Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease

Shoemaker, James D.; Elliott, William H.

doi:10.1016/0378-4347(91)80571-s

Cited by 130 publications

(61 citation statements)

References 7 publications

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“…6-Phosphogluconate (6-PG) was measured by gas chromatographymass spectrometry (GC/MS) (61). The standard used for comparison was 6-phosphogluconate potassium salt.…”

Section: Analysis Of Transformantsmentioning

confidence: 99%

Isocitrate Dehydrogenase Is Important for Nitrosative Stress Resistance in Cryptococcus neoformans, but Oxidative Stress Resistance Is Not Dependent on Glucose-6-Phosphate Dehydrogenase

et al. 2010

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The opportunistic intracellular fungal pathogen Cryptococcus neoformans depends on many antioxidant and denitrosylating proteins and pathways for virulence in the immunocompromised host. These include the glutathione and thioredoxin pathways, thiol peroxidase, cytochrome c peroxidase, and flavohemoglobin denitrosylase. All of these ultimately depend on NADPH for either catalytic activity or maintenance of a reduced, functional form. The need for NADPH during oxidative stress is well established in many systems, but a role in resistance to nitrosative stress has not been as well characterized. In this study we investigated the roles of two sources of NADPH, glucose-6-phosphate dehydrogenase (Zwf1) and NADP ؉ -dependent isocitrate dehydrogenase (Idp1), in production of NADPH and resistance to oxidative and nitrosative stress. Deletion of ZWF1 in C. neoformans did not result in an oxidative stress sensitivity phenotype or changes in the amount of NADPH produced during oxidative stress compared to those for the wild type. Deletion of IDP1 resulted in greater sensitivity to nitrosative stress than to oxidative stress. The amount of NADPH increased 2-fold over that in the wild type during nitrosative stress, and yet the idp1⌬ strain accumulated more mitochondrial damage than the wild type during nitrosative stress. This is the first report of the importance of Idp1 and NADPH for nitrosative stress resistance.

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“…6-Phosphogluconate (6-PG) was measured by gas chromatographymass spectrometry (GC/MS) (61). The standard used for comparison was 6-phosphogluconate potassium salt.…”

Section: Analysis Of Transformantsmentioning

confidence: 99%

Isocitrate Dehydrogenase Is Important for Nitrosative Stress Resistance in Cryptococcus neoformans, but Oxidative Stress Resistance Is Not Dependent on Glucose-6-Phosphate Dehydrogenase

et al. 2010

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“…The accurate GC and GC-MS analyses, however, require one or more appropriate derivatization procedures to block all active protons present in AAs (17). For this purpose, alkylsilylation (18)(19)(20)(21)(22)(23) and alkoxycarbonyl (AOC) esterification (24-27) methods have been widely used. The AOC reaction was frequently conducted in aqueous solution with subsequent esterification (28,29) or alkylsilylation (30)(31)(32)(33)(34)(35).…”

Section: Introductionmentioning

confidence: 99%

Altered free amino acid levels in brain cortex tissues of mice with Alzheimer's disease as their N(O,S)-ethoxycarbonyl/tert-butyldimethylsilyl derivatives

Paik

Cho²,

Mook‐Jung³

et al. 2008

BMB Reports

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“…The diagnosis of MKD was supported not only by the fact that the two mutations detected have a well known role in the disease, but also by a biochemical analysis that demonstrated the accumulation of mevalonic acid [5,496 µg/ml; the normal range of mevalonic acid levels is 34-323 µg/ml (internal laboratory reference)] in urine during febrile crisis, as a proof of MK enzyme deficiency (10). In the case of the present study, the diagnosis of MKD adequately explained the proband's condition, apart from the presence of neurogenic diabetes insipidus (Table I).…”

Section: Resultsmentioning

confidence: 99%

Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

Bianco

Faletra

Vozzi

et al. 2015

Molecular Medicine Reports

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Abstract. Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to identify incidental findings. In the present study, whole exome sequencing analysis was performed for the molecular diagnosis and correct genotype/phenotype correlation between parents and a patient presenting with an atypical phenotype. In addition, mevalonic acid quantification and frequency analysis of detected variants in public databases and X-chromosome inactivation (XCI) studies on the patient's mother were performed. V377I as well as the S135L mutations were identified on the mevalonate kinase deficiency gene and the levels of mevalonic acid in the patient were 5,496 µg/ml. A D59G variation, reported in ESP6500 in two healthy individuals, was found on the Martin Probst syndrome gene (RAB40AL). Based on XCI studies on the patient's mother, it is likely that RAB40AL escapes XCI, while still remaining balanced. In conclusion, the results of the present study indicated that the Martin Probst syndrome is an X-linked condition, which is probably not caused by RAB40AL mutations. Although NGS is a powerful tool to identify pathogenic mutations, the analysis of genetic data requires expert critical revision of all detected variants.

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Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease

Cited by 130 publications

References 7 publications

Isocitrate Dehydrogenase Is Important for Nitrosative Stress Resistance in Cryptococcus neoformans, but Oxidative Stress Resistance Is Not Dependent on Glucose-6-Phosphate Dehydrogenase

Isocitrate Dehydrogenase Is Important for Nitrosative Stress Resistance in Cryptococcus neoformans, but Oxidative Stress Resistance Is Not Dependent on Glucose-6-Phosphate Dehydrogenase

Altered free amino acid levels in brain cortex tissues of mice with Alzheimer's disease as their N(O,S)-ethoxycarbonyl/tert-butyldimethylsilyl derivatives

Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

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