| show for the first time statistically significant up regulation of iNOS in QDPR overexpressing astrocytes. Increased expression of iNOS associated with astrocyte pathology seen in many neurodegenerative disorders may have implications in autoimmune neurodegenerative disorders. | Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology.
Chandrashekaran S, Karthikeyan S, Balakrishnan A, Nair S, Satheesh Kumar MK, Vattathara JJ, Menon KN. | 09/1/2018 |
| Mutation of dihydropteridine reductase (QDPR) inhibited the regulation of TOR serine-threonine kinases (mTOR), suggesting that QDPR is a positive regulator of autophagy via suppressing mTOR signaling. | A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling.
Si Q, Sun S, Gu Y. | 05/5/2018 |
| The allele frequencies for the QDPR c.68G > A(0.3%) polymorphism is not a major cause of Parkinson's disease in the Maltese. | Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
Zahra C, Tabone C, Camilleri G, Felice AE, Farrugia R, Bezzina Wettinger S., Free PMC Article | 05/20/2017 |
| The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype. | QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Lu DY, Ye J, Han LS, Qiu WJ, Zhang HW, Zhou JD, Bao PZ, Zhang YF, Gu XF. | 06/6/2015 |
| JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery | Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R, Formoso L, Giacomello E, Jacquemond V, Sorrentino V., Free PMC Article | 02/25/2012 |
| Report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring for DHPR-deficient patients. | Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Concolino D, Muzzi G, Rapsomaniki M, Moricca MT, Pascale MG, Strisciuglio P. | 01/14/2012 |
| the electrostatic regulatory interaction between the SPRY2 F loop residues (that bind to imperatoxin A) and the ASI/basic residues of RyR1 does not influence bi-directional DHPR-RyR1 signaling during skeletal EC coupling | The elusive role of the SPRY2 domain in RyR1.
Tae H, Wei L, Willemse H, Mirza S, Gallant EM, Board PG, Dirksen RT, Casarotto MG, Dulhunty A., Free PMC Article | 07/16/2011 |
| This protein has been found differentially expressed in thalami from patients with schizophrenia. | Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Martins-de-Souza D, Maccarrone G, Wobrock T, Zerr I, Gormanns P, Reckow S, Falkai P, Schmitt A, Turck CW. | 07/13/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Examination of tetrahydrobiopterin pathway genes in autism.
Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL., Free PMC Article | 09/20/2009 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network. | 06/24/2009 |
| This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia. | Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
Martins-de-Souza D, Gattaz WF, Schmitt A, Novello JC, Marangoni S, Turck CW, Dias-Neto E., Free PMC Article | 05/29/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Association study of 182 candidate genes in anorexia nervosa.
Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB. Neurotransmission and bipolar disorder: a systematic family-based association study.
Shi J, Badner JA, Hattori E, Potash JB, Willour VL, McMahon FJ, Gershon ES, Liu C. | 05/11/2008 |
| less than 30 microM H2O2 increase DHPR activities, whereas levels greater than 30 microM H2O2 deactivate the enzyme based on the oxidation of Met146 and Met151 in the sequence, consequently leading to disruption of the NADH-dependent enzyme active site. | Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress.
Hasse S, Gibbons NC, Rokos H, Marles LK, Schallreuter KU. | 01/21/2010 |