Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
about
sameAs
Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate lyase deficiencyFunctional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaIdentifying pathogenicity of human variants via paralog-based yeast complementation.Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Requirement of argininosuccinate lyase for systemic nitric oxide production.Optimizing therapy for argininosuccinic aciduria.An extended set of yeast-based functional assays accurately identifies human disease mutations.Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.Fumaric acid production by Torulopsis glabrata: engineering the urea cycle and the purine nucleotide cycle.
P2860
Q21202856-3D9E1B08-422A-40B1-8C31-584E334BC1A4Q24601202-2450F3A4-9116-400B-B12E-C336214D095CQ28277356-1AE3D308-E7CC-4FC0-983F-663B3353E3E4Q33783781-39B5CE4B-2A4C-466B-8836-553D104B53ADQ34775132-B0342669-702C-44A5-8993-84C8D6E00EA0Q35602263-485223F4-A2AA-4BDF-AB90-25E99AEBF09EQ35948795-1EE3182C-B254-4C94-A643-D05AD1DEED7CQ36240791-129866FE-3005-4C3B-837C-B43A86D02549Q36893770-718B47C0-0004-4E82-88B5-A233783C027FQ37348927-05630BAE-9EC3-4302-AC20-F51C20D05385Q37698410-64F76197-BD68-426A-8788-17A4F3D714EBQ40295242-A7BCE7D4-44C0-4CE0-9F14-DF18F09A9EE4Q41207020-405F72EA-36C8-41D1-B000-FCE97A05B062Q41885632-EC18D142-E92F-4ED9-B424-FCBFDA232A0AQ47342038-51389DAC-2BEB-469B-968B-DFE7C852A571Q48235466-E62F8753-460A-446B-95F5-460ED248AE9BQ51066389-9F1F77A3-C79A-4307-85F1-FD98F5D44480
P2860
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Functional complementation in ...... ninosuccinate lyase mutations.
@en
type
label
Functional complementation in ...... ninosuccinate lyase mutations.
@en
prefLabel
Functional complementation in ...... ninosuccinate lyase mutations.
@en
P2093
P2860
P356
P1476
Functional complementation in ...... ninosuccinate lyase mutations.
@en
P2093
Alberto Burlina
Alberto Casarin
Eva Trevisson
Geppo Sartori
Giuseppe Basso
Leonardo Salviati
Luca Cesaro
Mara Doimo
Placido Navas
Vanessa Pertegato
P2860
P304
28926-28934
P356
10.1074/JBC.M109.050195
P407
P577
2009-08-24T00:00:00Z