Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
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Mutations in PYCR1 cause cutis laxa with progeroid featuresNon-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamilyAldehyde dehydrogenases in cellular responses to oxidative/electrophilic stressRecurrent 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 mechanismUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineHuman Delta1-pyrroline-5-carboxylate synthase: function and regulationLeigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic diseaseProline biosynthesis is required for endoplasmic reticulum stress tolerance in Saccharomyces cerevisiae.Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact.Role of human aldehyde dehydrogenases in endobiotic and xenobiotic metabolism.Substrate channeling in proline metabolism.Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclatureAlteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaOrnithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.Bridging epigenetics and metabolism: role of non-essential amino acidsPYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.Metabolic cutis laxa syndromes.Evolution of proline biosynthesis: enzymology, bioinformatics, genetics, and transcriptional regulation.Amino acid synthesis deficiencies.A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.Genetic diagnosis of Mendelian disorders via RNA sequencing.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.m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.A risk factor for chronic mild hyperammonaemia.Lysosomal amino acid transporter LYAAT-1 in the rat central nervous system: an in situ hybridization and immunohistochemical study.A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency.Dissection of Escherichia coli glutamate 5-kinase: functional impact of the deletion of the PUA domain.Genome-wide association mapping of heritable temperament variation in the Tennessee Walking Horse.Neurometabolic disorders: Five new things.Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
P2860
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P2860
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@ast
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en-gb
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@nl
type
label
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@ast
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en-gb
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@nl
prefLabel
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@ast
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en-gb
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@nl
P2093
P356
P1476
Hyperammonemia with reduced or ...... rroline-5-carboxylate synthase
@en
P2093
J M Saudubray
S Almashanu
P304
P356
10.1093/HMG/9.19.2853
P407
P577
2000-11-01T00:00:00Z