The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

abstract：:The effect of factors released from N2A neuroblastoma cells on the expression of myelin protein genes in glioma C6 cells, i.e., proteolipid protein (PLP) and myelin-associated glycoprotein (MAG), was studied. Both cells lines were propagated in serum-free DMEM-F10 (1:1) medium. The addition of 50% N2A conditioned medi...

journal_title：Metabolic brain disease

authors： Kanoh M,Wiggins RC,Konat G

更新日期：1992-09-01 00:00:00

abstract：:D-galactose (GAL) causes aging-related changes and oxidative stress in the organism. We investigated the effect of whole fresh blueberry (BB) (Vaccinium corymbosum L.) treatment on oxidative stress in age-related brain damage model. Rats received GAL (300 mg/kg; s.c.; 5 days per week) alone or together with 5 % (BB1) ...

journal_title：Metabolic brain disease

authors： Çoban J,Doğan-Ekici I,Aydın AF,Betül-Kalaz E,Doğru-Abbasoğlu S,Uysal M

更新日期：2015-06-01 00:00:00

abstract：:The cholesterol-raising properties of the apolipoprotein E (APOE) epsilon-4 (ε-4) allele has been validated in the South African population. Mounting evidence supports the added value of APOE genotyping for the evaluation of cardiovascular risk in dyslipidemic patients beyond its established role in the diagnosis of l...

journal_title：Metabolic brain disease

authors： Lückhoff HK,Kidd M,van Rensburg SJ,van Velden DP,Kotze MJ

更新日期：2016-02-01 00:00:00

abstract：:D-Galactose (D-gal) chronic administration via intraperitoneal and subcutaneous routes has been used as a model of aging and Alzheimer disease in rodents. Intraperitoneal and subcutaneous administration of D-gal causes memory impairments, a reduction in the neurogenesis of adult mice, an increase in the levels of the ...

journal_title：Metabolic brain disease

authors： Budni J,Garcez ML,Mina F,Bellettini-Santos T,da Silva S,Luz APD,Schiavo GL,Batista-Silva H,Scaini G,Streck EL,Quevedo J

更新日期：2017-06-01 00:00:00

abstract：:A study evaluating zinc supplementation in patients with Alzheimer's disease yielded variable zinc plasma levels in spite of positive cognitive and physiological results. In an attempt to raise and sustain plasma zinc levels, a single patient was given 15 mg zinc/day with various combinations of vitamins. A sustained ...

journal_title：Metabolic brain disease

authors： Potocnik FC,van Rensburg SJ,Hon D,Emsley RA,Moodie IM,Erasmus RT

更新日期：2006-09-01 00:00:00

abstract：:Glutamate neurotoxicity was studied in primary neuronal cultures prepared from rat cerebral cortex and hippocampal CA1 sector. Neurons were cultivated with 5% native horse serum and then exposed to 0.1 or 1.0 mM glutamate for 5 min. Subsequently, neurons were allowed to recover for 24 hours either in the presence or i...

journal_title：Metabolic brain disease

authors： Uto A,Dux E,Hossmann KA

更新日期：1994-12-01 00:00:00

abstract：:Hereditary tyrosinemia type I (HT1) is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, the template for the final enzyme in the tyrosine catabolism pathway. If left untreated this deficiency of functional FAH leads to a buildup of toxic metabolites that can cause liver disease, kidney dysfunction ...

journal_title：Metabolic brain disease

authors： Moore ME,Koenig AE,Hillgartner MA,Otap CC,Barnby E,MacGregor GG

更新日期：2017-12-01 00:00:00

abstract：:Increasing evidence indicates that excessive drug consumption is sufficient for the transition from recreational and controlled drug use to uncontrolled use and addiction. However, the underlying mechanisms are debated. Some neurobehavioral and neuroimaging evidence indicates that dorsolateral striatum (dlStr)-depende...

journal_title：Metabolic brain disease

authors： Shi JJ,Cao DN,Liu HF,Wang ZY,Lu GY,Wu N,Zhou WH,Li J

更新日期：2019-08-01 00:00:00

abstract：:The effects of chronic and repeated radiofrequency electromagnetic radiation (RFEMR) exposure on spatial cognition and hippocampal architecture were investigated in prepubescent rats. Four weeks old male Wistar rats were exposed to RF-EMR (900 MHz; SAR-1.15 W/kg with peak power density of 146.60 μW/cm(2)) for 1 h/day,...

journal_title：Metabolic brain disease

authors： Narayanan SN,Kumar RS,Karun KM,Nayak SB,Bhat PG

更新日期：2015-10-01 00:00:00

abstract：:Studies have shown that oxidative stress is involved in the pathophysiology of bipolar disorder (BD). It is suggested that omega-3 (ω3) fatty acids are fundamental to maintaining the functional integrity of the central nervous system. The animal model used in this study displayed fenproporex-induced hyperactivity, a s...

