A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
about
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayMutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi populationA premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent mannerMassive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
P2860
Q28249240-F661D068-72B9-4252-B89B-F39933254E62Q33266841-7E717CF3-3297-47A1-9F53-69FB793FC185Q33957345-A00023ED-00C8-45F9-9C65-458BC26280E9Q36326993-6E0B9B1E-9EBE-4F30-8B6B-5F5E43E100D6Q41950414-9FC2BB2D-58D1-480D-AAC4-99A446096CF7Q44440620-27756A4D-6475-4D35-9DBE-2D0D05B23FF8Q44911924-1E239280-6549-4797-8162-3D373C3EB4A2Q51457899-1143DC4F-C07E-4E47-90CA-AD942AA3AFDAQ54467308-BEE61DDD-C7B6-42BA-8445-CDB9C8587C42
P2860
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@en
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@nl
type
label
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@en
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@nl
prefLabel
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@en
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@nl
P2093
P2860
P356
P1433
P1476
A nonsense mutation in the 3-h ...... glutaryl-CoA lyase deficiency.
@en
P2093
Hegardt FG
P2860
P304
P356
10.1042/BJ3230329
P407
P478
323 ( Pt 2)
P577
1997-04-01T00:00:00Z