Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Several studies have reported WDR73 mutations to be causative of Galloway-Mowat syndrome, a rare disorder characterised by the association of neurological defects and renal-glomerular disease. In this study, we demonstrate interaction of WDR73 with the INTS9 and INTS11 components of Integrator, a large multiprotein complex with various roles in RNA metabolism and transcriptional control. We implicate WDR73 in two Integrator-regulated cellular pathways; namely, the processing of uridylate-rich small nuclear RNAs (UsnRNA), and mediating the transcriptional response to epidermal growth factor stimulation.

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease. Lack of data about long-term follow-up makes it difficult to discuss timing and type of organ transplantation. Our objectives were to evaluate long-term evolution and indications for transplantation, from birth to adulthood.

Retromer associates with the cytoplasmic amino-terminus of polycystin-2.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either or , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2), respectively.

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding podocin with a p.R138Q amino acid substitution is the most frequent pathogenic variant in European and North American children, and the corresponding mutant protein is poorly expressed and retained in the endoplasmic reticulum both and To better understand the defective trafficking and degradation of this mutant, we generated human podocyte cell lines stably expressing podocin or podocin Although it has been proposed that podocin has a hairpin topology, we present evidence for podocin-glycosylation, suggesting that most of the protein has a transmembrane topology.

Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.

The retromer complex acts as a scaffold for endosomal protein complexes that sort integral membrane proteins to various cellular destinations. The retromer complex is a heterotrimer of VPS29, VPS35, and VPS26. Two of these paralogues, VPS26A and VPS26B, are expressed in humans.

Integration of the Rac1- and actin-binding properties of Coronin-1C.

The coronin family of actin-binding proteins regulate actin branching by inhibiting Arp2/3. We recently reported 2 interactions that were unique to coronin-1C: binding of a Rac1 inhibitor, RCC2, to the unique linker region and Rac1 itself to the propeller domain in a manner that differs from that proposed for other coronins. Through these interactions coronin-1C redistributes Rac1 from the back of the cell to the leading edge for either activation or sequestration by the associated Rac1-inhibitor, RCC2.

Salty or sweet? Nutritional quality, consumption, and cost of snacks served in afterschool programs.

Background: Snacks served in afterschool programs (ASPs, 3-6 pm) represent an important opportunity to promote healthy eating. ASP policies suggest a fruit/vegetable is served daily, while sugar-sweetened foods/beverages and artificially flavored snacks are eliminated. Limited information exists on the types of snacks served in ASPs, if snacks meet existing nutrition policies, whether children eat the snacks, and their cost.

Community partnership to address snack quality and cost in after-school programs.

Background: Policies call on after-school programs (ASPs) to serve more nutritious snacks. A major barrier for improving snack quality is cost. This study describes the impact on snack quality and expenditures from a community partnership between ASPs and local grocery stores.

Children select unhealthy choices when given a choice among snack offerings.

Out-of-school-time programs serve snacks to millions of children annually. State and national snack policies endorse serving more-healthful options, such as fruits, yet often allow less-healthful options, such as cookies and chips, to be served simultaneously. To date, no studies have examined the choices children make when provided with disparate snack options in out-of-school-time programs.

Evaluation of compliance to national nutrition policies in summer day camps.

Objective: The National Afterschool Association (NAA) standards specify the role of summer day camps (SDC) in promoting healthy nutrition habits of the children attending, identifying foods and beverages to be provided to children and staff roles in promoting good nutrition habits. However, many SDC do not provide meals. Currently, national guidelines specifying what children are allowed to bring to such settings do not exist, nor is there a solid understanding of the current landscape surrounding healthy eating within SDC.

Increasing fruit, vegetable and water consumption in summer day camps--3-year findings of the healthy lunchbox challenge.

The objective of this study was to describe the 3-year outcomes (2011-2013) from the healthy lunchbox challenge (HLC) delivered in the US-based summer day camps (SDC) (8-10 hours day(-1), 10-11 weeks summer(-1), SDC) to increase children and staff bringing fruit, vegetables and water (FVW) each day. A single group pre- with multiple post-test design was used in four large-scale SDCs serving more than 550 children day(-1) (6-12 years). The percentage of foods/beverages brought by children/staff, staff promotion of healthy eating and children's consumption of FVW was assessed via direct observation over 98 days across three summers.

Healthy eating in summer day camps: the Healthy Lunchbox Challenge.

Objective: To describe the development and evaluation of Healthy Lunchbox Challenge, a nutrition program targeting staff, parents, and children in summer day camps (SDCs).

Methods: A single-group, pre/post-assessment design was used during summer, 2011(baseline) and 2012 (intervention). Four community-based SDCs in South Carolina participated.

From policy to practice: addressing snack quality, consumption, and price in after-school programs.

Objective: To evaluate a community partnership between after-school programs (ASPs) and grocery stores to provide discounted pricing on snacks to meet the National Afterschool Association Healthy Eating Standards that call for serving a fruit or vegetable (FV) daily while eliminating sugar-based foods and beverages.

Methods: A single-group, pretest with multiple posttest design (spring, 2011-2013) in 4 large-scale ASPs serving 500 children/d was used, along with direct observation of snacks served, consumed, and cost.

Results: At baseline, FV, sugar-sweetened beverages, and desserts were served 0.

Pedometer-determined step-count guidelines for afterschool programs.

Background: Policies to require afterschool programs (ASPs, 3 PM to 6 PM) to provide children a minimum of 30 minutes of moderate-to-vigorous physical activity (MVPA) exist. With few low-cost, easy-to-use measures of MVPA available to the general public, ASP providers are limited in their ability to track progress toward achieving this policy-goal. Pedometers may fill this gap, yet there are no step-count guidelines for ASPs linked to 30 minutes of MVPA.

Nutritional policies and standards for snacks served in after-school programmes: a review.

Objective: To review and synthesize existing national and state organizations' policies related to the nutritional quality of snacks served in after-school programmes (ASP; 15.00-18.00 hours) in the USA.

Evaluation of policies to promote physical activity in afterschool programs: are we meeting current benchmarks?

Background: Policies now recommend afterschool programs (ASP, 3-6 pm) provide children a minimum amount of physical activity daily. We examined the extent to which children attending ASPs meet existing national and state-level policies that specify expected levels of physical activity (PA).

Methods: Accelerometer-derived physical activity (light and moderate-to-vigorous, MVPA) of 253 children (5-13 years) was compared to policies that recommend varying amounts of PA children should achieve during an ASP.