ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
about
Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferaseSIRT3 deacetylates mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase 2 and regulates ketone body productionLeptin therapy in insulin-deficient type I diabetesLongitudinal evaluation of an N-ethyl-N-nitrosourea-created murine model with normal pressure hydrocephalusA branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistanceDysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's diseaseMetabolomic profiling reveals mitochondrial-derived lipid biomarkers that drive obesity-associated inflammationProduction and characterization of murine models of classic and intermediate maple syrup urine diseaseGenetic networks of liver metabolism revealed by integration of metabolic and transcriptional profiling.Modeling the resolution and sensitivity of FAIMS analyses.Gp93, the Drosophila GRP94 ortholog, is required for gut epithelial homeostasis and nutrient assimilation-coupled growth control.Daily Variation of Serum Acylcarnitines and Amino Acids.Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.Mig-6 plays a critical role in the regulation of cholesterol homeostasis and bile acid synthesis.Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14)Sex differences in biomarkers associated with insulin resistance in obese adolescents: metabolomic profiling and principal components analysisMetabolomic profile associated with insulin resistance and conversion to diabetes in the Insulin Resistance Atherosclerosis StudyHigh Protein Diet and Huntington's DiseaseIsocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cellsBranched-chain amino acids alter neurobehavioral function in ratsAnalysis of the zebrafish proteome during embryonic development.Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.Insulin resistance is associated with a metabolic profile of altered protein metabolism in Chinese and Asian-Indian menThe STEDMAN project: biophysical, biochemical and metabolic effects of a behavioral weight loss intervention during weight loss, maintenance, and regainSirt3 regulates metabolic flexibility of skeletal muscle through reversible enzymatic deacetylation.High heritability of metabolomic profiles in families burdened with premature cardiovascular disease.Metabolomic profiling reveals distinct patterns of myocardial substrate use in humans with coronary artery disease or left ventricular dysfunction during surgical ischemia/reperfusion.Animal models of maple syrup urine disease.Activation of nuclear receptor CAR ameliorates diabetes and fatty liver disease.Molecular alterations in skeletal muscle in rheumatoid arthritis are related to disease activity, physical inactivity, and disability.Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.Circadian clock NAD+ cycle drives mitochondrial oxidative metabolism in mice.Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.Metabolic Catastrophe in Mice Lacking Transferrin Receptor in MuscleLung injury-induced skeletal muscle wasting in aged mice is linked to alterations in long chain fatty acid metabolismPlasma acylcarnitines during insulin stimulation in humans are reflective of age-related metabolic dysfunction.From the Cover: Arsenite Uncouples Mitochondrial Respiration and Induces a Warburg-like Effect in Caenorhabditis elegans.Metabolic Alterations Contribute to Enhanced Inflammatory Cytokine Production in Irgm1-deficient Macrophages.Tandem mass spectrometry in discovery of disorders of the metabolome.Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
P2860
Q21563394-474B1699-5F98-419F-A2FA-3FF13A95F197Q24611702-0161CDC4-9F43-4F94-8F2B-CDF4428ABE0DQ24620780-1FD93AED-77E7-4AC0-8AD4-46147295A3A3Q27335334-1D1745C2-1102-4A8C-863D-6D8426958408Q28240815-03CBFC3E-0965-4055-BA5A-E5E12005E5DEQ28505492-8B0D0EE2-FD8F-4404-BE42-BC90C427BA5EQ28728589-5198EC8A-6955-4204-9569-871D903A33D8Q33238292-C73D7C29-34DF-4465-A626-BFF0112AE088Q33325905-EDA956C3-6404-4DFD-807A-E9A0DBF553E2Q33432284-F4CB23D4-A764-4ABF-90B7-10B14E318D33Q33695850-7C4D427D-7F36-4172-AD35-3D83280AA91AQ33938283-14207D3D-1834-4E3C-8EDB-317EF79C891DQ34266060-52662F8E-D32C-48FC-9BFE-7569CC25BDE0Q34389069-40326B98-4E83-4A8A-A92F-D6D095341FCEQ35073229-53F85281-A08C-4308-9B0B-18A7F1FA1987Q35083344-35C5B7F3-3DB4-4976-8E00-4EB90CE83CF9Q35096866-D7E59ADB-1ABD-4AD6-8232-83F89A0D8256Q35624733-7734589A-AC05-425F-A009-353856538F58Q36165625-F3244DFC-14B7-4238-9288-EBDF1F1D2BACQ36593081-B6F27267-218C-45FA-BA6E-DA7D8C4724D9Q36685029-8164C43C-3453-44FD-A66A-60E81402B4AAQ37061615-2ECBB762-1C2E-45B2-82AB-688845F3A482Q37120388-384DE0FE-B635-4129-8534-0E563D0B15EDQ37182916-81E4248C-563E-4B77-B18F-2F59ECFC70D2Q37193340-DDB64C02-E646-4E59-9A40-2ED9479A1E63Q37196164-C254EE97-9D6D-400D-8161-7B62DD609EC4Q37374980-31D78A33-4624-4E53-881D-D17319BA39F4Q37407144-84B8B3E7-0DBC-432A-BC33-782F0BA2D357Q37413529-AF0F0D77-84EE-4725-8027-3BDBC3363925Q37602700-2125E146-A337-49F7-8EC8-D168EDAC84ABQ37640465-9CF6A8E2-8278-46D2-8D14-629AEB8F021BQ37657495-3AB20080-AA49-462F-A9B7-8D01FE8A7E7CQ37835047-D72118F0-6112-40FF-B800-BFEC3F4147A9Q38255270-3F44C320-8916-4E01-892F-018F9DEDB539Q38952542-22DDD90D-CF44-4D3A-95B5-7D32E33E3738Q39331514-A269C2A1-9094-45ED-AD38-78BDB63BFA01Q39747691-DAE90237-8DFF-4C93-BD92-AC21E231337AQ40348070-F50C892E-388C-4A65-AEC0-CC6BC5E887A3Q40483832-ED58B6B6-A34A-42D9-9E74-D8A69CD557B8Q41477074-D71761F3-F0A5-4C2C-B420-3E8D28FBCB9A
P2860
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
description
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im Februar 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/02/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/02/01)
@nl
наукова стаття, опублікована в лютому 2004
@uk
مقالة علمية (نشرت في فبراير 2004)
@ar
name
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@ast
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@en
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@nl
type
label
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@ast
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@en
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@nl
prefLabel
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@ast
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@en
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@nl
P2093
P2860
P921
P3181
P356
P1476
ENU mutagenesis identifies mic ...... uman maple syrup urine disease
@en
P2093
David Millington
Hsiao-Jung Kao
Jer-Yuarn Wu
Robert Stevens
Sing-Chung Li
Steven Hillman
P2860
P304
P3181
P356
10.1172/JCI19574
P407
P577
2004-02-01T00:00:00Z