Publications by authors named "W H Spencer"

Objective: To measure current levels and experiences of food and water security in Walgett to guide a community-led program and to provide a baseline measure.

Design: A community-led cross-sectional survey conducted in April 2022 by trained local researchers.

Setting: Walgett, a regional town in NSW, Australia.

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Pathogenic coding mutations are prevalent in human neuronal transcription factors (TFs) but how they disrupt development is poorly understood. Lmx1b is a master transcriptional regulator of postmitotic neurons that give rise to mature serotonin (5-HT) neurons; over two hundred pathogenic heterozygous mutations have been discovered in human yet their impact on brain development has not been investigated. Here, we developed mouse models with different DNA-binding missense mutations.

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Article Synopsis
  • Age-related macular degeneration (AMD) and related macular dystrophies (MDs) primarily impact the retinal pigment epithelium (RPE) with drusen deposits being a key feature in the progression of these diseases.
  • The research indicates that reduced activity of matrix metalloproteinase 2 (MMP2) in RPE contributes to drusen formation by causing sterile inflammation and disrupting lipid balance, interacting with specific receptors and molecules.
  • Therapeutic approaches including MMP2 supplementation and inhibiting RAGE and sPLA2-IIA have shown promise in reducing drusen accumulation in patient-derived RPE cells, highlighting a potential treatment pathway for AMD/MDs.
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Aims: Researchers were invited by Aboriginal leaders to collaborate on this study which aimed to assess food intake in the Walgett Aboriginal community to inform long-term community-led efforts to improve food and water security and nutrition.

Methods: Aboriginal adults living in or near Walgett, a remote community in north-west NSW, Australia, completed an adapted Menzies Remote Short-item Dietary Assessment Tool, which was administered verbally and face-to-face in early 2022. Aboriginal people were involved in the survey design, training and collection, and analysis of data.

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In humans, inositol polyphosphate-5-phosphatase e (INPP5E) mutations cause retinal degeneration as part of Joubert and MORM syndromes and can also cause non-syndromic blindness. In mice, mutations cause a spectrum of brain, kidney, and other anomalies and prevent the formation of photoreceptor outer segments. To further explore the function of Inpp5e in photoreceptors, we generated conditional and inducible knockouts of mouse Inpp5e where the gene was deleted either during outer segment formation or after outer segments were fully formed.

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