Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
about
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationCowchock syndrome is associated with a mutation in apoptosis-inducing factorLoss-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 mutationsPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes goutAssociation of PRPS1 Mutations with Disease PhenotypesPhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.Using evolutionary conserved modules in gene networks as a strategy to leverage high throughput gene expression queriesPRPS1 mutations: four distinct syndromes and potential treatment.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.RNA Polymerase II Inhibitor, α-Amanitin, Affects Gene Expression for Gap Junctions and Metabolic Capabilities of Cumulus Cells, but Not Oocyte, during in vitro Mouse Oocyte Maturation.Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.MicroRNAs in Neural Stem Cells and NeurogenesisHearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.The mitochondrial connection in auditory neuropathy.A brief history of TOR.Genetic and phenotypic variability of optic neuropathies.Charcot-Marie-Tooth disease and pathways to molecular based therapies.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.Neurotrophic features of human adipose tissue-derived stromal cells: in vitro and in vivo studies.Phosphoribosyl pyrophosphate synthetase activity affects growth and riboflavin production in Ashbya gossypii.Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis.Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.[Genetics of neuropathies].A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.PRPS1 silencing reverses cisplatin resistance in human breast cancer cells.Metabolic gene products have evolved to interact with the cell wall integrity pathway in Saccharomyces cerevisiae.Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.Inborn errors of purine metabolism: clinical update and therapies.
P2860
Q21202844-C354B856-DC54-4942-83AF-85B91D4DDC51Q24305311-E75AA614-F737-4A82-8A6B-C617470C2218Q24651113-DDD66E9A-FA3E-4FB9-B95E-230F93C5D1E5Q27311514-75F8CD56-B87D-4301-BBEA-D4055D353AACQ27325281-376523ED-3583-483D-B9AC-AD5AE6D157BCQ27684206-9E8814CE-B8DD-4EE4-AC01-AB0013F8442EQ28080625-EFB41138-D0ED-406F-9AF8-43602E80A767Q30396867-4C82D182-455F-4662-8651-AD413C660ACBQ30397202-0F7E94A2-33FC-4027-BFB5-904846B12851Q30537559-A4011887-D3F0-44D0-BD7B-9AFA71B3204BQ33331894-65FB1566-82EC-4395-BADB-CFB234006D5EQ33686946-91866ABD-9967-4179-A319-E0F87DA2B69FQ34109408-D4AD1DCB-9EAC-4D65-B08E-CDC883D964C7Q34467709-8AF699D6-2F8A-496B-BD4D-ABA0C6CFAB6FQ34748475-50A84C60-684C-4AAB-A845-D30F75D80DFEQ34804220-C7824383-4C48-4427-BEC2-C5DBD28C1A98Q35105506-475ABFC6-B5C7-4178-8CEC-699BE393F363Q35819878-E1B2335E-65A3-4BBB-BF0C-2766C6A087E0Q35878664-25D8BBEA-0E04-4A46-AD2F-6F8D1E5C2A1BQ36493294-6AE8AEBE-A37C-40BF-AB6B-77C9D0884C53Q37341756-B10062A9-12BB-4B45-8D31-56824DFADA4BQ37522718-66155ADB-1B0A-4194-94DE-43910E1C3884Q37716117-E4C66770-AB24-4483-AB30-BF392C6F93C7Q37832364-63682ADD-90C0-4D1E-AD30-B2D98DFD2CB7Q37856366-05E3D009-F680-4307-9A9E-EFA8B7D5CCE5Q38094807-86C66CFE-AB14-4C43-B291-5A3D88811919Q38201741-1A3D560D-C05B-4B5D-8B2F-629E1E078D81Q38790818-722D60C2-70EC-4C3F-B0B4-04A265D6A059Q40042759-F901895E-05E4-4C8B-A3E6-501B8ACA35A1Q41818534-6144C45B-4C9C-4CBC-92CE-C78A1C6E889FQ42126832-64248237-7245-4C41-B1A0-FCE84B2CB85AQ43026577-DBC8B46F-B76F-4308-8D16-55707B197B1DQ44461854-F7389CEC-B99B-49B2-968E-E1ADC720262BQ47631088-F351DFA9-C04B-48EB-BA72-09AA73FCD168Q47887703-4D9B03E5-5539-4F13-BDC0-E97E9022C86CQ50904608-28575140-53F4-4405-BD7A-A324DAC9DA00Q51390566-39E2A892-F530-4DFF-9041-73852A3E8FDBQ51839584-08DAC3A0-ADDB-41EF-B9B8-9CBAF89A8552Q54220036-BC054B70-F7A2-4BCD-93A0-83CD10001156Q54341718-FC739596-30F4-4EB6-BE19-6FEF3B563B77
P2860
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@ast
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en-gb
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@nl
type
label
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@ast
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en-gb
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@nl
prefLabel
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@ast
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en-gb
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@nl
P2093
P2860
P356
P1476
Mutations in PRPS1, which enco ...... s and optic neuropathy (cmtx5)
@en
P2093
Byoung-Joon Kim
Byung-Ok Choi
Hee-Jin Kim
Jong-Won Kim
June-Hee Park
Karen M Krajewski
Kwang-Min Sohn
Michael E Shy
Miok Hwang
Soo-Youn Lee
P2860
P356
10.1086/519529
P407
P577
2007-09-01T00:00:00Z