Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
about
Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidationMild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationPurification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patientsGeneral 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 turnoverEstrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activityLack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathMitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic ApproachesTwo alpha subunit donor splice site mutations cause human trifunctional protein deficiencyThe molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancyPrevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.Comparative Proteomic Analysis of Advanced Ovarian Cancer Tissue to Identify Potential Biomarkers of Responders and Nonresponders to First-Line Chemotherapy of Carboplatin and Paclitaxel.Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunitsIdentification and characterization of an intracellular protein complex that binds fibroblast growth factor-2 in bovine brain.Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.Acute fatty liver of pregnancy: an update on pathogenesis and clinical implications.Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Cryo-EM structure of human mitochondrial trifunctional protein
P2860
Q21090849-ACBF4C09-09E1-4539-8C89-46D65063E0DDQ24564364-E9CD1370-87BC-4169-855F-51204074B7ABQ24628908-8872037E-D328-4D33-A578-FE2BBFBFDD8AQ28186172-518102B6-86DA-4122-B142-90768C014EA1Q28260956-5297CD3F-05F3-4182-96E4-D6E33D742577Q28505245-B05CB6C6-E2FA-4DC3-BAF0-07351DC79885Q28972544-0674C0AE-7D40-4D0B-B3E6-9C4F1B558666Q34216105-D63F0497-49F3-4DA7-996E-17A913ADB30DQ34723105-1232D145-EDAC-47C9-8F94-D936F22217D8Q36433260-C69B8C9F-6A88-4769-A88C-386A41A39BF5Q36696710-156E5E49-BBFB-4F98-B1D8-90EE2C8BFDA8Q40967453-578F4D2B-153D-4044-882C-F5A2512FA8CAQ41195031-893E6227-637F-4334-9EFC-622F20ECE5D2Q41255673-F3B7E135-FAEA-47F3-A8A9-64B0E730F143Q41829561-AFC814BA-F984-4762-A08B-44323ADB3B84Q42067916-4207ADDE-5889-4216-AFD1-6CCAC0762997Q42546758-ACE70D47-CD0F-45CE-B90C-49B24BD91BB7Q42726016-BDCCCFD3-1C91-4164-8E11-F93F0DB19184Q43245541-3114F78D-4C81-45C2-AEAA-5883401D2250Q44161297-91A81041-88A8-4945-A915-2B66400F28B9Q45044362-65D23056-E65B-4F7A-AB04-838555BA5F38Q57940182-25CD8A94-6440-4D82-9583-E33BA0EC90C2
P2860
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Mitochondrial trifunctional pr ...... mutant enzyme in two patients.
@en
type
label
Mitochondrial trifunctional pr ...... mutant enzyme in two patients.
@en
prefLabel
Mitochondrial trifunctional pr ...... mutant enzyme in two patients.
@en
P2093
P2860
P356
P1476
Mitochondrial trifunctional pr ...... mutant enzyme in two patients.
@en
P2093
Hashimoto T
Komiyama A
Saudubray JM
Wanders RJ
P2860
P304
P356
10.1172/JCI117158
P407
P577
1994-04-01T00:00:00Z