Results 81 to 90 of about 2,130,071 (305)

The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta [PDF]

, 2012
Background: The first human mycobacterial susceptibility gene was identified amongst four children on the island of Malta in 1995. All affected children were homozygous for a nonsense mutation at position 395 of the interferon gamma receptor 1 (IFNGR1 ...
Levin, Mike, Attard Montalto, Simon, Mangion, Mariella, Hibberd, Martin, Felice, Alex, Anderson, Suzanne T., Newport, Melanie J.   +6 more
core  

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

Structural and biochemical analysis of a B12 superbinder

FEBS Letters, EarlyView.
BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices, Jacob J. Whittaker, Dirk J. Slotboom, Albert Guskov   +3 more
wiley   +1 more source

A rigorous evaluation of crossover and mutation in genetic programming [PDF]

, 2009
The role of crossover and mutation in Genetic Programming (GP) has been the subject of much debate since the emergence of the field. In this paper, we contribute new empirical evidence to this argument using a rigorous and principled experimental method ...
David R. White, White, D.R., Poulding, S., Simon Poulding   +3 more
core   +1 more source

Timing the initiation of multiple myeloma

Nature Communications, 2020
The initial mutational processes and how these lead to progression in multiple myeloma (MM) are unclear. Here, the authors identify mutational signatures that occur over time in a large cohort of MM patients and suggest features that may help in early ...
Even H. Rustad, Venkata Yellapantula, Daniel Leongamornlert, Niccolò Bolli, Guy Ledergor, Ferran Nadeu, Nicos Angelopoulos, Kevin J. Dawson, Thomas J. Mitchell, Robert J. Osborne, Bachisio Ziccheddu, Cristiana Carniti, Vittorio Montefusco, Paolo Corradini, Kenneth C. Anderson, Philippe Moreau, Elli Papaemmanuil, Ludmil B. Alexandrov, Xose S. Puente, Elias Campo, Reiner Siebert, Herve Avet-Loiseau, Ola Landgren, Nikhil Munshi, Peter J. Campbell, Francesco Maura   +25 more
doaj   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy   +27 more
core   +1 more source

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

FEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge, Vivian Pogenberg, Alexander Baumgart, Bente Siebels, Hartmut Schlüter, Michael Hecht‐Bucher, Aymelt Itzen   +6 more
wiley   +1 more source

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers [PDF]

, 2004
<p>Introduction: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier ...
Antoniou, A.C., Spurdle, A.B., Cook, M.R., Purdie, David M., Susan Peock, Hopper, John L., Easton, Douglas, Newman, B, kConFaB, Antoniou, AC, Kelemen, Livia, Tobias, E.S., Smith, Paula, Pandeya, N, Giles, GG, Beth Newman, Giles, Graham, Chenevix-Trench, Georgia, Cook, Margaret, Apicella, Carmel, Nirmala Pandeya, Easton, Douglas F., Melissa C Southey, Southey, M.C., Antoniou, Antonis, Purdie, David, Chenevix-Trench, G, Cook, MR, Peock, Susan, Apicella, C., Giles, G.G., Apicella, C, Purdie, D.M., Xiaoqing Chen, Antoniou, Antonis C., David L Duffy, Margaret R Cook, Duffy, David, Newman, Beth, ABCFS, Duffy, D.L., Pandeya, N., Amanda B Spurdle, Dite, Gillian S., Giles, Graham G., Georgia Chenevix-Trench, Smith, Paula L., Newman, B., Gillian S Dite, Hopper, J.L., John L Hopper, Southey, MC, Chen, Xiaoqing, Chen, X., Cook, Margaret R., Chen, X, Duffy, David L., EMBRACE Study Collaborators, Purdie, DM, Hopper, JL, Easton, D.F., Dite, Gillian, Douglas F Easton, David M Purdie, Southey, Melissa, Smith, P.L., AJBCS, Chenevix-Trench, G., Dite, GS, Spurdle, Amanda, Peock, S., Antonis C Antoniou, Chevenix-Trench, Georgia, Dite, G.S., Spurdle, Amanda B., Carmel Apicella, Spurdle, AB, Kelemen, L., Pandeya, Nirmala, Smith, PL, Kelemen, L, Easton, DF, Southey, Melissa C., Paula L Smith, Hopper, John, Livia Kelemen, Duffy, DL, Peock, S, Graham G Giles   +88 more
core   +3 more sources

Determinate Mutation [PDF]

Science, 1905
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openaire   +3 more sources