Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans
about
Autism and Metabolic DiseasesHigh prevalence of SLC6A8 deficiency in X-linked mental retardationX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.Transcriptome changes in Eriocheir sinensis megalopae after desalination provide insights into osmoregulation and stress adaption in larvaeArginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMCreatine deficiency syndromes and the importance of creatine synthesis in the brainIn vivo magnetic resonance spectroscopy: basic methodology and clinical applicationsInborn errors of creatine metabolism and epilepsy.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.Effects of creatine and β-guanidinopropionic acid and alterations in creatine transporter and creatine kinases expression in acute seizure and chronic epilepsy models.Transcriptome-wide discovery of microRNA binding sites in human brain.X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.Targeting cellular energy production in neurological disorders.A novel mouse model of creatine transporter deficiency.Gatm, a creatine synthesis enzyme, is imprinted in mouse placentaGenetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsArginine regulation by myeloid derived suppressor cells and tolerance in cancer: mechanisms and therapeutic perspectives.GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders.Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.Energy dysfunction in Huntington's disease: insights from PGC-1α, AMPK, and CKB.Metabolism of L-arginine by myeloid-derived suppressor cells in cancer: mechanisms of T cell suppression and therapeutic perspectives.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patientsElectrophysiology and biochemical analysis of cyclocreatine uptake and effect in hippocampal slices.Plasma guanidino compounds are altered by oral creatine supplementation in healthy humans.Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis.
P2860
Q22241822-261DD98B-D673-48F6-82EE-EB53AFC3703AQ24533559-447C8C8D-94FA-499B-9063-5FF5C1214E31Q24563790-EB2E85C4-0EFC-473F-9646-B8A2BB31E048Q24811264-86F70C68-FA09-4142-A09B-3AD55A40BBFBQ27322524-7791B27E-0F94-4D25-A8F1-3D4B9FC62133Q28118934-C5611E40-5C0A-418A-9CDD-400773777FAFQ28306965-C98BD60A-ED83-4AFA-A0B5-E2213A47866DQ30482507-F440F993-F21B-4AD0-B1E3-72AF20F3A79CQ30577669-E479FBE2-E7FD-4676-B4CA-FA89E24381ADQ30880728-F3A790DB-F27E-4F65-9F89-95F85DC8A55CQ31028468-FD646E55-BABE-4397-8179-CB3F2A679F74Q31036314-D208454D-0B07-4382-97FE-7086FB5D039EQ33205129-7B9E7699-BD5B-4BBF-BD6A-E1508DF1A77BQ33477139-D6FC66D2-77FC-47F6-A708-FEEC339F067AQ33729818-D34E8B79-6B6D-4059-A013-816C7C81B5A9Q33940022-52740C63-6C28-43A9-8496-7F52F722A798Q34147667-C1045C81-4736-4270-AD64-4567FCE1E97FQ34247638-8C769E4C-6F4A-42BF-B968-462EEDBDB289Q34266266-0778C0C5-BC60-4442-A053-B40A1E3CB500Q34570300-43511F5D-BEF5-444C-9B42-929E84AF562BQ34958754-3EC958F0-4175-467C-8682-F584885A7EB5Q36427796-56C07F91-CFF2-4676-BCA3-C5FE06F93475Q36556209-E1AE8BB4-AEFC-41FD-8231-25697F8EAFBAQ37118164-F491CED8-5D4B-45E2-9E63-30104B2090BFQ37426264-B007F40F-D268-4E1A-AE1A-79ECF5C9BF9AQ37621096-3A29E680-5854-463E-BB4A-8B9547AC9FBEQ37847248-ADD6CDEC-9086-4FCD-837E-391D5D3EB19CQ37976595-BD230F90-664F-4C45-8F59-46DB8C9177E0Q38013005-FCC82CDE-0509-49F0-9D35-745A48078674Q38047050-2DDB9C28-8E6E-4353-8DD8-FB259644D37FQ38208767-26A3CE7C-FBFF-4F8D-9ED8-90D65ABA768FQ38475578-51D15FCA-74E1-44A1-AF5A-A34C73C1FC72Q38715101-BDCA2042-4936-464E-9C21-6CDD7CC0ECC0Q38727725-8CEE2B9A-AFB9-41B2-A44B-FC7713F5962EQ39552148-F7D34135-ABF2-421E-9CC3-149478444859Q42167858-25E75DB0-E7DB-4228-AC4B-6CB6E08E4CDBQ42367965-97933793-6BB8-4A49-B200-1F48D20C2E83Q44537154-ED339FA2-4D63-4249-B5E5-EB796F5A6EECQ44859078-F55DD4FF-2099-4AEB-AAC2-3EA0F4FB19F7Q44971585-488F5273-5C82-4E30-9AF8-220FB8C39A10
P2860
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@ast
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@en
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@nl
type
label
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@ast
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@en
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@nl
prefLabel
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@ast
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@en
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@nl
P2093
P2860
P50
P356
P1476
Arginine:glycine amidinotransf ...... creatine metabolism in humans
@en
P2093
Bianchi MC
Stromberger C
Stöckler-Ipsiroglu S
P2860
P304
P356
10.1086/323765
P407
P577
2001-09-10T00:00:00Z