Abstract:
:Glycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease.
journal_name
FEBS Lettjournal_title
FEBS lettersauthors
Galli L,Orrico A,Marcolongo P,Fulceri R,Burchell A,Melis D,Parini R,Gatti R,Lam C,Benedetti A,Sorrentino Vdoi
10.1016/s0014-5793(99)01248-xkeywords:
subject
Has Abstractpub_date
1999-10-08 00:00:00pages
255-8issue
2eissn
0014-5793issn
1873-3468pii
S001457939901248Xjournal_volume
459pub_type
杂志文章相关文献
FEBS LETTERS文献大全abstract::Tripeptidyl peptidase I (TPP-I) is a lysosomal enzyme that cleaves tripeptides from the N-terminus of polypeptides. A comparison of TPP-I amino acid sequences with sequences derived from an EST database suggested that TPP-I is identical to a pepstatin-insensitive carboxyl proteinase of unknown specificity which is mut...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(98)01683-4
更新日期:1999-01-25 00:00:00
abstract::Activator protein 1 (AP1) is a complex of Fos and Jun, and it regulates the transcription of genes possessing the AP1-binding sequence. The purpose of this study was to detect living cells that express AP1 after stimulation with a tumor promoter. The Fos and Jun components of AP1 were induced rapidly and transiently i...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(96)00487-5
更新日期:1996-06-10 00:00:00
abstract::We describe the identification and characterization of the BMH1 gene from the yeast Saccharomyces cerevisiae. The gene encodes a putative protein of 292 amino acids which is more than 50% identical with the bovine brain 14-3-3 protein and proteins isolated from sheep brain which are strong inhibitors of protein kinase...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(92)80426-h
更新日期:1992-05-11 00:00:00
abstract::In fibrous connective tissues, fibroblasts are organized into syncytia, cellular networks that enable matrix remodeling and that are interconnected by intercellular adherens junctions (AJs). The AJs of fibroblasts are mediated by N-cadherin, a broadly expressed classical cadherin that is critically involved in develop...
journal_title:FEBS letters
pub_type: 杂志文章,评审
doi:10.1016/j.febslet.2006.12.029
更新日期:2007-01-23 00:00:00
abstract::Many receptors coupled to inhibitory Go/Gi-type G proteins often also produce stimulatory signals like Ca2+ mobilisation. When expressed in CHO cells the alpha2-adrenoceptor subtypes alpha2A, alpha2B and alpkha2C mobilised Ca2+. These responses were strongly reduced by the P2Y-purinoceptor antagonist suramin. A large ...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(98)00664-4
更新日期:1998-07-03 00:00:00
abstract::The structure of [Val1]gramicidin A incorporated into sodium dodecyl-d25 sulphate micelles has been studied by two-dimensional proton NMR spectroscopy. Analysis of nuclear Overhauser effects, spin-spin couplings and solvent accessibility of NH groups show that the conformation of the Na+ complex of gramicidin A in det...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(85)80702-x
更新日期:1985-07-08 00:00:00
abstract::Hypoglycaemia is a major complication of severe malaria [(1990) Trans. Roy. Soc. Trop. Med. 84 (suppl. 2) 1-65], especially cerebral malaria, in which it is associated with increased mortality [(1990) Lancet 336, 1039-1043; (1989) Quart. J. Med. (New series) 71, 441-459]; however, the mechanisms responsible have not b...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(92)81109-y
更新日期:1992-10-26 00:00:00
abstract::Organisms using the thiosulfate-oxidizing Sox enzyme system fall into two groups: group 1 forms sulfur globules as intermediates (Allochromatium vinosum), group 2 does not (Paracoccus pantotrophus). While several components of their Sox systems are quite similar, i.e. the proteins SoxXA, SoxYZ and SoxB, they differ by...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2009.03.020
更新日期:2009-04-17 00:00:00
abstract::Present analysis procedures for NMR structure determination of macromolecules presuppose fixed internuclear distances. Improvement of the precision of the requisite NOE information has stimulated the use of more quantitative distance constraints thus necessitating examination as to whether the assumption of a rigid mo...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(88)80287-4
更新日期:1988-08-15 00:00:00
