Abstract:
:Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepatic cholestasis caused by citrin deficiency at neonatal period. Moreover citrin and its isoform aralar were found to be aspartate glutamate carrier. From the viewpoint of the metabolic functions of citrin as aspartate glutamate carrier in urea synthesis and NADH shuttle, symptoms of CTLN2 and neonatal intrahepatic cholestasis caused by citrin deficiency are analyzed.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Saheki T,Kobayashi K,Iijima M,Nishi I,Yasuda T,Yamaguchi N,Gao HZ,Jalil MA,Begum L,Li MXdoi
10.1023/a:1021961919148subject
Has Abstractpub_date
2002-12-01 00:00:00pages
335-46issue
4eissn
0885-7490issn
1573-7365journal_volume
17pub_type
杂志文章,评审abstract::Minimal hepatic encephalopathy (MHE) is the earliest form of hepatic encephalopathy (HE) and affects up to 80 % of patients with liver cirrhosis. By definition, MHE is characterized by psychomotor slowing and subtle cognitive deficits, but obvious clinical manifestations are lacking. Given its covert nature, MHE is o...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9848-4
更新日期:2016-10-01 00:00:00
abstract::Isolated Methylmalonic acidemia/aciduria (MMA) is a group of inborn errors of metabolism disease which is caused by defect in methylmalonyl-CoA mutase (MCM) enzyme. The enzyme has a key function in the catabolism of branched chain amino acids (BCAA, isoleucine, and valine), methionine, and threonine. MCM is encoded by...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0277-4
更新日期:2018-10-01 00:00:00
abstract::Alzheimer's Disease (AD) is a complex neurodegenerative disorder often associated with aging and characterized by several critical molecular changes that take place in the brain. Among the molecular hallmarks of AD, increased levels of amyloid β-peptide (Aβ) and the subsequent Aβ-derived damage are the most well-studi...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9527-2
更新日期:2014-09-01 00:00:00
abstract::Thiamine triphosphate (ThTP) was discovered over 60 years ago and it was long thought to be a specifically neuroactive compound. Its presence in most cell types, from bacteria to mammals, would suggest a more general role but this remains undefined. In contrast to thiamine diphosphate (ThDP), ThTP is not a coenzyme. I...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9509-4
更新日期:2014-12-01 00:00:00
abstract::Artificial sweeteners are mainly used as substitutes for sucrose derivates. In this study, we analyzed if the chronic consumption of aspartame or acesulfame potassium at an early age, produces histological alterations, astrogliosis and decreased neuronal viability, in hippocampus, prefrontal cortex, amygdala and hypot...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0310-7
更新日期:2018-12-01 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
pub_type: 杂志文章
doi:10.1007/s11011-017-0071-8
更新日期:2017-12-01 00:00:00
abstract::Overwhelming evidence suggests that microglia play an important role in ischemic injury and they polarize into two different phenotypes with distinct functions after ischemic stroke. We performed the present study to investigate whether L-3-n butylphthalide (NBP) has an effect on microglial polarization. Mice were sub...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0307-2
更新日期:2018-12-01 00:00:00
abstract::Autism (MIM 209850) is a heterogeneous neurodevelopmental disease that manifests within the first 3 years of life. Numerous articles reported that dysfunctional folate-methionine pathway enzymes may play an important role in the pathophysiology of autism. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzym...
journal_title:Metabolic brain disease
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s11011-016-9815-0
更新日期:2016-08-01 00:00:00
abstract::The associations of levels of apolipoprotein A1 (ApoA1) and apolipoprotein B and ApoB/A1 ratio and risk of a first stroke have not been reliably documented. We performed a meta-analysis to summarize the relationships and confirmed them in a case-control study. We identified relevant publications in PubMed and Embase d...
