MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.

Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and homozygous mutations in MAPRE2 were found to be causal for this disease. MAPRE2 encodes for a member of evolutionary conserved microtubule plus end tracking proteins, the end binding (EB) family.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue deficiency.

is mutated in Parkinson's disease (PD), and mutations cause mitochondrial defects that include inefficient electron transport between complex I and ubiquinone. Neurodegeneration is also connected to changes in lipid homeostasis, but how these are related to PINK1-induced mitochondrial dysfunction is unknown. Based on an unbiased genetic screen, we found that partial genetic and pharmacological inhibition of fatty acid synthase (FASN) suppresses toxicity induced by PINK1 deficiency in flies, mouse cells, patient-derived fibroblasts, and induced pluripotent stem cell-derived dopaminergic neurons.

A LRRK2-Dependent EndophilinA Phosphoswitch Is Critical for Macroautophagy at Presynaptic Terminals.

Synapses are often far from the soma and independently cope with proteopathic stress induced by intense neuronal activity. However, how presynaptic compartments turn over proteins is poorly understood. We show that the synapse-enriched protein EndophilinA, thus far studied for its role in endocytosis, induces macroautophagy at presynaptic terminals.

Near-infrared 808 nm light boosts complex IV-dependent respiration and rescues a Parkinson-related pink1 model.

Mitochondrial electron transport chain (ETC) defects are observed in Parkinson's disease (PD) patients and in PD fly- and mouse-models; however it remains to be tested if acute improvement of ETC function alleviates PD-relevant defects. We tested the hypothesis that 808 nm infrared light that effectively penetrates tissues rescues pink1 mutants. We show that irradiating isolated fly or mouse mitochondria with 808 nm light that is absorbed by ETC-Complex IV acutely improves Complex IV-dependent oxygen consumption and ATP production, a feature that is wavelength-specific.

Non-breeding song rate reflects nutritional condition rather than body condition.

Numerous studies have focused on song in songbirds as a signal involved in mate choice and intrasexual competition. It is expected that song traits such as song rate reflect individual quality by being dependent on energetic state or condition. While seasonal variation in bird song (i.

Endocrine disrupting, haematological and biochemical effects of polybrominated diphenyl ethers in a terrestrial songbird, the European starling (Sturnus vulgaris).

We exposed female European starlings (Sturnus vulgaris) during a 6month period to environmentally relevant concentrations of a pentabromodiphenyl ether (Penta-BDE) mixture (about 1740μg/kg body weight) through subcutaneous implants, and examined endocrine disruptive, haematological and biochemical effects. To investigate endocrine disrupting effects of PBDEs, testosterone, estradiol and thyroid hormones (T(3) and T(4)) were measured in the plasma. We found no significant differences between the control and exposed groups for any of the hormones.

Haematological status of wintering great tits (Parus major) along a metal pollution gradient.

In the long-term biomonitoring of wild populations inhabiting polluted areas, the use of non-destructive biomarkers as markers of condition is very important. We examined the possible effects of metal pollution on the haematological status of adult great tits (Parus major) along a well-established pollution gradient near a non-ferrous smelter in Belgium. We measured blood and feather metal concentrations and assessed the haematological status (amount of red blood cells, haemoglobin concentration, haematocrit, mean corpuscular volume and mean corpuscular haemoglobin) of adult great tits during winter at four study sites.

Does anthropogenic metal pollution affect carotenoid colouration, antioxidative capacity and physiological condition of great tits (Parus major)?

Although several studies have shown that carotenoid-based signals are negatively affected by (metal) pollution, the underlying mechanisms are not well understood. There are two possible, not mutually exclusive, hypotheses to explain the metal-induced fading of carotenoid colouration. Metal pollution could affect oxidative stress levels and/or the diet.