abstract::The solution structure of the catalytic domain of MMP-20, a member of the matrix metalloproteinases family not yet structurally characterized, complexed with N-Isobutyl-N-(4-methoxyphenylsulfonyl)glycyl hydroxamic acid (NNGH), is here reported and compared with other MMPs-NNGH adducts. The backbone dynamic has been ch...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2007.08.069
更新日期:2007-10-02 00:00:00
abstract::We report a new method for the detection of ligand-induced receptor internalization by fluorescence ratiometric imaging of pH in endosomes in combination with a recently developed posttranslational labeling system based on the formation of a heterodimeric coiled-coil structure. The N-terminus of the β2-adrenergic rece...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2011.06.012
更新日期:2011-07-21 00:00:00
abstract::The nucleotide sequence of the Pseudomonas saccharophila gene encoding maltotetraohydrolase (G4-forming amylase) has been determined. The coding region for the G4-forming amylase precursor contained 1653 nucleotides. The deduced precursor protein included an N-terminal 21-residue putative signal peptide; the deduced m...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(89)81056-7
更新日期:1989-09-11 00:00:00
abstract::Creatine kinases (CK) play a prominent role in cell energy distribution through an energy shuttle between mitochondria and other organelles. Human brain CK was cloned and overexpressed in COS-7 cells. We then deleted His-65 and/or Pro-66 situated near the center of a flexible loop as shown by X-ray crystallography on ...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(00)01614-8
更新日期:2000-06-09 00:00:00
abstract::Neurotrophins support neuronal survival, development, and plasticity through processes requiring gene expression. We studied how vgf target gene transcription is mediated by a critical promoter region containing E-box, CCAAT and cAMP response element (CRE) sites. The p300 acetylase was present in two distinct protein ...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(01)03227-6
更新日期:2002-01-02 00:00:00
abstract::Rats bearing the Yoshida AH-130 ascites hepatoma showed an increased expression of both uncoupling protein-2 (UCP2) (194%) and UCP3 (189%) mRNA levels in skeletal muscle 7 days after tumour inoculation. Interestingly, an even greater increase was observed in mRNA for both UCP2 (278%) and UCP3 (797%) in the pair-fed an...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(98)01178-8
更新日期:1998-10-09 00:00:00
abstract::Intravital multiphoton imaging allows visualization of infections and pathogenic mechanisms within intact organs in their physiological context. Today, most organs of mice and rats are applicable to in vivo or ex vivo imaging, opening completely new avenues for many researchers. Advances in fluorescent labeling of pat...
journal_title:FEBS letters
pub_type: 杂志文章,评审
doi:10.1002/1873-3468.12122
更新日期:2016-07-01 00:00:00
abstract::We have purified and partially sequenced two proteins from Xenopus laevis previtellogenic oocytes, belonging to messenger ribonucleoprotein particles (mRNPs). The purification procedure rests on the thermostability of these proteins, which remain soluble after heating the cell extracts at 80 degrees C. The thermostabl...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(91)80456-d
更新日期:1991-04-22 00:00:00
abstract::Replication of Brucella inside eukaryotic cells is essential for pathogenesis, and successful infection requires rapid adaptation to the intracellular milieu. Close relatives of Brucella use the two-component system FixLJ to survive inside the host. We aimed to identify a homologous sensor in Brucella abortus. A predi...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2013.07.047
更新日期:2013-09-17 00:00:00
abstract::The AMP-activated protein kinase (AMPK) is the central component of a protein kinase cascade that plays a major role in energy sensing. AMPK is activated pharmacologically by 5-amino-4-imidazolecarboxamide (AICA) riboside monophosphate (ZMP), which mimics the effects of AMP on the AMPK cascade. Here we show that uptak...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(02)03501-9
更新日期:2002-11-06 00:00:00
abstract::We show that some arbitrarily chosen DNA sequences have the ability to influence the positioning of RecA monomers in RecA-DNA complexes. The preferential phase of binding of RecA monomers is shown to depend on the DNA sequence and its nucleotide composition. A simple rearrangement of bases in a limited DNA stretch inf...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(03)00572-6
