Abstract:
:Mutations of epsilon-sarcoglycan gene (SGCE) have been implicated in myoclonus-dystonia (M-D), a movement disorder. To determine the pathophysiology of M-D, we produced Sgce knockout mice and found that the knockout mice exhibited myoclonus, motor impairments, hyperactivity, anxiety, depression, significantly higher levels of striatal dopamine and its metabolites, and an inverse correlation between the dopamine and serotonin metabolites. The results suggest that the diverse symptoms associated with M-D are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems. Therefore, antipsychotic agents and serotonin reuptake inhibitors may offer potential benefits for M-D patients.
journal_name
J Biochemjournal_title
Journal of biochemistryauthors
Yokoi F,Dang MT,Li J,Li Ydoi
10.1093/jb/mvj138subject
Has Abstractpub_date
2006-07-01 00:00:00pages
141-6issue
1eissn
0021-924Xissn
1756-2651pii
mvj138journal_volume
140pub_type
杂志文章abstract::The 565 amino-acid PRIB protein with a Zn(II)2Cys6 zinc-cluster DNA-binding motif is the expression product of the priB gene, which is most actively transcribed in an early stage of fruiting-body formation by the basidiomycete, Lentinus edodes. PRIB produced in Escherichia coli using the bacteriophage T7 expression sy...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a021866
更新日期:1997-12-01 00:00:00
abstract::The electron transport system coupled to the oxidation of methylamine in Pseudomonas AM1 was investigated by reconstituting it from the highly purified components. A mixture of methylamine dehydrogenase, cytochrome cH and cytochrome c oxidase (= cytochrome aa3) actively oxidized methylamine (161 mol of O2 consumed/mol...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a121929
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/jb/mvg046
更新日期:2003-03-01 00:00:00
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a133348
更新日期:1981-05-01 00:00:00
abstract::Comparative studies of the unfolding equilibria of two homologous proteins, bovine alpha-lactalbumin and hen lysozyme, induced by treatment with guanidine hydrochloride have been made by analysis of the peptide and the aromatic circular dichroism spectra. The effect of the specific binding of Ca2+ ion by the former pr...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a135582
更新日期:1986-04-01 00:00:00
abstract::Three radioactive glycopeptides were isolated from human peripheral lymphocytes stimulated with Wistaria floribunda mitogen in the presence of D-[14C]glucosamine hydrochloride by mild trypsin digestion followed by gel filtration and preparative high-voltage paper electrophoresis. The carbohydrate compositions of these...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:
更新日期:1977-05-01 00:00:00
abstract::Polysialoglycoprotein (PSGP) is a major cortical alveolus glycoprotein of rainbow trout eggs that is characterized by the attachment of a polysialic acid structure to its O-glycan chains. It has been demonstrated that the polysialic acid structure is synthesized by at least three sialyltransferases mostly localized in...
journal_title:Journal of biochemistry
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doi:10.1093/jb/mvh106
更新日期:2004-08-01 00:00:00
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a133111
更新日期:1980-11-01 00:00:00
abstract::The activity of ornithine decarboxylase (ODC) in rabbit costal chondrocytes in culture markedly increased after addition of parathyroid hormone (PTH), reaching a maximum 4 to 5 h after PTH addition. The effect of PTH was dose-dependent both in the presence and absence of fetal calf serum. Addition of cycloheximide or ...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a132326
更新日期:1979-01-01 00:00:00
abstract::Studies on human cell hybrids of a cervical carcinoma cell line, HeLa, and normal fibroblasts have indicated that the tumorigenicity of these cells is under the control of a putative tumor suppressor on chromosome 11, although the nature of this suppressor remains unknown. We examined the expression of caveolin-1, a p...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a022123
更新日期:1998-08-01 00:00:00
abstract::The circadian change of gluconeogenesis in the liver in vivo in fed rats was studied. Gluconeogenesis in the liver in vivo was determined by measuring the rate of synthesis of 14C-labeled blood glucose derived from a 14C-labeled substrate, such as lactate, pyruvate or an amino acid injected into nephrectomized rats. G...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a133051
更新日期:1980-10-01 00:00:00
abstract::Induction of cytosolic aspartate aminotransferase (cAspAT) was observed in rat liver on administration of a high-protein diet, or glucagon and during fasting. The enzyme activity in the liver of rats given 80% protein diet or glucagon injection during starvation increased to 2- to 2.4-fold that in the liver of rats ma...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a122350
更新日期:1988-05-01 00:00:00
abstract::OsCnfU-1A is a chloroplast-type Nfu-like protein that consists of tandem repeats sharing high sequence homology. Domain I of this protein, but not domain II, has a C-X-X-C motif that is thought to assemble an iron-sulphur cluster. Herein we report the solution structure of OsCnfU-1A domain I (73-153). Although OsCnfU-...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/jb/mvm120
更新日期:2007-07-01 00:00:00
abstract::A large COOH-terminal domain of Serratia marcescens serine protease (SSP) is essentially required for the excretion of the mature protease region through the outer membrane in Escherichia coli. For investigation of the possibility of transporting foreign periplasmic proteins by utilizing the function of the COOH-termi...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a124527
