Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Item
http://www.wikidata.org/entity/Q28255463
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaGlutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.Evolution of proline biosynthesis: enzymology, bioinformatics, genetics, and transcriptional regulation.Amino acid synthesis deficiencies.Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.
P2860

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Item
http://www.wikidata.org/entity/Q28255463
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@ast
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@en
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@nl
type
label
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@ast
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@en
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@nl
prefLabel
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@ast
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@en
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Understanding pyrroline-5-carb ...... nd novel therapy with arginine
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698