Amino Acid Substitution

Publication Title: 
International Journal of Nanomedicine

Platinum nanoparticle (Pt-np) species are superoxide dismutase/catalase mimetics and also have an activity similar to that of mitochondrial electron transport complex I. To examine if this complex I-like activity functions in vivo, we studied the effects of Pt-nps on the lifespan of a mitochondrial complex I-deficient Caenorhabditis elegans mutant, nuo-1 (LB25) compared with wild-type N2. We synthesized a fusion protein of a cell-penetrating peptide, human immunodeficiency virus-1 TAT (48-60), C-terminally linked to a peptide with a high affinity to platinum (GRKKRRQRRRPPQ-DRTSTWR).

Author(s): 
Sakaue, Yuri
Kim, Juewon
Miyamoto, Yusei
Publication Title: 
Human Molecular Genetics

In amyotrophic lateral sclerosis (ALS), the progressive loss of motor neurons is accompanied by extensive muscle denervation, resulting in paralysis and ultimately death. Upregulation of amyloid beta (A4) precursor protein (APP) in muscle fibres coincides with symptom onset in both sporadic ALS patients and the SOD1(G93A) mouse model of familial ALS.

Author(s): 
Bryson, J. Barney
Hobbs, Carl
Parsons, Michael J.
Bosch, Karen D.
Pandraud, Amelie
Walsh, Frank S.
Doherty, Patrick
Greensmith, Linda
Publication Title: 
Molecular Cell

Forkhead box O (FOXO; DAF-16 in worms) transcription factors, which are of vital importance in cell-cycle control, stress resistance, tumor suppression, and organismal lifespan, are largely regulated through nucleo-cytoplasmic shuttling. Insulin signaling keeps FOXO/DAF-16 cytoplasmic, and hence transcriptionally inactive. Conversely, as in loss of insulin signaling, reactive oxygen species (ROS) can activate FOXO/DAF-16 through nuclear accumulation. How ROS regulate the nuclear translocation of FOXO/DAF-16 is largely unknown.

Author(s): 
Putker, Marrit
Madl, Tobias
Vos, Harmjan R.
de Ruiter, Hesther
Visscher, Marieke
van den Berg, Maaike C. W.
Kaplan, Mohammed
Korswagen, Hendrik C.
Boelens, Rolf
Vermeulen, Michiel
Burgering, Boudewijn M. T.
Dansen, Tobias B.
Publication Title: 
Molecular Psychiatry

Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable, neurodevelopmental disorder with onset in early childhood. Genes involved in neuronal development and growth are, thus, important etiological candidates and brain-derived neurotrophic factor (BDNF), has been hypothesized to play a role in the pathogenesis of ADHD. BDNF is a member of the neurotrophin family and is involved in the survival and differentiation of dopaminergic neurons in the developing brain (of relevance because drugs that block the dopamine transporter can be effective therapeutically).

Author(s): 
Kent, L.
Green, E.
Hawi, Z.
Kirley, A.
Dudbridge, F.
Lowe, N.
Raybould, R.
Langley, K.
Bray, N.
Fitzgerald, M.
Owen, M. J.
O'Donovan, M. C.
Gill, M.
Thapar, A.
Craddock, N.
Publication Title: 
American Journal of Medical Genetics

Only recently have studies of electrocortical activity, event-related potentials, and regional cerebral blood flow begun to shed light on the anatomical and neurobiological underpinnings of hypnosis. Since twin studies show a significant heritable component for hypnotizability, we were prompted to examine the role of a common, functional polymorphism in contributing to individual differences in hypnotizability. A group of 109 subjects (51 male, 59 female) were administered three psychological instruments and tested for the high/low enzyme activity COMT val-->met polymorphism.

