: a case series and novel mutations |
Q35053411 | Searching for nuclear-mitochondrial genes |
Q47072011 | Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome |
Q43564487 | Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain |
Q27933832 | Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly |
Q39646401 | Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome |
Q27931754 | Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast |
Q28141185 | Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia |
Q24299240 | Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin |
Q37101634 | Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process |
Q37377668 | Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis |
Q58101818 | Synthetic Fe/Cu Complexes: Toward Understanding Heme-Copper Oxidase Structure and Function |
Q38021403 | The Many Clinical Faces of Cytochrome c Oxidase Deficiency |
Q34500004 | The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding. |
Q37581245 | The SFT-1 and OXA-1 respiratory chain complex assembly factors influence lifespan by distinct mechanisms in C. elegans |
Q37648911 | The clinical maze of mitochondrial neurology |
Q26781052 | The different facets of organelle interplay-an overview of organelle interactions |
Q49835166 | The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism |
Q34458255 | The expanding spectrum of nuclear gene mutations in mitochondrial disorders |
Q37560946 | The genetics and pathology of mitochondrial disease. |
Q34237999 | The genetics and pathology of oxidative phosphorylation |
Q34366873 | The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturation |
Q34118099 | The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts |
Q33608204 | The in-depth evaluation of suspected mitochondrial disease |
Q28236069 | The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1 |
Q34269333 | The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases |
Q37287583 | The pathophysiology of mitochondrial disease as modeled in the mouse |
Q37418894 | The power of yeast to model diseases of the powerhouse of the cell. |
Q34280999 | The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders |
Q28214804 | Three novel SURF-1 mutations in Japanese patients with Leigh syndrome |
Q33737679 | Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease |
Q39024278 | Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects. |
Q24534961 | Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1 |
Q34764056 | Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome |
Q37923355 | Transduction of Human Recombinant Proteins into Mitochondria as a Protein Therapeutic Approach for Mitochondrial Disorders |
Q37077838 | Transfer of human artificial chromosome vectors into stem cells |
Q36796270 | Transmitochondrial technology in animal cells |
Q24679782 | Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain |
Q48618533 | Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations |
Q47601527 | Unilateral Symptomatic Hypertrophic Olivary Degeneration Secondary to Midline Brainstem Cavernous Angioma: A Case Report and Review of the Literature |
Q50752065 | Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations |
Q52170458 | What is new in pediatric neurology? |
Q34517765 | Yeast mitochondrial biogenesis: a model system for humans? |
Q79918878 | [Diagnostic investigations of mitochondrial diseases with neurological symptoms] |
Q24337811 | hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly |
Search more.