journal_title：Metabolic brain disease

authors： Gomes LM,Carvalho-Silva M,Teixeira LJ,Rebelo J,Mota IT,Bilesimo R,Michels M,Arent CO,Mariot E,Dal-Pizzol F,Scaini G,Quevedo J,Streck EL

更新日期：2017-04-01 00:00:00

abstract：:To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation(s) that may be responsible for the disease phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient's...

journal_title：Metabolic brain disease

authors： Moseilhy A,Hassan MM,El Abd HS,Mohammad SA,El Bekay R,Abdel-Motal UM,Ouhtit A,Zaki OK,Zayed H

更新日期：2017-02-01 00:00:00

abstract：:At the present time alcoholism is recognized as a metabolic disease exhibiting the clinical features of craving for alcohol, loss of control over drinking, tolerance and physical dependence on alcohol, while both epidemiological and experimental studies have demonstrated that genetic factors may be important in determ...

journal_title：Metabolic brain disease

authors： Gianoulakis C,de Waele JP

更新日期：1994-06-01 00:00:00

abstract：:Sevoflurane, one of the most commonly used volatile anesthetics in clinical treatment, has been shown to induce a widespread increase in brain apoptosis. However, the underlying mechanism is still unknown. Sestrin 2 has been recently shown to regulate intracellular reactive oxygen species (ROS) levels and play a cruci...

journal_title：Metabolic brain disease

authors： Yi W,Zhang Y,Guo Y,Li D,Li X

更新日期：2015-10-01 00:00:00

abstract：:This study was performed to analyze the mutational spectrum of the phenylalanine hydroxylase (PAH) gene in phenylketonuria (PKU) patients in Northwest China, to identify mutational hot spots, and to determine the correlation between variants and clinical phenotypes of PKU. A large cohort of 475 PKU families in Northwe...

journal_title：Metabolic brain disease

authors： Yan Y,Zhang C,Jin X,Zhang Q,Zheng L,Feng X,Hao S,Gao H,Ma X

更新日期：2019-06-01 00:00:00

abstract：:Because of the importance of cholesterol metabolism in the physiopathogenesis of dementia, and knowing the function of ATP-binding cassette A1 transporter (ABCA1) as a cholesterol flow pump at the cellular and cerebral level, it has been noted that the ABCA1 gene may be a good candidate for disease study. In order to ...

journal_title：Metabolic brain disease

authors： Teresa JC,Fernado C,Nancy MR,Gilberto VA,Alberto CR,Roberto RR

更新日期：2020-08-01 00:00:00

abstract：:Homocystinuria is a metabolic disorder caused by deficiency of cystathione beta-synthase activity leading to tissue accumulation of homocysteine (Hcy); affected patients present neurological dysfunction. Considering that Hcy induces free radical formation and that memory is impaired by oxidative stress, in the present...

journal_title：Metabolic brain disease

authors： Reis EA,Zugno AI,Franzon R,Tagliari B,Matté C,Lammers ML,Netto CA,Wyse AT

更新日期：2002-09-01 00:00:00

abstract：:Transient bilateral common carotid artery occlusion (tBCCAO), followed by reperfusion, is a model of transient global hypoperfusion. In the present study we aimed to investigate the probable effects of Vanillic acid (VA) on some physiological parameters including cerebral hyperemia, blood-brain barrier (BBB) disruptio...

journal_title：Metabolic brain disease

authors： Khoshnam SE,Farbood Y,Fathi Moghaddam H,Sarkaki A,Badavi M,Khorsandi L

更新日期：2018-06-01 00:00:00

abstract：:Parkinson's disease is a neurodegenerative disease whose hallmark pathological features include a selective loss of dopaminergic neurons in the midbrain. Ciclooxygenase-2 activity induction and oxidative stress have been implicated in the aetiology of Parkinson's disease and in the 1-methyl-4-phenyl-1,2,3,6-tetrahydro...

journal_title：Metabolic brain disease

authors： Ortiz GG,Pacheco-Moisés FP,Gómez-Rodríguez VM,González-Renovato ED,Torres-Sánchez ED,Ramírez-Anguiano AC

更新日期：2013-12-01 00:00:00

abstract：:Increased benzodiazepine (BZ) receptor density has been reported in brains of rabbits with hepatic encephalopathy (HE) due to galactosamine (GalN)-induced fulminant hepatic failure (FHF). These data were generated using detergent-Triton X-100-treated neural membranes. While performing further studies it was noted that...

journal_title：Metabolic brain disease

authors： Rössle M,Mullen KD,Jones EA

更新日期：1989-09-01 00:00:00

abstract：:Chronic exposure to stress amplifies locomotor deficits and exacerbates dopamine neuron loss in an animal model for Parkinson's disease. The release of neurotrophic factors such as glial cell-line derived neurotrophic factor (GDNF) and neurotrophin-3 (NT-3) following neuronal injury attenuates exacerbated degeneration...