更新日期:2003-07-10 00:00:00
abstract::Insulin resistant states are associated with an increase in the beta cell mass and also high levels of circulating insulin. Ultimately the beta cells undergo a failure that leads to diabetes. At this stage, a question arises if those persistent high levels of circulating insulin may contribute to beta cell damage. To ...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2008.10.020
更新日期:2008-11-26 00:00:00
abstract::Escherichia coli phosphofructokinase-2 (Pfk-2) is a homodimer whose subunits consist of a large domain and an additional beta-sheet that provides the interfacial contacts between the subunits, creating a beta-barrel flattened-like structure with the adjacent subunit's beta-sheet. To determine how the structural organi...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/j.febslet.2009.05.034
更新日期:2009-06-18 00:00:00
abstract::Chlorogenic acid (CGA; 3-o-caffeoylquinic acid), a phenylpropanoid metabolite of plants, was oxidized by H2O2 in the presence of horseradish peroxidase. The primary and secondary oxidized products both were free radicals which gave EPR multiline signals at g = 2.0044 and 2.0042 in the presence of zinc as a spin stabil...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(98)00048-9
更新日期:1998-02-06 00:00:00
abstract::alpha-Crystallin, the major protein of the ocular lens, is known to have extensive similarities to small heat shock proteins and to act as a molecular chaperone. The exposure of hydrophobic surfaces on alpha-crystallin was studied by fluorescence spectroscopy using the hydrophobic probe bis-ANS. Upon heating the prote...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(95)00775-5
更新日期:1995-08-07 00:00:00
abstract::A new peptide, Tc1, containing only 23 amino acids closely packed by three disulfide bridges was isolated from the Amazonian scorpion Tityus cambridgei. It blocks reversibly the Shaker B K(+)-channels with a K(d) of 65 nM and displaces binding of noxiustoxin to mouse brain synaptosome membranes. It is the shortest kno...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(00)02253-5
更新日期:2000-12-08 00:00:00
abstract::The biological role of phosphoproteins depends upon their degree of phosphorylation in vivo. Methods currently available to measure the degree of phosphorylation of a protein involve indirect procedures to detect the 32P-phosphate incorporation. We report here a direct method to measure relative amounts of phospho- an...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(92)81236-f
更新日期:1992-04-20 00:00:00
abstract::Myeloperoxidase (MPO) is the most abundant protein in neutrophils and plays a central role in microbial killing and inflammatory tissue damage. Because most of the non-steroidal anti-inflammatory drugs and other drugs contain a thiol group, it is necessary to understand how these substrates are oxidized by MPO. We hav...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(98)01727-x
更新日期:1999-01-29 00:00:00
abstract::Advanced glycation end products (AGE) are known to serve as ligands for the scavenger receptors such as SR-A, CD36 and SR-BI. In the current study, we examined whether AGE is recognized by lectin-like oxidized low density lipoprotein receptor-1 (LOX-1). Cellular binding experiments revealed that AGE-bovine serum album...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(01)03325-7
更新日期:2002-01-30 00:00:00
abstract::Foot-and-mouth disease virus leader proteinase (L(pro)), a papain-like cysteine proteinase, has six acidic amino acids between 4 A and 11 A of the catalytic dyad of Cys51 and His148. In contrast, in papain and related enzymes, only one acidic residue lies within this distance. We have examined by site-directed mutagen...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/s0014-5793(02)03237-4
更新日期:2002-09-25 00:00:00
abstract::Amiloride, a specific inhibitor for the Na(+)-driven flagellar motors of alkalophilic Bacillus, is known to inhibit secondarily the growth of alkalophiles. The motility of a marine Vibrio, V. alginolyticus, was almost completely inhibited by 2 mM amiloride either at pH 7.0 or 8.5. We found that this concentration of a...
journal_title:FEBS letters
pub_type: 杂志文章
doi:10.1016/0014-5793(92)80954-f
更新日期:1992-12-14 00:00:00