Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
about
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.Distinct role of Arabidopsis mitochondrial P-type pentatricopeptide repeat protein-modulating editing protein, PPME, in nad1 RNA editingBenign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.The investigation and management of metabolic myopathies.Cardiopulmonary Exercise Testing and Metabolic Myopathies.Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
P2860
Q36164488-2EE3D38F-239A-48CF-85A7-43EACAA9C3E3Q37130425-BF6FA781-39A1-4271-BBC6-48A3C26ACB68Q38970382-7D8B3480-DCD5-4294-A690-862AA515EFB8Q39034891-CAB24012-ED95-4D18-A808-17D157FB2784Q41330451-ABDBCBB2-2E32-4086-A0FD-6EEF34ECB50DQ46142793-09984291-904B-4672-95E9-98124B74063BQ47161991-5FE4745F-5E5D-4148-9D30-A89A30C7A7AC
P2860
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@ast
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@en
type
label
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@ast
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@en
prefLabel
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@ast
Novel MTND1 mutations cause is ...... ed assembly factor expression.
@en
P2093
P2860
P50
P356
P1433
P1476
Novel MTND1 mutations cause is ...... sed assembly factor expression
@en
P2093
Angela Baker
Bryan Lecky
Emma L Blakely
Gavin Falkous
Helen A L Tuppen
Hue-Tran Hornig-Do
Jane Newman
Langping He
Richard K Petty
Robert W Taylor
P2860
P304
P356
10.1042/CS20140705
P407
P577
2015-06-01T00:00:00Z