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Page 1
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Namavar Y, Duineveld DJ, Both GIA, Fiksinski AM, Vorstman JAS, Verhoeven-Duif NM, Zinkstok JR. Namavar Y, et al. Am J Med Genet B Neuropsychiatr Genet. 2021 Jul;186(5):289-317. doi: 10.1002/ajmg.b.32869. Epub 2021 Jul 24. Am J Med Genet B Neuropsychiatr Genet. 2021. PMID: 34302426 Review.
Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. ...This suggests that genomic and environmental factors are likely to contribute to clinical outcomes. More studies are needed to clarify whether hyperprolinemia i …
Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. ...This suggests that genomic …
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Plecko B. Plecko B. Handb Clin Neurol. 2013;113:1811-7. doi: 10.1016/B978-0-444-59565-2.00050-2. Handb Clin Neurol. 2013. PMID: 23622403 Review.
In PNPO deficiency, samples have to be collected prior to treatment, while PDE, hyperprolinemia type II and congenital HPP can be diagnosed while on vitamin B6 supplementation. ...
In PNPO deficiency, samples have to be collected prior to treatment, while PDE, hyperprolinemia type II and congenital HPP can be dia …
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.
Clelland CL, Read LL, Baraldi AN, Bart CP, Pappas CA, Panek LJ, Nadrich RH, Clelland JD. Clelland CL, et al. Schizophr Res. 2011 Sep;131(1-3):139-45. doi: 10.1016/j.schres.2011.05.006. Epub 2011 Jun 8. Schizophr Res. 2011. PMID: 21645996 Free PMC article.
The objectives of this study were to investigate whether hyperprolinemia is associated with schizophrenia, and to measure the relationship between plasma proline, and clinical features and symptoms of schizophrenia. We performed a cross-sectional case-control study, compar …
The objectives of this study were to investigate whether hyperprolinemia is associated with schizophrenia, and to measure the relatio …
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association.
Clelland JD, Read LL, Drouet V, Kaon A, Kelly A, Duff KE, Nadrich RH, Rajparia A, Clelland CL. Clelland JD, et al. Schizophr Res. 2014 Jun;156(1):15-22. doi: 10.1016/j.schres.2014.03.017. Epub 2014 Apr 29. Schizophr Res. 2014. PMID: 24787057 Free PMC article.
PRODH maps to chromosome 22q11, a region conferring the highest known genetic risk of schizophrenia, and encodes proline oxidase, which catalyzes proline catabolism. l-Proline is a neuromodulator at glutamatergic synapses, and peripheral hyperprolinemia has been associated …
PRODH maps to chromosome 22q11, a region conferring the highest known genetic risk of schizophrenia, and encodes proline oxidase, which cata …
Hyperprolinemia is a risk factor for schizoaffective disorder.
Jacquet H, Demily C, Houy E, Hecketsweiler B, Bou J, Raux G, Lerond J, Allio G, Haouzir S, Tillaux A, Bellegou C, Fouldrin G, Delamillieure P, Ménard JF, Dollfus S, D'Amato T, Petit M, Thibaut F, Frébourg T, Campion D. Jacquet H, et al. Mol Psychiatry. 2005 May;10(5):479-85. doi: 10.1038/sj.mp.4001597. Mol Psychiatry. 2005. PMID: 15494707 Clinical Trial.
In a previous report, we identified several heterozygous alterations, including a complete deletion, of the proline dehydrogenase (PRODH) gene, which were associated with moderate hyperprolinemia in a subset of DSM III schizophrenic patients. Our objective was (i) to deter …
In a previous report, we identified several heterozygous alterations, including a complete deletion, of the proline dehydrogenase (PRODH) ge …
Neurotoxicity and metabolism of the catecholamine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenylglycolaldehyde: the role of aldehyde dehydrogenase.
Marchitti SA, Deitrich RA, Vasiliou V. Marchitti SA, et al. Pharmacol Rev. 2007 Jun;59(2):125-50. doi: 10.1124/pr.59.2.1. Epub 2007 Mar 22. Pharmacol Rev. 2007. PMID: 17379813 Review.
Mutations in these genes and subsequent inborn errors in aldehyde metabolism are the molecular basis of several diseases, including Sjogren-Larsson syndrome, type II hyperprolinemia, gamma-hydroxybutyric aciduria, and pyridoxine-dependent seizures, most of which are charac …
Mutations in these genes and subsequent inborn errors in aldehyde metabolism are the molecular basis of several diseases, including Sjogren- …
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Vasiliou V, Pappa A. Vasiliou V, et al. Pharmacology. 2000 Sep;61(3):192-8. doi: 10.1159/000028400. Pharmacology. 2000. PMID: 10971205 Review.
Mutations in ALDH3A2 cause loss of enzymatic activity and are the molecular basis of Sjogren-Larsson syndrome. Mutations in ALDH4A1 are associated with type II hyperprolinemia. Deficiency in ALDH5A1 causes 4-hydroxybutyric aciduria. ...
Mutations in ALDH3A2 cause loss of enzymatic activity and are the molecular basis of Sjogren-Larsson syndrome. Mutations in ALDH4A1 are asso …
Functional consequences of PRODH missense mutations.
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Bender HU, et al. Am J Hum Genet. 2005 Mar;76(3):409-20. doi: 10.1086/428142. Epub 2005 Jan 20. Am J Hum Genet. 2005. PMID: 15662599 Free PMC article.
At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies. ...Although there is limited information on plasma proline levels in individuals of known PRODH genot …
At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which a …
Sensing of hyperprolinemia biomarker and its recognition in biological sample through "turn-on" event by Zn-based metal-organic framework.
Kanzariya DB, Chaudhary MY, Pal TK. Kanzariya DB, et al. Spectrochim Acta A Mol Biomol Spectrosc. 2024 Apr 5;310:123882. doi: 10.1016/j.saa.2024.123882. Epub 2024 Jan 12. Spectrochim Acta A Mol Biomol Spectrosc. 2024. PMID: 38241930
A hydrogen bonded ability metal organic framework (MOF, 1(Zn)) is used for the ultra-sensitive "turn-on" detection of hyperprolinemia biomarker with ultrafast (within 5 s) colorimetric response making the first MOF based hyperprolinemia biomarker sensor. ...Conseque …
A hydrogen bonded ability metal organic framework (MOF, 1(Zn)) is used for the ultra-sensitive "turn-on" detection of hyperprolinemia …
25 results