Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
about
A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.Role of mitochondrial dysfunction in cancer progressionMitochondrial disorders. A diagnostic challenge in clinical chemistry.Maternally inherited hearing impairment.Genetics of inherited human epilepsiesFrequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.Noncanonical secondary structure stabilizes mitochondrial tRNA(Ser(UCN)) by reducing the entropic cost of tertiary folding.Mitochondrial A12308G alteration in tRNA(Leu(CUN)) in colorectal cancer samples.The genetic bases for non-syndromic hearing loss among ChineseMitochondrial rRNA and tRNA and hearing function.Mitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.New treatment options for hearing loss.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.Audiological and genetic features of the mtDNA mutations.A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.The role of mitochondria in epilepsy: implications for neurodegenerative diseases.Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?MELAS syndrome in a patient with a point mutation in MTTS1.The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.
P2860
Q24810699-71CB7DA0-2F93-4580-A409-BD5B87FFC1B0Q28829644-00BB42D9-1E6D-4E84-BF24-216647162784Q33793717-20CFDF4A-BD44-4493-ABDA-4B54B86FF950Q33975212-9F8A7B23-7B07-4DF5-BC25-BF3563D40764Q35236356-3BCBC72B-9A17-4DFF-974B-0AD6AFF7A0C1Q35436157-07626313-0646-475F-BC05-AF297BF75454Q35437142-B6C1CE18-1BED-4AB2-9821-98376F672066Q35447374-2B91F5F1-022B-4300-A6BD-E7AAD4069623Q35864177-065A010B-5C3A-4C6F-94C3-96586AA20948Q35879586-86862036-B7D8-4B83-B05E-047FE57172F1Q36697530-CCEA6D64-490A-4166-95B9-511A2D369024Q37979255-4B0CDA4D-E397-4040-82B6-68B796865986Q38088309-950C3AAE-1D2E-4FB6-9DA3-992E7381F61FQ38384722-1B95CCB6-ADD5-4BA2-A4E7-B494D06B2B70Q40619874-35FEA445-213D-410F-84EE-DEE391163EC4Q41908652-5BCDECB2-92D3-44D6-BAB7-CAFDB33A2479Q42008013-64D2AAE6-297D-4E53-9110-73B221D2EFCBQ43215586-B38F8395-844C-4092-B30A-83A24D0DEC26Q43784130-17CBD238-A873-4319-B959-701E1AA0EDCAQ43937103-717580A9-4312-40F6-8BCE-7AF2AD898E8DQ44842993-94DF487B-64F3-4BA2-9642-C7D1D7F975B5Q46982277-AD84EA02-A22D-4EB9-BB19-BF7DAB9AEB52Q47161567-E4788479-9E33-4E49-B7F1-15EA2ADAF540Q50429085-F71BFD99-0F16-41D0-8EB0-A3E132D8279AQ51715540-18581FCC-2106-4944-A9CB-C5DADAC19045
P2860
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Progressive myoclonus epilepsy ...... ted with mutations in the tRNA
@nl
Progressive myoclonus epilepsy ...... ns in the tRNA(Ser(UCN)) gene.
@en
type
label
Progressive myoclonus epilepsy ...... ted with mutations in the tRNA
@nl
Progressive myoclonus epilepsy ...... ns in the tRNA(Ser(UCN)) gene.
@en
prefLabel
Progressive myoclonus epilepsy ...... ted with mutations in the tRNA
@nl
Progressive myoclonus epilepsy ...... ns in the tRNA(Ser(UCN)) gene.
@en
P2093
P2860
P356
P1433
P1476
Progressive myoclonus epilepsy ...... ons in the tRNA(Ser(UCN)) gene
@en
P2093
Gerbitz KD
Klopstock T
Kurlemann G
Müller-Höcker J
Pongratz D
Weissert M
P2860
P304
P356
10.1002/ANA.410440409
P50
P577
1998-10-01T00:00:00Z