Author(s): 
Lichtenberg, P.
Bachner-Melman, R.
Gritsenko, I.
Ebstein, R. P.
Publication Title: 
Acta Tropica

We genotyped 160 P. falciparum infections from Malawi for pfmdr-1 copy number changes and SNPs associated with in vivo tolerance and poor in vitro sensitivity to the component drugs of Coartem. We also measured in vitro susceptibility of 49 of these isolates to a variety of drugs in clinical use or with a potential for use in Africa. All 160 infections carried a single copy of pfmdr-1 but 34% exhibited sequence variation at 4 of the 5 polymorphic sites in pfmdr-1.

Author(s): 
Nkhoma, Standwell
Nair, Shalini
Mukaka, Mavuto
Molyneux, Malcolm E.
Ward, Stephen A.
Anderson, Timothy J. C.
Publication Title: 
International journal of infectious diseases: IJID: official publication of the International Society for Infectious Diseases

OBJECTIVE: The objective of this study was to determine the frequency of dhfr and dhps resistance-associated haplotypes in Plasmodium falciparum isolates, three years after the introduction of sulfadoxine-pyrimethamine (SP) as the first-line antimalarial treatment in Iran. METHODS: Blood samples (N=182) were collected from patients presenting with falciparum malaria from southeastern Iran, and analyzed by nested-PCR/restriction fragment length polymorphism, followed by sequencing analysis.

Author(s): 
Zakeri, Sedigheh
Farahani, Maryam Shahrabi
Afsharpad, Mandana
Salehi, Masoud
Raeisi, Ahmad
Djadid, Navid Dinparast
Publication Title: 
The Journal of Infectious Diseases

BACKGROUND: In 2008, Guinea-Bissau introduced artemether-lumefantrine for treatment of uncomplicated malaria. Previously, 3 times the standard dose of chloroquine, that was probably efficacious against Plasmodium falciparum with the resistance-associated chloroquine-resistance transporter (pfcrt) 76T allele, was routinely used. The present study compared the efficacy and tolerability of a double standard dose of chloroquine with the efficacy and tolerability of artemether-lumefantrine.

Author(s): 
Ursing, Johan
Kofoed, Poul-Erik
Rodrigues, Amabelia
Blessborn, Daniel
Thoft-Nielsen, Rikke
Björkman, Anders
Rombo, Lars
Publication Title: 
The Journal of Infectious Diseases

BACKGROUND: In 2005, Ghana adopted artemisinin-based combination therapy (ACT) for primary treatment of falciparum malaria. A comprehensive study of the drug-resistance-associated mutations and their genetic lineages will lead to a better understanding of the evolution of antimalarial drug resistance in this region. METHODS: The pfcrt, pfmdr1, dhps, and dhfr mutations associated with chloroquine (CQ) and sulfadoxine-pyrimethamine (SP) resistance and the microsatellite loci flanking these genes were genotyped in Plasmodium falciparum isolates from Ghana.

Author(s): 
Alam, Md Tauqeer
de Souza, Dziedzom K.
Vinayak, Sumiti
Griffing, Sean M.
Poe, Amanda C.
Duah, Nancy O.
Ghansah, Anita
Asamoa, Kwame
Slutsker, Laurence
Wilson, Michael D.
Barnwell, John W.
Udhayakumar, Venkatachalam
Koram, Kwadwo A.
Publication Title: 
Malaria Journal

BACKGROUND: The mutations in Plasmodium falciparum chloroquine resistance transporter (pfcrt), multidrug resistance 1 (pfmdr1), dihydrofolate reductase (pfdhfr), dihydropteroate synthase (pfdhps) and ATPase (pfatp6) genes were associated with anti-malaria drug resistance. The aim of this study was to investigate the prevalence of polymorphisms in pfcrt, pfmdr1, pfdhfr, pfdhps and pfatp6 in Yunnan Province. Finger-prick blood samples were collected from malaria-positive patients from Yunnan Province in 2009-2010.

Author(s): 
Huang, Fang
Tang, Linhua
Yang, Henglin
Zhou, Shuisen
Liu, Hui
Li, Junwei
Guo, Shaohua

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