Results 31 to 40 of about 49,487 (207)

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]

, 2004
Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark, Alex F Markham, B Hagberg, BG Condie, C Geoffrey Woods, CL Fawer, Clare N Lynex, CM Wiles, David T Bonthon, DF Bu, DF Bu, DJ Stone, DL Martin, DL Martin, DP McHale, DP McHale, E Maestrini, Eamonn R Maher, F Sandbrink, G Gaffney, GE Homanics, H Asada, H Mitoma, HM Meinck, I Hughes, Ian M Carr, J Kim, J Volpe, Jack P Leek, JO Forfar, JS Lappalainen, K Burk, K Dinkel, KCK Kuban, KH Gustavson, LM Dubowitz, LM Levy, M Baraitser, M Solimena, M Solimena, MC Dalakas, MG Erlander, MH Butler, N Laprade, N Paneth, POD Pharoah, PS Eicher, PT Bosma, Rajgopal Achuthan, RW Bond, S Bundey, S Chattopadhyay, S Kono, S Kure, S Mitchell, SD Chessler, Simon Mitchell, V Cormier-Daire   +57 more
core   +2 more sources

Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1) gene that leads to reduced levels of SMN protein resulting in degeneration of motor neurons (MNs).
Berciano, Maria T., Calderó i Pardo, Jordi, Lafarga, Miguel, Narcís, Oriol J., Piedrafita Llorens, Lídia, Riancho, Javier, Tapia, Olga, Tarabal Mostazo, Olga   +7 more
core   +2 more sources

Group I Intron Internal Guide Sequence Binding Strength as a Component of Ribozyme Network Formation

Molecules, 2016
Origins-of-life research requires searching for a plausible transition from simple chemicals to larger macromolecules that can both hold information and catalyze their own production.
Laura Elizabeth Satterwhite, Jessica A. M. Yeates, Niles Lehman   +2 more
doaj   +1 more source

The angiotensin-converting enzyme (ACE) gene family of Anopheles gambiae [PDF]

, 2005
Background Members of the M2 family of peptidases, related to mammalian angiotensin converting enzyme (ACE), play important roles in regulating a number of physiological processes.
Burnham, S., Isaac, R.E., Lee, A.J., Shirras, A.D., Smith, J.A.   +4 more
core   +4 more sources

Accumulation of Stable Full-Length Circular Group I Intron RNAs during Heat-Shock

Molecules, 2016
Group I introns in nuclear ribosomal RNA of eukaryotic microorganisms are processed by splicing or circularization. The latter results in formation of full-length circular introns without ligation of the exons and has been proposed to be active in intron
Kasper L. Andersen, Bertrand Beckert, Benoit Masquida, Steinar D. Johansen, Henrik Nielsen   +4 more
doaj   +1 more source

Cu,Zn superoxide dismutase genes in Tribolium castaneum: evolution, molecular characterisation and gene expression during immune priming. [PDF]

, 2017
The production of reactive oxygen species (ROS) is a normal consequence of the aerobic cell metabolism. Despite their high and potentially detrimental reactivity with various biomolecules, the endogenous production of ROS is a vital part of physiological,
Bakiu, Rigers, Corr\ue0, Francesca, Ferro, Diana, Kevin, Ferro, Kurtz, Joachim, Santovito, Gianfranco   +5 more
core   +2 more sources

RNA-Seq analysis of splicing in Plasmodium falciparum uncovers new splice junctions, alternative splicing and splicing of antisense transcripts. [PDF]

, 2011
Over 50% of genes in Plasmodium falciparum, the deadliest human malaria parasite, contain predicted introns, yet experimental characterization of splicing in this organism remains incomplete.
DeRisi, Joseph L, Dimon, Michelle T, Sorber, Katherine   +2 more
core   +3 more sources

The Comparative RNA Web (CRW) Site: an online database of comparative sequence and structure information for ribosomal, intron, and other RNAs

BMC Bioinformatics, 2002
Background Comparative analysis of RNA sequences is the basis for the detailed and accurate predictions of RNA structure and the determination of phylogenetic relationships for organisms that span the entire phylogenetic tree.
Müller Kirsten M, Madabusi Lakshmi V, Lin Nan, Feng Brian, Du Yushi, D'Souza Lisa M, Collett James R, Schnare Murray N, Subramanian Sankar, Cannone Jamie J, Pande Nupur, Shang Zhidi, Yu Nan, Gutell Robin R   +13 more
doaj   +1 more source

PARP-3 and APLF function together to accelerate nonhomologous end joining [PDF]

, 2010
PARP-3 is a member of the ADP-ribosyl transferase superfamily of unknown function. We show that PARP-3 is stimulated by DNA double-strand breaks (DSBs) in vitro and functions in the same pathway as the poly (ADP-ribose)-binding protein APLF to accelerate
Ahel, Ame, Anna E.O. Fisher, Audebert, Bekker-Jensen, Benjamin, Bernardo Reina-San-Martin, Boulton, Brown, Bryant, Bryant, Caldecott, Caldecott, Critchlow, Ding, Drouet, El-Khamisy, Farmer, Fisher, Grawunder, Guy Poirier, Hochegger, Hottiger, Iles, Isabelle Robert, Kanno, Keith W. Caldecott, Kickhoefer, Kleine, Le Page, Lehtio, Limei Ju, Lobrich, Loseva, Macrae, Mahaney, Maria C. Zuma, Mehrotra, Michele Rouleau, Morrison, Okano, Otto, Poirier, Robert, Roberts, Rogakou, Rogakou, Rouleau, Rulten, Smith, Soulas-Sprauel, Stevnsner, Stuart L. Rulten, Sugimura, Trucco, Wang, Yan, Yang, Yano, Yano   +59 more
core   +1 more source

Force for ancient and recent life: viral and stem-loop RNA consortia promote life. [PDF]

, 2014
Lytic viruses were thought to kill the most numerous host (i.e., kill the winner). But persisting viruses/defectives can also protect against viruses, especially in a ubiquitous virosphere. In 1991, Yarmolinsky et al.
Villarreal, Luis P
core   +1 more source