The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity
about
Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric sitePhosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young womanArts syndrome is caused by loss-of-function mutations in PRPS1Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)The genetics of hyperuricaemia and goutExpression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1)Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutationsA small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes goutAssociation of PRPS1 Mutations with Disease PhenotypesImplications of secondary structure prediction and amino acid sequence comparison of class I and class II phosphoribosyl diphosphate synthases on catalysis, regulation, and quaternary structureBiochemical characterization of the Mycobacterium tuberculosis phosphoribosyl-1-pyrophosphate synthetasePhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.PRPS1 mutations: four distinct syndromes and potential treatment.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.Discoveries in bacterial nucleotide metabolism.A brief history of TOR.Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.Higher biomass accumulation by increasing phosphoribosylpyrophosphate synthetase activity in Arabidopsis thaliana and Nicotiana tabacum.Feedback inhibition of amidophosphoribosyltransferase regulates the rate of cell growth via purine nucleotide, DNA, and protein syntheses.Phosphoribosyl pyrophosphate synthetase activity affects growth and riboflavin production in Ashbya gossypii.Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.Class II recombinant phosphoribosyl diphosphate synthase from spinach. Phosphate independence and diphosphoryl donor specificity.Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.Wild-type and feedback-resistant phosphoribosyl pyrophosphate synthetases from Bacillus amyloliquefaciens: purification, characterization, and application to increase purine nucleoside production.Cell cycle regulation of purine synthesis by phosphoribosyl pyrophosphate and inorganic phosphate.Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.Biosynthesis and Biological Activity of Carbasugars
P2860
Q24300913-B59CC3C6-60D7-4CD4-821A-A30C1E260F41Q24307494-D88F2CBA-D42F-4293-98DF-85F4211996A3Q24337475-176E38CA-8E0A-4FC5-813F-E4EE411DDBB7Q24337506-86AB17FB-8209-44D3-8766-BA926B9EC276Q24629964-21AECBF9-02E1-4D99-AE2F-28A21E37DC65Q24642888-DD4F2698-337E-4487-ABB8-2F3886B6570EQ24651113-F6BCF881-26A6-4FF9-B58A-9DC40BD8C41AQ27311514-07708552-2F08-4459-8915-816D1AA6CAB8Q27684206-979B19E9-A25A-4498-85CB-5A83F8C08807Q28080625-AB99DF87-42ED-4F74-BE95-79E5CE92717EQ28361909-6CB93B8A-B48D-4119-BC61-3A89651B54C5Q28487197-732E94A9-841E-4139-89C3-87E0DF953159Q30396867-2ACFA58A-1FC4-48B5-A294-A2386FB86248Q34109408-89C88292-F6D7-4C41-8C54-A10C7C002549Q34467709-0D92787A-15C8-4C57-9D01-B4A8BEDE2585Q35878664-E9C55D65-E995-46F7-A983-A933C64E6DCBQ36347988-DBA57E81-0DA4-4D2F-9DDA-56ED29FA7BA1Q36950996-9CCC145E-7EA2-48E1-9455-61EACCBB5B26Q37119784-6F00B98B-BBE6-4E7B-A427-67CDB22A3864Q37856366-3A05B50E-17F7-44F5-A95A-55E6E020A5CBQ38790818-73280791-89B1-45F1-8E88-03F953CA7081Q39597281-BA45046A-C156-4FAB-9873-6F638D3433F1Q40814444-94BABA74-2D4F-4D25-B60E-3E116899BC70Q41818534-1827AF7A-6D2C-41AC-8452-1E73F3F3100EQ43026577-B89F744A-5EC2-439B-80A5-65B6226C504CQ43559723-5478CECF-E327-49A3-A640-6F6FAF395406Q45345645-499D5161-CD55-4957-B596-711980D6BFB5Q46039306-54975C1B-4211-439D-A5BD-46BAEBAAE402Q46867283-32994073-E6E4-4847-A991-4B56A319BC6EQ47982855-CE3FA2CB-5876-4546-9AA8-FF581A96BF81Q51839584-442D48C9-3C9E-4E27-BFF6-AF5D8CB25E77Q53143825-146DA903-3CCC-4053-A7E0-24C8B19E6885Q55055531-2352069F-32DF-4011-8C8B-BAE43E5D6CF5Q59124355-D1CD2221-D434-40F5-B92A-F024B3456A1D
P2860
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity
description
1995 nî lūn-bûn
@nan
1995 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
The genetic and functional bas ...... phate synthetase superactivity
@ast
The genetic and functional bas ...... phate synthetase superactivity
@en
The genetic and functional bas ...... phate synthetase superactivity
@nl
type
label
The genetic and functional bas ...... phate synthetase superactivity
@ast
The genetic and functional bas ...... phate synthetase superactivity
@en
The genetic and functional bas ...... phate synthetase superactivity
@nl
prefLabel
The genetic and functional bas ...... phate synthetase superactivity
@ast
The genetic and functional bas ...... phate synthetase superactivity
@en
The genetic and functional bas ...... phate synthetase superactivity
@nl
P2093
P2860
P356
P1476
The genetic and functional bas ...... phate synthetase superactivity
@en
P2093
P2860
P304
P356
10.1172/JCI118267
P407
P577
1995-11-01T00:00:00Z