Abstract：
:We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA.
journal_name
Cell Biochem Biophysjournal_title
Cell biochemistry and biophysicsauthors
Imataka G,Sakamoto O,Yamanouchi H,Yoshihara S,Omura-Hasegawa Y,Tajima G,Arisaka Odoi
10.1007/s12013-013-9532-9subject
Has Abstractpub_date
2013-09-01 00:00:00pages
185-7issue
1eissn
1085-9195issn
1559-0283journal_volume
67pub_type
杂志文章abstract：:Mechanics of cancer cells are directly linked to their metastatic potential, or ability to produce a secondary tumor at a distant site. Metastatic cells survive in the circulatory system in a non-adherent state, and can squeeze through barriers in the body. Such considerable structural changes in cells rely on rapid r...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-012-9356-z
更新日期：2012-07-01 00:00:00
abstract：:Resveratrol (RSV) is known for its antioxidant properties; however, this compound has been proposed to have cytotoxic and pro-oxidant effects depending on its concentration and time of exposure. We previously reported the cell cycle arrest effect of low doses of RSV in GRX cells, an activated hepatic stellate cell mod...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-013-9703-8
更新日期：2014-03-01 00:00:00
abstract：:The authors studied the nuclear magnetic resonance films and the expression of MMP-1 and TIMP-1 in disk specimens' of patients who had undergone operations for lumbar disk herniation. Forty-one lumbar disk patients were evaluated imaging for degenerative changes and their disk specimens immunohistochemical expression ...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-9815-9
更新日期：2014-07-01 00:00:00
abstract：:There is an emergent need for improving the microsurgical technique of variant arterial anastomosis to reduce the often seen surgery-related complications. We describe in this article our experience in improving this technique, in 73 living donor liver grafts (64 right lobes, 9 left lobes) in patients with end-stage l...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-012-9421-7
更新日期：2013-03-01 00:00:00
abstract：:Filamin (FLN) plays an important role in differentiation, migration, and signal transduction in vascular smooth muscle cells (VSMCs). We hypothesized that suppression of FLN expression would inhibit differentiation and migration of VSMCs, and interrupt the phenotype switch of these cells. We designed and tested differ...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-011-9159-7
更新日期：2011-09-01 00:00:00
abstract：:Cholesystolithiasis is often associated with common bile duct stones (CBDS). In order to assess the choice of surgery in terms of effectiveness and complications in the treatment of CBDS, we have compared three surgical procedures, viz., laparoscopic choledocholithotomy T-tube drainage (LCH-TD), laparoscopic cholecyst...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-010-9127-7
更新日期：2011-04-01 00:00:00
abstract：:Many of the structural domains involved in Ca2+ channel (CACN) inactivation are also involved in determining their sensitivity to antagonist inhibition. We hypothesize that differences in inactivation properties and their structural determinants may suggest candidate domains as targets for the development of novel, se...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1385/CBB:45:3:229
更新日期：2006-01-01 00:00:00
abstract：:The mechanism of induction of cardiomyocyte (CM) dedifferentiation, as seen in chronic hibernating myocardium, is largely unknown. Recently, a cellular model was proposed consisting of long-term cocultures of adult rabbit CMs and cardiac fibroblasts in which typical structural characteristics of hibernation-like dedif...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1385/CBB:44:1:119
更新日期：2006-01-01 00:00:00
abstract：:Biomolecular behavior commonly involves complex sets of interacting components that are challenging to understand through solution-based chemical theories. Molecular assembly is especially intriguing in the cellular environment because of its links to cell structure in processes such as chemotaxis. We use a coarse-gra...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1385/cbb:45:2:195
更新日期：2006-01-01 00:00:00
abstract：:The present study elucidated the prospective of Azadirachta indica supplementation, if any, in affording chemoprevention by modulating the altered cancer markers and ultrastructural changes in DMH-induced colorectal carcinogenesis in rats. The rats were segregated into four groups viz., normal control, DMH treated, A....
