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Results 1 - 10
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211
Novel Pathogenic LRRK2 p.Asn1437His Substitution in
"... Abstract: Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease ma ..."
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Abstract: Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease
Substitutions of aspartate 378 in the phosphorylation domain of the yeast PMA1 H+-ATPase disrupt protein folding and biogenesis
, 1998
"... There is strong evidence that Asp-378 of the yeast PMA1 ATPase plays an essential role in ATP hydrolysis by forming a covalent b-aspartyl phosphate reaction in-termediate. In this study, Asp-378 was replaced by Asn, Ser, and Glu, and the mutant ATPases were expressed in a temperature-sensitive secre ..."
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Cited by 5 (0 self)
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There is strong evidence that Asp-378 of the yeast PMA1 ATPase plays an essential role in ATP hydrolysis by forming a covalent b-aspartyl phosphate reaction in-termediate. In this study, Asp-378 was replaced by Asn, Ser, and Glu, and the mutant ATPases were expressed in a temperature
Minireview: ARSENIC, GSTO2 ASN142ASP POLYMORPHISM, HEALTH AND TREATMENT
"... Arsenic is a natural metallic element found in low concentrations in virtually every part of the environment, including waters and foods. The ingestion of arsenic by humans can cause a variety of disorders. Glutathione S-transferase omega (GSTO) is a member of phase II xeno-biotic metabolizing enzym ..."
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enzymes. GSTO2 (a member of GST omega) participates in detoxifica-tion of inorganic arsenic. In human, the A>G transition at nucleotide position 424 of GSTO2 was reported. This variation causes an Asn142Asp substitution. The Asp142 allozyme was expressed at approximately 80 % of the level of Asn142
Analysis of the functional contributions of Asn233 in the IMP-1 metallo-β-lactamase
"... Metallo-β-lactamases, such as IMP-1, are a major global health threat as they provide for bacterial resistance to a wide range of β-lactam antibiotics including carbapenems. Understanding the molecular details of the enzymatic process and the sequence requirements for function are essential aids in ..."
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in overcoming β-lactamase-mediated resistance. An asparagine residue is conserved at position 233 in approximately 67 % of all metallo-β-lactamases. Despite its conservation, the molecular basis of Asn233 function is poorly understood and remains controversial. It has previously been shown that mutations
Association of Breast Cancer Risk with a Common Functional Polymorphism (Asp327Asn) in the
"... Sex hormones play a central role in the development of breast cancer. Sex hormone – binding globulin (SHBG) modulates the bioavailability of circulating sex hormones and regulates their signaling system in the breast tissue. We evaluated the association of a common functional polymor-phism (Asp327As ..."
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Sex hormones play a central role in the development of breast cancer. Sex hormone – binding globulin (SHBG) modulates the bioavailability of circulating sex hormones and regulates their signaling system in the breast tissue. We evaluated the association of a common functional polymor-phism (Asp327
Isosteric Substitution of Asn5 in Antagonists of Oxytocin and Vasopressin Leads to Highly Selective and Potent Oxytocin and Via Receptor Antagonists: New Approaches for the Design of Potential Tocolytics for Preterm Labor’
, 1996
"... Substitution of Asn5 in oxytocin (OT) or vasopressin (VP) invari-ably leads to a dramatic loss of the biological activities of the peptides. Because of this observation, few structure-activity-relationship studies of OT and VP peptides have involved mod-ifications in the 5 position. It is now recogn ..."
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Substitution of Asn5 in oxytocin (OT) or vasopressin (VP) invari-ably leads to a dramatic loss of the biological activities of the peptides. Because of this observation, few structure-activity-relationship studies of OT and VP peptides have involved mod-ifications in the 5 position. It is now
Mutations in gyrA and parC genes in nalidixic acid-resistant Escherichia coli strains obtained from food products, humans and animals
- Journal of Antimicrobial Chemotherapy
, 2003
"... Mutations in quinolone targets were analysed in 80 unrelated nalidixic acid-resistant (NALR) Escherichia coli strains whose nalidixic acid and ciprofloxacin MICs ranged from 32 to>256 mg/L and 0.03–64 mg/L, respectively. These strains were isolated from food products (23) and faecal samples from ..."
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Cited by 9 (2 self)
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A protein was detected in all 61 NALR strains with cipro-floxacin MICs ≤ 2 mg/L with the following substitutions (number of strains): Ser-83→Leu (54), Ser-83→Ala (one), Ser-83→Val (one), Asp-87→Asn (two), Asp-87→Tyr (two) and Asp-87→Gly (one). A double change in GyrA was found in 18 of 19 NALR strains
Substitution of a conserved aspartate allows
, 2001
"... Abstract The prokaryotic tubulin homologue FtsZ polymerizes in vitro in a nucleotide dependent fashion. Here we report that replacement of the strictly conserved Asp212 residue of Escherichia coli FtsZ by a Cys or Asn, but not by a Glu residue results in FtsZ that polymerizes with divalent cations i ..."
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Abstract The prokaryotic tubulin homologue FtsZ polymerizes in vitro in a nucleotide dependent fashion. Here we report that replacement of the strictly conserved Asp212 residue of Escherichia coli FtsZ by a Cys or Asn, but not by a Glu residue results in FtsZ that polymerizes with divalent cations
Arsenic Triglutathione [As(GS) 3 ] Transport by Multidrug Resistance Protein 1 (MRP1/ABCC1) Is Selectively Modified by Phosphorylation of Tyr920/Ser921 and Glycosylation of Asn19/Asn23
"... ABSTRACT The ATP-binding cassette (ABC) transporter multidrug resistance protein 1 (MRP1/ABCC1) is responsible for the cellular export of a chemically diverse array of xenobiotics and endogenous compounds. Arsenic, a human carcinogen, is a high-affinity MRP1 substrate as arsenic triglutathione [As( ..."
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of MRP1-mediated As(GS) 3 transport. The kinetics of As(GS) 3 transport by HEK-Asn19/23Gln/Tyr920Glu/Ser921Glu were similar to HEK-WT-MRP1, indicating that the phosphorylation-mimicking substitutions abrogated the influence of Asn19/23Gln glycosylation. Overall, these data suggest that cross-talk between
Effect of Mutational Alteration of Asn-128 in the Putative GTP-Binding Domain of Tetracycline Resistance Determinant
, 1993
"... The deduced amino acid sequence of Campylobacterjejuni Tet(O), cloned in Escherichia coli, has shown that it contains the five highly conserved sequences of the GTP-binding domain found in other GTPases. Asn-128 belongs to the G4 motif of such a domain and is involved in hydrogen bonding with the gu ..."
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with the guanine ring of the nucleotide. Substitution of Asn-128 by 11 other amino acids resulted in a decrease in tetracycline resistance, indicating that tetracycline resistance conferred by Tet(O) is related to GTP binding. The effect of the mutations on the GTP-binding domain is discussed with the EF
Results 1 - 10
of
211
