A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico +21 more
core +2 more sources
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
A Window on the Genetics of Human Speech: The FOXP2 Gene [PDF]
The development of human speech seems to be a species-specific and genetically determined capacity and is considered an extremely important step in the rise of modern humans, human culture and civilisation.
Barabás, Katalin +3 more
core
Alterations in hepatic miRNA expression during negative energy balance in postpartum dairy cattle [PDF]
peer-reviewedBackground Negative energy balance (NEB), an altered metabolic state, occurs in early postpartum dairy cattle when energy demands to support lactation exceed energy intake.
Fatima, Attia +4 more
core +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Electrolyte disorders in stable renal allograft recipients
BACKGROUND Acid base and electrolyte disorders are frequently reported in the early period after renal transplantation. No comprehensive data exist on the prevalence and patterns of, and contributing factors to, electrolyte disturbances in ...
Georg Beilhack +4 more
doaj +1 more source
Metabolomics application in maternal-fetal medicine [PDF]
Metabolomics in maternal-fetal medicine is still an "embryonic" science. However, there is already an increasing interest in metabolome of normal and complicated pregnancies, and neonatal outcomes. Tissues used for metabolomics interrogations of pregnant
Atzori, L +4 more
core +4 more sources
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +1 more source
Internal Medicine Clerkship Team-Based Learning Series: Acid-Base Module
This team-based learning (TBL) module on acid-base disorders focuses on the evaluation of acid-base status, the pathophysiology of disease that leads to common acid-base disorders, and the initial evaluation and treatment of patients with common acid ...
Steven Bishop +2 more
doaj +1 more source
Iodine and pregnancy – a UK cross-sectional survey of dietary intake, knowledge and awareness [PDF]
Iodine is a key component of the thyroid hormones, which are critical for healthy growth, development and metabolism. The UK population is now classified as mildly iodine-insufficient.
Bouga, M. +4 more
core +2 more sources