journal_title：Metabolic brain disease

authors： Ngema PN,Mabandla MV

更新日期：2017-08-01 00:00:00

abstract：:The enzyme nitric oxide synthase has been associated with suicide behavior. NOS1, NOS2 and NOS3 genes are implicated in the production of nitric oxide. However, the association between NOS genes and suicide behavior has not yet been established. To assess the association of Nitric Oxide Synthase (NOS) genes and suicid...

journal_title：Metabolic brain disease

authors： González-Castro TB,Genis-Mendoza AD,Tovilla-Zárate CA,Juárez-Rojop IE,López-Narvaez ML,Pérez-Hernández N,Rodríguez-Pérez JM,Martínez-Magaña JJ

更新日期：2019-08-01 00:00:00

abstract：:Hyperammonemia is necessary for development of the cerebral complications to liver disease including hepatic encephalopathy and cerebral edema but the mechanisms are unclear. Ammonia is taken up by the brain in proportion to its arterial concentration. The flux into the brain is most likely by both diffusion of NH3 an...

journal_title：Metabolic brain disease

authors： Ott P,Vilstrup H

更新日期：2014-12-01 00:00:00

abstract：:Hepatic encephalopathy is a common complication of hepatic cirrhosis. The clinical diagnosis is based on two concurrent types of symptoms: impaired mental status and impaired neuromotor function. Impaired mental status is characterized by deterioration in mental status with psychomotor dysfunction, impaired memory, an...

journal_title：Metabolic brain disease

authors： Malaguarnera M

更新日期：2013-06-01 00:00:00

abstract：:To investigate the short-term brain activity changes in cirrhotic patients with Liver transplantation (LT) using resting-state functional MRI (fMRI) with regional homogeneity (ReHo) method. Twenty-six cirrhotic patients as transplant candidates and 26 healthy controls were included in this study. The assessment was re...

journal_title：Metabolic brain disease

authors： Cheng Y,Huang L,Zhang X,Zhong J,Ji Q,Xie S,Chen L,Zuo P,Zhang LJ,Shen W

更新日期：2015-08-01 00:00:00

abstract：:Long-term or excessive application of morphine leads to tolerance and addiction, which hindered its conventional applications as a drug. Although tremendous progress has been made on the mechanisms of morphine, crucial evidence elaborating the neurobiological basis of tolerance and dependence is still lacking. To furt...

journal_title：Metabolic brain disease

authors： Liu R,Cheng J,Yang J,Ding X,Yang S,Dong F,Guo N,Liu S

更新日期：2015-06-01 00:00:00

abstract：:We investigated the effects of age and nitric oxide synthase inhibitor, NG-nitro-L-arginine methyl ester (L-NAME), on protein kinase C (PKC), adenylyl cyclase, calcium/calmodulin-independent cyclic-AMP phosphodiesterase (cyclic-AMP PDE) and voltage-dependent L-type calcium channels in Fischer rat brain using autoradio...

journal_title：Metabolic brain disease

authors： Araki T,Kato H,Shuto K,Fujiwara T,Itoyama Y

更新日期：1997-03-01 00:00:00

abstract：:Pipecolic acid (PA) levels are increased in severe metabolic disorders of the central nervous system such as Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and hyperlysinemia. The affected individuals present progressive neurological dysfunction, hypotonia and growth retardation. The mecha...

journal_title：Metabolic brain disease

authors： Dalazen GR,Terra M,Jacques CE,Coelho JG,Freitas R,Mazzola PN,Dutra-Filho CS

更新日期：2014-03-01 00:00:00

abstract：:Ischemic postconditioning (IPostC) has been reported to have neuroprotection against ischemic diseases, and one cycle of IPostC induces neurogenesis when treated nearby. To expanding these effects, we explored the effects of repetitively remote IPostC (NRIPostC) on neurogenesis in the subgranular zone (SGZ) and subent...

journal_title：Metabolic brain disease

authors： Huang D,Liu H,Qu Y,Wang P

更新日期：2017-12-01 00:00:00

abstract：:gamma-Hydroxybutyric acid (GHB) is a naturally occurring compound in the central nervous system (CNS) whose tissue concentration are highly increased in the neurometabolic-inherited deficiency of succinic semialdehyde dehydrogenase (SSADH) activity or due to intoxication. SSADH deficiency is biochemically characterize...

journal_title：Metabolic brain disease

authors： Sgaravatti AM,Magnusson AS,Oliveira AS,Mescka CP,Zanin F,Sgarbi MB,Pederzolli CD,Wyse AT,Wannmacher CM,Wajner M,Dutra-Filho CS

更新日期：2009-06-01 00:00:00

abstract：:First-episode psychosis (FEP) patients are more sensitive to neuroleptic side-effects such as hyperprolactinemia. We examined the prolactin levels of previously minimally treated patients with first episode schizophrenia over their first year of treatment with flupenthixol decanoate and the relationship between prolac...

journal_title：Metabolic brain disease

authors： Retief M,Chiliza B,Phahladira L,Emsley R,Asmal L

更新日期：2019-12-01 00:00:00