RPS19 mutations in patients with Diamond‐Blackfan anemia

MF Campagnoli, U Ramenghi, M Armiraglio… - Human …, 2008 - Wiley Online Library
Diamond‐Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid
aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face …

Structural and functional specialization of OSBP-related proteins

V Delfosse, W Bourguet, G Drin - Contact, 2020 - journals.sagepub.com
Lipids are precisely distributed in the eukaryotic cell where they help to define organelle
identity and function, in addition to their structural role. Once synthesized, many lipids must …

Spliceator: multi-species splice site prediction using convolutional neural networks

N Scalzitti, A Kress, R Orhand, T Weber, L Moulinier… - BMC …, 2021 - Springer
Background Ab initio prediction of splice sites is an essential step in eukaryotic genome
annotation. Recent predictors have exploited Deep Learning algorithms and reliable gene …

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

C Lagier-Tourenne, M Tazir, LC López… - The American Journal of …, 2008 - cell.com
Muscle coenzyme Q 10 (CoQ 10 or ubiquinone) deficiency has been identified in more than
20 patients with presumed autosomal-recessive ataxia. However, mutations in genes …

Metabolic engineering of monoterpene synthesis in yeast

MJC Fischer, S Meyer, P Claudel… - Biotechnology and …, 2011 - Wiley Online Library
Terpenoids are one of the largest and most diverse families of natural compounds. They are
heavily used in industry, and the trend is toward engineering modified microorganisms that …

Structure of a light-activated LOV protein dimer that regulates transcription

AT Vaidya, CH Chen, JC Dunlap, JJ Loros… - Science …, 2011 - science.org
Light, oxygen, or voltage (LOV) protein domains are present in many signaling proteins in
bacteria, archaea, protists, plants, and fungi. The LOV protein VIVID (VVD) of the filamentous …

[HTML][HTML] Structured mRNAs regulate translation initiation by binding to the platform of the ribosome

S Marzi, AG Myasnikov, A Serganov, C Ehresmann… - Cell, 2007 - cell.com
Gene expression can be regulated at the level of initiation of protein biosynthesis via
structural elements present at the 5′ untranslated region of mRNAs. These folded mRNA …

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

I Audo, K Bujakowska, E Orhan, CM Poloschek… - The American Journal of …, 2012 - cell.com
Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder
characterized by visual impairment under low light conditions. This disorder is due to a …

Effects of single nucleotide polymorphisms on Toll-like receptor 3 activity and expression in cultured cells

CT Ranjith-Kumar, W Miller, J Sun, J Xiong… - Journal of Biological …, 2007 - ASBMB
Recognition of double-stranded RNA by Toll-like receptor 3 (TLR3) will increase the
production of cytokines and chemokines through transcriptional activation by the NF-κB …

Conformational transition of initiation factor 2 from the GTP-to GDP-bound state visualized on the ribosome

AG Myasnikov, S Marzi, A Simonetti… - Nature structural & …, 2005 - nature.com
Initiation of protein synthesis is a universally conserved event that requires initiation factors
IF1, IF2 and IF3 in prokaryotes. IF2 is a GTPase essential for binding initiator transfer RNA to …