A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
about
The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.Mitochondria and dystonia: the movement disorder connection?A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex ICardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsModification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesWobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial diseaseMolecular biology of neurological diseases.Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).A guide to diagnosis and treatment of Leigh syndrome.Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamicsNew evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients.Lost in Translation: Defects in Transfer RNA Modifications and Neurological Disorders.Transfer RNA and human diseaseMitochondrial disorders. A diagnostic challenge in clinical chemistry.Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationDefective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.Glucose metabolism derangements in adults with the MELAS m.3243A>G mutationFine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).Disorders of mitochondrial protein synthesis.New morphological approaches to the study of mitochondrial encephalomyopathies.Disorders associated with multiple deletions of mitochondrial DNA.A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and agingMitochondrial DNA sequence variation in human evolution and disease.Hitting the brakes: termination of mitochondrial transcription.Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseasesClinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
P2860
Q24315784-355D4F68-590E-48F0-B5D3-EFAE92A22902Q24621005-B8281757-D128-4F0F-B1B5-0E1170F87F0BQ24669970-0DC09801-979A-4378-A9ED-D1F49282CE97Q24799134-3DEEF77F-FD16-48C9-A042-5982BE54C46EQ26777744-C699CFDA-9243-46B1-B1FE-04815B7C1BD2Q27027853-B6E7970D-DBCD-425F-A319-8D8D6D617A12Q28144145-8BD1C5F0-DE4A-4680-B576-65A44EFF6FCAQ28348375-779DCAE6-7D6A-4BC1-A1CB-DAD847C065C2Q30493405-0ED5B593-C417-41E2-A7AD-46EE0A985858Q30629306-86309C16-E076-4DB7-AE72-985F753F9877Q30649372-7EB70D05-4D57-4278-A647-6BFB2A51039FQ33253241-4030AE11-F6AC-4D52-8F41-C5118997F994Q33332350-70632FAD-47B7-40D7-9999-77E7BC83944CQ33348163-8329F419-41A9-498A-825F-C9DAB99C442DQ33650163-B6701D2A-2C38-4C18-932B-3A53417977E8Q33703946-08646F86-597B-4E1E-A185-3DE15C4F7E93Q33793717-993A85B6-CB6A-4E01-9016-3788C5F3AF62Q33821565-F0F62100-2EFE-4373-A279-2DA0B4971DD2Q33904943-246AE42C-4F8D-492D-9F19-C5DC59909BA5Q34013421-90D1FB83-25F9-4019-BD5F-0F59467496DBQ34043733-7F6A9FC6-6F20-44FE-AFDC-2FF144C91F56Q34046457-3AC69342-9202-4071-B3E0-CCD75334EFAAQ34064462-DE2CC4DB-6387-4214-BF7A-E755B2EBDA27Q34386122-A2AFF97C-BBF2-49B5-B224-B375CCD075A0Q34386522-EECB5428-4829-4977-893C-07B167F8DFB2Q34608474-8095112F-8874-44D7-91C5-7356EC2139ECQ34615869-9D607753-0518-40B1-B395-3A4F61740C85Q34967855-C485061A-DD99-41E0-A902-A7AFD996DE83Q35195556-0CCCABE2-EE0A-4F82-A65C-9D80D988BA74Q35196249-2FA6A0D2-4690-4008-939E-9FCA8C3AFAA6Q35196821-74FAD671-955A-46B0-94B2-F36B048539E2Q35203201-B1786394-98CF-404E-96BC-966DD04E96E3Q35243818-0E378560-1AFF-45FF-A428-72A2C4101642Q35243833-26F8CE25-5E1B-430A-A67A-3BF5E250ABE6Q35567345-0C9DF1C5-B858-4FEC-A1D3-32DF792BFC71Q35644545-FC16A80F-2A6E-45F4-BF3A-8C52BF64633DQ35744723-DFE09FE6-CF22-43BE-BFCC-07AE771EA0FCQ36129409-2E5A9885-7AF6-4579-8866-524B44A2F8DDQ36159449-CED96D1D-94D6-44CD-8BB1-6208FDCA87A2Q36315256-73A385B6-7FDC-464A-A9EB-74423B619CE9
P2860
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
A point mutation in the mitoch ...... sis and stroke-like episodes).
@en
type
label
A point mutation in the mitoch ...... sis and stroke-like episodes).
@en
prefLabel
A point mutation in the mitoch ...... sis and stroke-like episodes).
@en
P2093
P1476
A point mutation in the mitoch ...... sis and stroke-like episodes).
@en
P2093
Kobayashi Y
Tominaga K
Yanagisawa M
P304
P356
10.1016/S0006-291X(05)80860-5
P577
1990-12-01T00:00:00Z