Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
about
Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson diseaseDe novo mtDNA point mutations are common and have a low recurrence risk.Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TWMutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.Mitochondrial DNA polymorphisms specifically modify cerebral β-amyloid proteostasisNuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Ribosome profiling reveals features of normal and disease-associated mitochondrial translation.Emerging roles of tRNA in adaptive translation, signalling dynamics and disease.A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.Mutations in mitochondrial complex III uniquely affect complex I in Caenorhabditis elegans.Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsNeonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
P2860
Q28280353-C0391EB6-98AA-4536-9E60-7100F36D1544Q33886230-132A3D63-17AA-4F11-9A87-2C3B5DDC0022Q34290911-C440AA59-3A30-4013-92C9-574846138F2EQ34694743-2BC255FF-B4D6-4C2E-878F-B9BFED24064EQ36960466-2E7FE837-64FB-4B49-8F1D-129AEF7E4004Q36999666-9745450F-6ACF-403C-B92A-78ABB1EE60FCQ37394053-6F2F7383-849C-4289-8E27-FA47594EF97FQ38298151-AAEEBD10-A9F0-417C-8B3E-5188D5A96C2EQ40290213-D71B00EA-1953-407F-8442-1BAA6D9BCE7EQ41197782-184037AA-76BE-4E56-87E2-75E9177C90BEQ41821619-B269AD58-2DFE-4D97-A526-EF496AEA3F86Q48056181-A7F6E455-81EA-46E8-9F4D-4C905154B7F3Q49037134-A50BB15F-178E-4B0F-89E2-BACE0B0DAF96Q57390016-BFC2A9FD-F46B-4DB8-991B-4E5D6632C502Q57847506-54C0D2B1-143C-43AD-BCEB-BD9F64B5286A
P2860
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Functional consequences of mit ...... using combined OXPHOS defects.
@ast
Functional consequences of mit ...... using combined OXPHOS defects.
@en
type
label
Functional consequences of mit ...... using combined OXPHOS defects.
@ast
Functional consequences of mit ...... using combined OXPHOS defects.
@en
prefLabel
Functional consequences of mit ...... using combined OXPHOS defects.
@ast
Functional consequences of mit ...... using combined OXPHOS defects.
@en
P2093
P2860
P50
P356
P1476
Functional consequences of mit ...... ausing combined OXPHOS defects
@en
P2093
Eva Morava
Frans van den Brandt
Frits Wijburg
Ger Pruijn
Jan Smeitink
Leo Nijtmans
Mariël van den Brand
Sandy Mattijssen
P2860
P2888
P304
P356
10.1038/EJHG.2009.169
P577
2009-10-07T00:00:00Z