journal_title:Metabolic brain disease
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s11011-015-9732-7
更新日期:2015-12-01 00:00:00
abstract::Today, neurological disorders such as epilepsy, depression, tardive dyskinesia, and stress, and neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, dementia, and Huntington's disease affect millions of people all over the world. Existing pharmacological interventions do not meet the desired t...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-019-00400-9
更新日期:2019-08-01 00:00:00
abstract::To investigate the pattern of brain volume changes in patients with end-stage renal disease (ESRD) using voxel-based morphometry (VBM) and correlation with clinical and neuropsychological (NP) tests. Fifty seven ESRD patients with no anatomical abnormalities in conventional magnetic resonance imaging [24 patients with...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9438-7
更新日期:2013-12-01 00:00:00
abstract::Allicin, one of the main biologically active compounds derived from garlic, was previously reported to possess multiple pharmacological activities. Whether allicin protected against chronic social defeat stress (CSDS) induced depressive-like behaviors remained unknown. Thus, our present study for the first time invest...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0342-z
更新日期:2019-02-01 00:00:00
abstract::The central nervous system is one of the most vulnerable organs affected by mercury toxicity. Both acute and chronic exposure to mercury is also known to cause a variety of neurological or psychiatric disorders. Here, the neuroprotective effect of berberine (BN; 100 mg/kg bwt) on mercuric chloride (HgCl2; 0.4 mg/kg bw...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9652-6
更新日期:2015-08-01 00:00:00
abstract::Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system which causes chronic demyelination. Hydroxychloroquine (HCQ) possess immunosuppressive and anti-inflammatory properties. The aim of this study was to investigate the effect of HCQ on miR-219 and miR-155-3p expression changes in MS-...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-020-00609-z
更新日期:2020-12-01 00:00:00
abstract::Prenatal stress has been associated with increased vulnerability to psychiatric disturbances including schizophrenia, depression, attention-deficit hyperactivity disorder and autism. Elevated maternal circulating stress hormones alter development of neural circuits in the fetal brain and cause long-term changes in beh...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-009-9161-6
更新日期:2009-12-01 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
pub_type: 杂志文章
doi:10.1007/s11011-014-9643-z
更新日期:2015-06-01 00:00:00
abstract::Multiple sclerosis (MS) is a demyelinating and degenerative disease of the central nervous system (CNS) with a strong inflammatory component that affects more than 2 million people worldwide (and at least 400,000 in the United States). In MS, macrophage migration inhibitory factor (MIF) and D-dopachrome tautomerase (D...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0331-2
更新日期:2019-02-01 00:00:00
abstract::Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share many genetic risk factors. This study aimed to investigate the association of phosphoinositide-3-kinase regulatory subunit1 (PIK3R1) gene rs3756668 and rs3730089 polymorphisms with SCZ and BD risks and determine the expression le...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-020-00552-z
更新日期:2020-06-01 00:00:00
abstract::The original article contains mistake. The authors want to add Wenhui Pei as first co-author and Fang Fang as co-corresponding author. ...
journal_title:Metabolic brain disease
pub_type: 已发布勘误
doi:10.1007/s11011-020-00612-4
更新日期:2020-12-01 00:00:00
abstract::Undernourished suckling rats were administered, by gastric intubation, either soy oil (which is rich in both linoleic and linolenic acids) or safflower oil (which is rich in linoleic acid but deficient in linolenic acid) to determine (1) if dietary supplementation would offset the hypomyelination characteristic of the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF00999385
更新日期:1986-06-01 00:00:00
abstract::MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hyp...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0074-5
更新日期:2017-10-01 00:00:00
abstract::Today, due to technology development and aversive events of daily life, Human exposure to both radiofrequency and stress is unavoidable. This study investigated the co-exposure to repeated restraint stress and WiFi signal on cognitive function and oxidative stress in brain of male rats. Animals were divided into four ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0016-2
更新日期:2017-10-01 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
pub_type: 杂志文章
doi:10.1007/s11011-013-9416-0
更新日期:2013-12-01 00:00:00
abstract::The experimental model of central pontine myelinolysis--chronic (4-day) hyponatremia induced by daily injections of hypotonic dextrose solutions and vasopressin followed by rapid correction with saline--was used in young fasted and thirsted mice. In normal controls chronic fasting and thirsting lowered plasma and brai...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF00999694
更新日期:1987-12-01 00:00:00
abstract::Maternal separation in non-human primates has been proposed as a model of early adversity. The symptoms of separation anxiety were studied in vervet monkeys, during the weaning period, when psychotropic medications were administered. The control group received a normal diet and treatment groups received citalopram, re...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-006-9011-8
更新日期:2006-09-01 00:00:00
abstract::Microglia--the macrophage equivalent of the CNS--safeguards and supports neuronal functions. Threats to the CNS homeostasis can trigger a rapid transformation of these cells from a normally "resting" into alerted and "activated" states. Microglia primarily serves the tissue defence and protection when participating in...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/b:mebr.0000043984.73063.d8
更新日期:2004-12-01 00:00:00
abstract::As studies of brain metabolism grow in complexity, investigators turn increasingly to nuclear magnetic resonance spectroscopy combined with 13C isotopic labeling. The unique ability to detect labeling non-destructively in specific carbon positions of individual compounds has opened the way to investigate brain metabol...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF02029492
更新日期:1996-12-01 00:00:00
abstract::Chronic neuroinflammation is strongly associated with AD and altered peripheral and central levels of chemokines and cytokines have been frequently described in those with AD. Given the increasing evidence of ethnicity-related differences in AD, it was of interest to determine if those altered chemokine and cytokine l...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00512-2
更新日期:2020-01-01 00:00:00
abstract::Schizophrenia is one of the most disabling mental disorders that affects up to 1 % of the population worldwide. Although the causes of this disorder remain unknown, it has been extensively characterized by a broad range of emotional, ideational and cognitive impairments. Studies indicate that schizophrenia affects neu...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9417-z
更新日期:2013-09-01 00:00:00
abstract::In the original publication of the article, author name Masoumeh Asadbegi was incorrectly written as Masoumeh Asadbeigi. The authors regret the oversight. ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,已发布勘误
doi:10.1007/s11011-017-0114-1
更新日期:2017-12-01 00:00:00