更新日期:1994-08-01 00:00:00
abstract::Regulation of the enzymatic activity of heterotrimeric smooth muscle myosin phosphatase (SMMP) by MgATP was examined using phosphorylated myosin (P-myosin), heavy meromyosin (P-HMM), subfragment-1 (P-S1), and 20 kDa myosin light chain (P-MLC(20)) as substrates. The activity toward P-myosin and P-HMM was dose-dependent...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a022518
更新日期:1999-10-01 00:00:00
abstract::A synchronous enzyme-reaction system using water-soluble formazan and a non-enzymatic electron mediator was developed and applied to an enzyme immunoassay (EIA). The reaction system consists of four steps: (I) dephosphorylation of NADP(+) to produce NAD(+) by alkaline phosphatase (ALP), (II) reduction of NAD(+) to pro...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a003082
更新日期:2002-01-01 00:00:00
abstract::Treatment of Sendai virus with p-azidophenyl-6-chloro-6-deoxy-beta-D-glucopyranoside (APG) caused chemical modification of the viral envelope under UV irradiation, which did not affect the hemagglutinin activity of the virus but inhibited the hemolytic activity. Also, the transfer of phospholipid from the viral envelo...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a133088
更新日期:1980-10-01 00:00:00
abstract::A form of UDP-glucuronyltransferase has been purified from liver microsomes of 3-methylcholanthrene-treated rats by a simple and rapid method involving chromatography on DEAE-Toyopearl and UDP-hexanolamine Sepharose columns. The purified preparation gave a single protein band (Mr 54,000) on sodium dodecyl sulfate-poly...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a122505
更新日期:1988-10-01 00:00:00
abstract::Human platelet membrane glycoproteins IIb (GPIIb) and IIIa (GPIIIa), which have been proposed to be subunits of a receptor for fibrinogen, were purified from Triton X-100-solubilized platelet membranes by affinity chromatography on a concanavalin A (Con A)-Sepharose column followed by preparative sodium dodecyl sulfat...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a121845
更新日期:1986-11-01 00:00:00
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a123451
更新日期:1991-05-01 00:00:00
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a133713
更新日期:1982-01-01 00:00:00
abstract::An inhibitor of blood coagulation, a new protein with an apparent molecular weight of 34,000 and an isoelectric point of 4.9, was purified from human placental tissue by EDTA extraction. Five cDNA clones were isolated from the human placental lambda gt11 cDNA library using the mouse monoclonal antibody raised against ...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a122165
更新日期:1987-11-01 00:00:00
abstract::Raft is a mobile membrane subdomain enriched in sphingolipid and cholesterol and also various signaling molecules. Previous observation suggested that brain-derived rafts contain tubulin but that rafts of non-neural origin do not. We hypothesized that SCG10, one of the neuronal growth-associated proteins (nGAPs), migh...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a002908
更新日期:2001-05-01 00:00:00
abstract::A new p-coumaric acid (4-hydroxycinnamic acid) hydroxylase was detected in mung bean seedlings treated with tentoxin, a fungal toxin, in which polyphenol oxidase that hydroxylates a wide variety of monophenols in vitro was completely eliminated. The enzyme required molecular oxygen and showed a pH optimum of 5.0. The ...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a122651
更新日期:1989-02-01 00:00:00
abstract::The effects of 2'-substitutions of ATP on the substrate and inhibitor properties for RNA synthesis were studied in the poly(dAT)-dependent reaction of Escherichia coli RNA polymerase. In the presence of UTP, 2'-deoxy-2'-azidoadenosine 5'-triphosphate (AZTP) was incorporated into an acid-insoluble fraction at one-tenth...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a132812
更新日期:1980-03-01 00:00:00
abstract::Rat liver rhodanese [EC 2.8.1.1] purified by ammonium sulfate fractionation, CM-cellulose and Sephadex G-200 chromatography yielded two active fractions (I & II). Their molecular weights were estimated to be 1.75 X 10(4) (I) and 1.26 X 10(4) (II) by the gel filtration method. Kinetic studies revealed that Fraction I r...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a130973
更新日期:1975-10-01 00:00:00
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journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a132581
更新日期:1979-09-01 00:00:00
abstract::Interaction between protein and phospholipid molecules in sarcoplasmic reticulum (SR) was studied by measurement of the conformational fluctuation of the protein using the kinetics of the hydrogen-deuterium exchange reaction. It was revealed that the state of SR ATPase undergoes a phase transition at about 18 degrees ...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a131793
更新日期:1977-10-01 00:00:00
abstract::Previously, we demonstrated that the 2.6-kDa peptide extending from Arg177 to Tyr198 in subdomain 4 of rabbit skeletal actin bound to actin itself, inhibited the elongation of actin filament, and severed F-actin. The corresponding segment in actin, therefore, is thought to contain the most critical actin-actin contact...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a125012
更新日期:1995-12-01 00:00:00
abstract::The terminal bases of the viral ribonucleic acid from the Caulobacter ribonucleic acid phage phiCp2 were examined. The viral ribonucleic acid contained guanosine triphosphate (pppG) at the 5'-terminus and adenosine (AOH) at the 3'-terminus. ...
journal_title:Journal of biochemistry
pub_type: 杂志文章
doi:10.1093/oxfordjournals.jbchem.a132112
更新日期:1978-07-01 00:00:00