Publications by authors named "Aidan Porter"

The maintenance of fluid and electrolyte homeostasis by the kidney requires proper folding and trafficking of ion channels and transporters in kidney epithelia. Each of these processes requires a specific subset of a diverse class of proteins termed molecular chaperones. One such chaperone is GRP170, which is an Hsp70-like, endoplasmic reticulum (ER)-localized chaperone that plays roles in protein quality control and protein folding in the ER.

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The maintenance of fluid and electrolyte homeostasis by the kidney requires proper folding and trafficking of ion channels and transporters in kidney epithelia. Each of these processes requires a specific subset of a diverse class of proteins termed molecular chaperones. One such chaperone is GRP170, which is an Hsp70-like, endoplasmic reticulum (ER)-localized chaperone that plays roles in protein quality control and protein folding in the ER.

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Article Synopsis
  • Bartter syndrome is a rare genetic disorder affecting kidney function by impairing electrolyte reabsorption, leading to potentially fatal conditions like hyponatremia and dehydration, with type II linked to mutations in the KCNJ1 gene.
  • The study focused on identifying new, uncharacterized mutations in KCNJ1 that may cause disease by using genomic databases and advanced computational tools to analyze phenotypic and genomic data, particularly from the UK Biobank, NIH TOPMed, and ClinVar.
  • Two mutations were highlighted: G228E, which destabilizes the potassium channel ROMK and leads to its degradation, and T300R, which is resistant to ER degradation but shows impaired channel activity, suggesting that these findings can help
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Graphenic materials have excited the scientific community due to their exciting mechanical, thermal, and optoelectronic properties for a potential range of applications. Graphene and graphene derivatives have demonstrated application in areas stretching from composites to medicine; however, the environmental and health impacts of these materials have not been sufficiently characterized. Graphene oxide (GO) is one of the most widely used graphenic derivatives due to a relatively easy and scalable synthesis, and the ability to tailor the oxygen containing functional groups through further chemical modification.

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Article Synopsis
  • Bartter syndrome is a rare genetic disorder affecting kidney function by disrupting electrolyte reabsorption, leading to severe health issues if untreated, including fatal hyponatremia and hypokalemia.
  • The study focuses on Bartter syndrome type II, which is linked to mutations in the ROMK gene; researchers identified over 40 associated mutations but most remain poorly understood.
  • Utilizing genomic databases and computational tools, the study discovered four new mutations in ROMK that affect its stability and function, with some mutations leading to premature degradation of the protein while others demonstrated resistance to degradation.
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All cell types must maintain homeostasis under periods of stress. To prevent the catastrophic effects of stress, all cell types also respond to stress by inducing protective pathways. Within the cell, the endoplasmic reticulum (ER) is exquisitely stress-sensitive, primarily because this organelle folds, posttranslationally processes, and sorts one-third of the proteome.

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Molecular chaperones are responsible for maintaining cellular homeostasis, and one such chaperone, GRP170, is an endoplasmic reticulum (ER) resident that oversees both protein biogenesis and quality control. We previously discovered that GRP170 regulates the degradation and assembly of the epithelial sodium channel (ENaC), which reabsorbs sodium in the distal nephron and thereby regulates salt-water homeostasis and blood pressure. To define the role of GRP170 - and, more generally, molecular chaperones in kidney physiology - we developed an inducible, nephron-specific GRP170-KO mouse.

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Objective: To test the hypothesis that hybrid functional electrical stimulation (FES) row training would improve aerobic capacity but that it would remain strongly linked to level of spinal cord lesion because of limited maximal ventilation.

Design: Longitudinal before-after trial of 6 months of FES row training.

Setting: Exercise for persons with disabilities program in a hospitaL.

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Objective: The aim of this study was to determine whether the relationship between impaired pulmonary function and level of spinal cord injury would relate to lower maximal ventilation during exercise (Vemax) and hence reduced aerobic capacity.

Design: Pulmonary function and maximal aerobic capacity (V˙O2max) were assessed as measured by maximal oxygen uptake in 20 men with complete spinal cord injury (C5-T11). Static and dynamic lung volumes (forced vital capacity, forced expiratory volume in 1 sec, and maximum voluntary ventilation) were measured by spirometry.

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