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-015-0621-9
更新日期：2015-09-01 00:00:00
abstract：:Our objective is to investigate the promoting effect of hypoxic preconditioning combined with microbubble (MB)-mediated ultrasound (US) on the SDF-1/CXCR4 expression and the migration ability of mesenchymal stem cells (MSCs). Based on the uniform design, the parameters of MB-mediated US, such as the total treatment ti...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-015-0698-1
更新日期：2015-12-01 00:00:00
abstract：:Given that vascular endothelial cells play an important role in the modulation of vascular structure and function, we hypothesized that endocardial endothelial cells (EECs) may have a modulator role in regulating the cardiac interstitial cells. Endocardial endothelial cells were isolated from freshly collected pig hea...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1385/cbb:47:1:65
更新日期：2007-01-01 00:00:00
abstract：:Insulin increases glucose uptake and metabolism in skeletal muscle by signal transduction via protein phosphorylation cascades. Insulin action on signal transduction is impaired in skeletal muscle from Type 2 diabetic subjects, underscoring the contribution of molecular defects to the insulin resistant phenotype. This...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章,评审
doi：10.1007/s12013-007-0030-9
更新日期：2007-01-01 00:00:00
abstract：:The aim of the study was to investigate the influence of radiotherapy on IL-2 and IL-6 secretions of mucous epithelial cells of small intestine and the inhibition effect of deproteinized calf blood extractive (DCBE, also known as Actovegin in trade name) on apoptosis of mucous epithelial cells of small intestine. 50 w...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-0158-3
更新日期：2015-01-01 00:00:00
abstract：:The simultaneous determination of adhesion and deformability parameters of erythrocytes was carried out through a microfluidic device, which uses an inverted optical microscope with new image acquisition and analysis technologies. Also, an update of the models describing erythrocyte adhesion and deformation was propos...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-020-00956-9
更新日期：2020-11-07 00:00:00
abstract：:The state of crosslinking of microfilaments and the state of myosin-driven contraction are the main determinants of the mechanical properties of the cell cortex underneath the membrane, which is significant for the mechanism of shaping cells. Therefore, any change in the contractile state of the actomyosin network wou...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/BF02737896
更新日期：1998-01-01 00:00:00
abstract：:Neural stem cells (NSCs) have widely been used in the treatment of human neurological disorders as cell therapy via intracerebral or intraventricular infusion. However, the migration mechanism required for NSCs homing and recruitment remains to be elucidated. Recently, SDF-1/CXCR4 axis was shown to be responsible for ...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-0103-5
更新日期：2014-12-01 00:00:00
abstract：:The three-dimensional structure of the saccharopine reductase enzyme from the budding yeast Saccharomyces cerevisiae was determined to 1.7-A resolution in the apo form by using molecular replacement. The enzyme monomer consists of three domains: domain I is a variant of the Rossmann fold, domain II folds into a alpha/...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1385/CBB:46:1:17
更新日期：2006-01-01 00:00:00
abstract：:To explore the proteomic changes of placental trophoblastic cells in preeclampsia-eclampsia (PE), placental trophoblastic cells from normally pregnant women and women with hypertension during gestational period were prepared by laser capture microdissection (LCM), and proteins isolated from these cells were subjected ...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-013-9792-4
更新日期：2014-06-01 00:00:00
abstract：:Ezrin is overexpressed in a variety of neoplastic cells and is involved in the later stages of tumor progression and metastasis. The present study investigated the expression and functional significance of ezrin in human brain astrocytoma. Ezrin expression was examined in specimens from healthy human brains (10 autops...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-013-9653-1
更新日期：2013-01-01 00:00:00
abstract：:Nano-drug delivery systems have proven to be an efficient formulation tool to overcome the challenges with current antibiotics therapy and resistance. A series of pH-responsive lipid molecules were designed and synthesized for future liposomal formulation as a nano-drug delivery system for vancomycin at the infection ...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-017-0786-5
更新日期：2018-06-01 00:00:00
abstract：:Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with diff...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章,评审
doi：10.1007/s12013-011-9285-2
更新日期：2012-01-01 00:00:00
abstract：:Calcium channel blockers have been used in the treatment of coronary artery spasm for many years. However, there is insufficient knowledge about their application to treat atrioventricular block caused by coronary spasm. Clinical data of five patients who were diagnosed with coronary spasm caused by atrioventricular b...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-0498-z
更新日期：2015-06-01 00:00:00
abstract：:Depression is a common emotional disorder associated with increased risk of suicide and rate of disability. In this double-blinded control study, we tested the efficacy of modified electroconvulsive therapy (MECT) in patients with treatment resistant depression (TRD) using the Hamilton Depression Rating Scale for Depr...
journal_title：Cell biochemistry and biophysics
pub_type： 临床试验,杂志文章
doi：10.1007/s12013-014-0361-2
更新日期：2015-04-01 00:00:00
abstract：:Osteoclast is the only cell that can degrade bone tissue in vivo. Recent studies have shown the important role of cytoskeleton dynamics in osteolysis and the formation of podosome belt in osteoclasts. This process is regulated by the dynamic microtubule (MT) network. We treated osteoclast precursor cells Raw264.7 with...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-0258-0
更新日期：2015-03-01 00:00:00
abstract：:The aim of the study was to explore the effects of different fitness sports on cognitive function and emotion of the aged people. A total of 150 subjects aged between 60 and 70 were recruited from Shenyang Aged University and elderly activity center. All subjects reported no fitness before this study. The aged subject...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s12013-014-0100-8
更新日期：2014-12-01 00:00:00
abstract：:Tetrahydrobiopterin (BH4) is a member of the pterin family that has a core structure of pyrazino-2,3-d-pyrimidine rings. Because BH4 is an essential cofactor for the biosynthesis of nitric oxide (a major vasodilator), there is growing interest in BH4 biochemistry in endothelial cells (the cells that line blood vessels...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章,评审
doi：10.1385/CBB:41:3:415
更新日期：2004-01-01 00:00:00
abstract：:STAT3 pathway plays an important role in the growth of diffuse large B-cell lymphoma (DLBCL) cells. Here we investigated the antitumor activity of Quercetin, a flavonoid compound, in combination with rituximab in DLBCL cell lines in vitro. We found that Quercetin synergistically enhanced rituximab-induced growth inhib...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-014-0064-8
更新日期：2014-11-01 00:00:00
abstract：:Molecular dynamics simulations, binding free energy calculations, principle component analysis (PCA), and residue interaction network analysis were employed in order to investigate the molecular mechanism of M184I single mutation which played pivotal role in making the HIV-1 reverse transcriptase (RT) totally resistan...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章
doi：10.1007/s12013-015-0709-2
更新日期：2016-03-01 00:00:00
abstract：:Slow inactivation in voltage-gated sodium channels is a biophysical process that governs the availability of sodium channels over extended periods of time. Slow inactivation, therefore, plays an important role in controlling membrane excitability, firing properties, and spike frequency adaptation. Defective slow inact...
journal_title：Cell biochemistry and biophysics
pub_type： 杂志文章,评审
doi：10.1385/CBB:35:2:171
更新日期：2001-01-01 00:00:00
