Abstract:
:Glycogen-storage disease type II (GSD II, acid maltase deficiency, Pompe's disease) is caused by defects in the lysosomal acid alpha-glucosidase (GAA) gene. Clinically, patients with the severe infantile form of GSD II have muscle weakness and cardiomyopathy eventually leading to death before the age of two years. Patients with the juvenile or the adult form of GSD II present with myopathy with a slow progression over several years or decades. Apart from a common base substitution in intron1, designated IVS1(-13T-->G) and resulting in the aberrant splicing of exon 2, the other mutations recently discovered in the GAA gene are rare and often unique to single patients. In this paper, we identified a two-base frameshift deletion in three unrelated adult-onset GSD II patients. This small deletion lies in the first coding exon (exon 2) and results in a premature stop codon at the very 5' end of the coding sequence of the GAA gene. The three patients were compound heterozygotes and two of them had the common IVS1(-13G-->T) mutation on the second allele. We speculate that this novel deletion may be relatively frequent among French patients, possibly leading to the severe infantile phenotype of GSD II if it occurs in homozygous form.
journal_name
Biochem Biophys Res Communjournal_title
Biochemical and biophysical research communicationsauthors
Nicolino M,Puech JP,Letourneur F,Fardeau M,Kahn A,Poenaru Ldoi
10.1006/bbrc.1997.6749subject
Has Abstractpub_date
1997-06-09 00:00:00pages
138-41issue
1eissn
0006-291Xissn
1090-2104pii
S0006-291X(97)96749-8journal_volume
235pub_type
杂志文章abstract::Prion diseases are fatal neurodegenerative diseases associated with structural conversion of α-helical prion protein (PrP) into its β-sheet rich isoform (PrPSc). Previous genetic analyses have indicated that several amino acid residues involved in the hydrophobic core of PrP (such as V180, F198, and V210) play a criti...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2018.10.075
更新日期:2018-11-17 00:00:00
abstract::Regulation of the bone sialoprotein (BSP) gene is important in the differentiation of osteoblasts, in bone matrix mineralization, and in tumor metastasis. We investigated BSP gene transcription by performing functional analysis of the 9256bp of the 5' flanking region of the murine BSP gene containing its promoter. We ...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2004.02.068
更新日期:2004-04-02 00:00:00
abstract::In general, viral infection is supposed to induce stress responses in the host cell. However, very few detailed observations about virus-induced stress responses have been reported. Here we investigated specific stress responses in Vero cells infected with Sindbis virus (SV), a single-stranded RNA virus, acute infecti...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1998.9724
更新日期:1998-12-09 00:00:00
abstract::Erythropoietin has been thought to be secreted to plasma soon after the production because of the difficulty of Western blot analysis and immunohistochemistry. We established the new methods of Western blot analysis and immunohistochemistry. Using the new methods, we investigated the effects of aldosterone and fludroc...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2018.08.102
更新日期:2018-09-18 00:00:00
abstract::Specific receptors for murine TNF have been identified in homogenates of rodent brain. These receptors are saturable and bind TNF with sufficient affinity to ensure occupancy by cytokine elaborated during infection. 125I-mTNF was detected in four specific complexes of Mr 130,000, 90,000, 66,000 and 60,000 after affini...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/0006-291x(91)92113-x
更新日期:1991-12-31 00:00:00
abstract::Fourteen kb murine GLUT4 minigene (= -7395 GLUT4) contains DNA sequence that confers tissue specific, exercise-induced up-regulation of the GLUT4 gene in skeletal muscle and high-fat diet induced-down-regulation in white adipose tissue. To identify the DNA sequences required for regulated expression, we generated GLUT...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1997.7516
更新日期:1997-10-20 00:00:00
abstract::RNA-binding proteins are believed to play important roles in regulation of neural functions. Recently, a mouse cDNA encoding the cold-inducible RNA-binding protein, Cirp, has been isolated, the amino acid sequence of which showed similarity to plant circadian rhythm proteins. In the present study, diurnal expression o...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1998.8482
更新日期:1998-04-17 00:00:00
abstract::Glucose depressed DNA synthesis in rat hepatocytes in primary culture. As compared to controls cultured with 5.6 mM glucose, maximal (> or = 75%) inhibition was obtained at 20-30 mM, and half-maximal effect at 10-15 mM. Comparison of D- and L-glucose showed that the effect was specific for the D-form. Maximal inhibiti...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1994.2097
