Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
about
Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidationMolecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhoodMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationGeneral mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnoverLong-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical reviewMaternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant alleleThe complexity of cardiolipin in health and diseaseLack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathIdentification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.Inborn errors of mitochondrial fatty acid oxidation.Deletion of Cyclophilin D Impairs β-Oxidation and Promotes Glucose MetabolismMetabolomics-assisted proteomics identifies succinylation and SIRT5 as important regulators of cardiac function.Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunitsProteomic approaches for profiling negative fertility markers in inferior boar spermatozoaVery-long-chain acyl-CoA dehydrogenase deficiency: molecular genetics of a mitochondrial membrane enzyme.Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
P2860
Q21090849-CACE3865-9B92-4875-84F1-8BBA4E871E5DQ24303615-50C9B1BB-D743-4DBE-AA4F-71CC79EF29F7Q24535744-96C80427-721E-4803-BA17-4DFB6C0D5A7BQ24540131-50D12D4B-6EFA-4BB2-938E-C5E9EC5191F1Q24564364-C91745A0-E6A8-4597-AD89-98F14B7A25E0Q28186172-C96906B4-73C3-4C39-BF4E-4EFADECACB10Q28214659-D6C7D3A5-538A-4F41-ABB9-7178F8C89476Q28293444-20E8A5B3-4B33-4A61-B08A-A04E7BDB6678Q28395624-2A268548-08CB-47E1-BD2B-DD1082B539A1Q28505245-F82D5F54-6E0F-4BF4-A543-0772627BE050Q30445511-C8498227-36EC-4733-B755-9C4AA7A643C8Q33875702-8D43AB65-CA46-496B-98B1-DDCD6D420C5AQ36227218-7A1AF368-AC05-40EE-8D70-C014D2797FFCQ36831646-8CE12354-CCF8-42E3-8498-3BFB3229FBE1Q40049553-0753278C-AE05-43E7-8AFB-A1236583D725Q41829561-C899CFB7-BA16-4E19-B193-B9E39635AAC0Q41986416-BBD1F3B1-F7F6-40CB-A453-D8B316AAB550Q42950816-B90EBD47-B144-4DE2-8043-175324E671FCQ47147365-7E1EAFD2-EF76-4B0A-B23E-5EC2FA91EEB9Q47980006-CC1DDA76-B971-4A60-9282-826450D18FF1Q48713528-AFBE29D9-A727-4033-A9AD-268EF1AF20C2
P2860
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
Two alpha subunit donor splice ...... ifunctional protein deficiency
@ast
Two alpha subunit donor splice ...... ifunctional protein deficiency
@en
Two alpha subunit donor splice ...... ifunctional protein deficiency
@nl
type
label
Two alpha subunit donor splice ...... ifunctional protein deficiency
@ast
Two alpha subunit donor splice ...... ifunctional protein deficiency
@en
Two alpha subunit donor splice ...... ifunctional protein deficiency
@nl
prefLabel
Two alpha subunit donor splice ...... ifunctional protein deficiency
@ast
Two alpha subunit donor splice ...... ifunctional protein deficiency
@en
Two alpha subunit donor splice ...... ifunctional protein deficiency
@nl
P2093
P2860
P356
P1476
Two alpha subunit donor splice ...... ifunctional protein deficiency
@en
P2093
A W Strauss
C K Powell
J C Brackett
M J Bennett
P2860
P304
P356
10.1172/JCI117894
P407
P577
1995-05-01T00:00:00Z