更新日期:1994-08-15 00:00:00
abstract:AIM/BACKGROUND:CD99 participate in neutrophil infiltration after inflammatory events; however, despite the important role of inflammation in ischemic stroke, the role of CD99 in ischemic stroke remains unclear. METHOD:In the present study, we detected the protein expression of CD99, ICAM-1, and CD31 (PECAM-1) in oxyge...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2020.03.159
更新日期:2020-06-04 00:00:00
abstract::Mouse MARCKS is a prominent myristoylated alanine-rich C kinase substrate implicated in brain development, calcium/calmodulin signaling, and membrane cytoskeletal restructuring, and is developmentally regulated in a cell- and tissue-specific fashion. In this study, transcriptional regulation of mouse MARCKS promoter i...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.2002.6655
更新日期:2002-04-12 00:00:00
abstract::Pyrene, a structural analog of benzo[a]pyrene, is an effective competing ligand for high affinity carcinogen binding proteins in mouse liver. A pyrene-derivatized Sepharose gel was prepared for affinity chromatography purification of these proteins, and adsorbs all detectable [3H]B[a]P-binding activity from hepatic cy...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/0006-291x(85)91416-0
更新日期:1985-05-31 00:00:00
abstract::It has been suggested that stress stimuli from the microenvironment maintain a subset of tumor cells with stem-like properties, including drug resistance. Here, we investigate whether Sp1, a stress-responsive factor, regulates stemness gene expression and if its inhibition sensitizes cancer cells to chemotherapy. Hydr...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2017.09.095
更新日期:2017-11-04 00:00:00
abstract::The expression and processing of the Hepatitis C virus core protein (HCcAg) were analyzed in the methylotrophic yeast Pichia pastoris. Two proteins with 21 (p21) and 23 kDa (p23) were detected in immunoblot with a serum from a chronic carrier patient, as the major products for HCcAg. Both proteins, p21 and p23, produc...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/s0006-291x(02)00635-6
更新日期:2002-07-05 00:00:00
abstract::Purified human recombinant interleukin 4 (IL-4) was radio iodinated to high specific radioactivity without loss of biological activity. 125I-IL-4 bound specifically to the Burkitt lymphoma Jijoye cells and other cell lines. Jijoye cells showed a high affinity for 125I-IL-4 (Kd approximately equal to 7 10(-11) M) and d...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/0006-291x(87)90507-9
更新日期:1987-12-31 00:00:00
abstract::In Saccharomyces cerevisiae, transcription of ARO9 and ARO10 genes, involved in the catabolism of aromatic amino acids, is activated by Aro80 transcription factor in response to aromatic amino acids. Here we show that the transcription of ARO9 and ARO10 is also induced by heat shock in an Aro80-dependent manner. Howev...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2013.07.019
更新日期:2013-08-16 00:00:00
abstract::Cellular Ca(2+) homeostasis is maintained through the integrated and coordinated function of Ca(2+) transport molecules, Ca(2+) buffers and sensors. These molecules are associated with the plasma membrane and different cellular compartments, such as the cytoplasm, nucleus, mitochondria, and cellular reticular network,...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章,评审
doi:10.1016/j.bbrc.2015.02.004
更新日期:2015-04-24 00:00:00
abstract::This study provides evidence for the presence of large conductance Ca(2+)-dependent K-channels in guinea pig and human urinary bladder smooth muscle. A23187, a Ca(2+)-ionophore, increased charybdotoxin and iberiatoxin sensitive 42K efflux in human urinary bladder smooth muscle cells, suggesting that large conductance ...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1995.2146
更新日期:1995-08-15 00:00:00
abstract::We describe a new method for multi-wavelength immunoassays using surface plasmon-coupled emission (SPCE). This phenomenon is coupling of excited fluorophores with a nearby thin metal film, in our case silver, resulting in strongly directional emission into the underlying glass substrate. The angle at which the radiati...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2003.12.010
更新日期:2004-01-16 00:00:00
abstract::Epitopic peptides representing the C-terminal (HA1) region of cleaved hemagglutinin of influenza virus from different serotypes were synthesized. Circular dichroism and Fourier-transform infrared spectroscopic data showed that peptides HS2 and HS3 have a predominantly alpha-helical conformation in trifluoroethanol. Re...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1993.1759
更新日期:1993-06-30 00:00:00
abstract::Platelets play essential roles in hemostasis and thrombosis by aggregating with each other. However, the molecular mechanism governing platelet aggregation is not yet fully understood. Here, we established an assay system using platelets permeabilized with streptolysin-O to analyze mechanism of the thrombin-induced ag...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.2001.4237
更新日期:2001-02-02 00:00:00
abstract::Site-directed mutagenesis (SDM) of an arylesterase (the arylesterase) from Vibrio mimicus revealed that residues S29, H153, and D96 constituted a catalytic triad. The use of a serine residue for ester hydrolysis by the arylesterase proves that the enzyme is a novel serine arylesterase. SDM also showed that D28 was nec...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1996.0620
更新日期:1996-04-16 00:00:00
abstract::Sulfate plays an essential role in human growth and development. Here, we characterized the functional properties of the human Na(+)-sulfate cotransporter (hNaS2), determined its tissue distribution, and identified its gene (SLC13A4) structure. Expression of hNaS2 protein in Xenopus oocytes led to a Na(+)-dependent tr...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2004.11.102
更新日期:2005-01-28 00:00:00
abstract::We have investigated the involvement of P-glycoprotein (P-gp)/caveolin-1 interaction in the regulation of brain endothelial cells (EC) migration and tubulogenesis. P-gp overexpression in MDCK-MDR cells was correlated with enhanced cell migration whereas treatment with P-gp inhibitors CsA or PSC833 reduced it. Transfec...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2008.05.012
更新日期:2008-08-01 00:00:00
abstract::An antiserum was generated against a C-terminal peptide of the mouse activin type II receptor (ActR-II), which specifically immunoprecipitates ActR-II protein transiently expressed in COS-1 cells. Autophosphorylation activity of the ActR-II was examined in [32P]orthophosphate labeled COS-1 cells. The immunoprecipitate...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1993.1995
更新日期:1993-08-16 00:00:00
abstract::Alpha-L-fucosidase was purified from the bull seminal plasma by chromatography on DEAE-disk, octyl sepharose hydrophobic column and HPLC. The enzyme appeared to be pure as judged by the polyacrylamide gel electrophoresis both under the nondenaturing and denaturing conditions. The pure enzyme promoted the acrosome reac...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/0006-291x(86)90333-5
更新日期:1986-06-30 00:00:00
abstract::The kallikrein family (KLK) has been implicated in cancer and may be useful as tumor markers. Here, we compared the 15 KLK genes' expression in malignant and normal breast tissues using real-time quantitative PCR. Most KLKs were expressed at lower levels in breast cancer compared to normal breast tissue. The only exce...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2008.07.138
更新日期:2008-10-10 00:00:00
abstract::The peptide deformylase in bacteria is involved in removal of N-formyl group from newly synthesized proteins. The gene encoding this enzyme from Mycobacterium tuberculosis was cloned and expressed in Escherichia coli. The enzyme activity of the recombinant protein (mPDF) was insensitive to modulation by common monoval...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2005.04.142
更新日期:2005-07-01 00:00:00
abstract::The chaperonin from the acidothermophilic archaeon, Sulfolobus sp. Strain 7, is composed of two kinds of subunits designated as Scp alpha and Scp beta. In this study, we characterized the recombinant Scp alpha and Scp beta, which were separately expressed in Escherichia coli. Both of them were able to assemble to homo...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1006/bbrc.1997.8026
更新日期:1998-01-26 00:00:00
abstract::Linkage-specific polyubiquitination regulates many cellular processes. The N-terminal fragment of Rabex-5 (Rabex-5(9-73)) contains tandem ubiquitin binding domains: A20_ZF and MIU. The A20_ZF-MIU of Rabex-5 is known to bind monoubiquitin but molecular details of polyubiquitin binding affinity and linkage selectivity b...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2012.06.032
更新日期:2012-07-13 00:00:00
abstract::Neuroblastoma (NB) expresses the tyrosine kinase receptors c-Kit, PDGFR-alpha and -beta-targets for STI-571. We investigated a possible combination therapy of STI-571 with retinoic acid (RA) and gamma-irradiation on NB cell viability in vitro. Expression of tyrosine kinase receptors and their ligands was examined in 6...
journal_title:Biochemical and biophysical research communications
pub_type: 杂志文章
doi:10.1016/j.bbrc.2006.02.059
更新日期:2006-04-21 00:00:00