Mitochondria are hubs of metabolic activity with a major role in ATP conversion by oxidative phosphorylation (OXPHOS). The mammalian mitochondrial genome encodes 11 mRNAs encoding 13 OXPHOS proteins along with 2 rRNAs and 22 tRNAs, that facilitate their translation on mitoribosomes. ...

• 1. Telethon Kids Institute
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• 2024
• May 2024

Sarcomeric gene mutations are associated with the development of hypertrophic cardiomyopathy (HCM). Current drug therapeutics for HCM patients are effective in relieving symptoms, but do not prevent or reverse disease progression. Moreover, due to heterogeneity in the clinical manifestations of the disease, patients experience variable outcomes in response to therapeutics. ...

• 1. Telethon Kids Institute
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• 2021
• July 2021

Transcription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs. ...

• 1. Telethon Kids Institute
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• Reports and Findings
• 2021
• November 2021

Senior research officer ...

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Timo Chin Wee Timothy Chapman Kathryn Farley Published in science published in nature published in nature published in nature published in nature ...

• 1. Telethon Kids Institute
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• Chronic and Severe Diseases
• Precision Health

Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for ...

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The structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function.  ...

• 1. Telethon Kids Institute
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• 2024
• January 2024

Siblings of individuals with neurodevelopmental conditions (NDCs) have greater incidence of neuropsychiatric diagnoses and neurocognitive difficulties compared to siblings of persons without NDCs. Despite suicidality being labelled a global health crisis (WHO, 2014) and NDC siblings experiencing risk factors implicated in suicidality, no previous studies examined suicidality amongst adolescent and young adult siblings of persons with NDCs. Our study aimed to bridge this gap. ...

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• 2023
• July 2023

Canonical RNA processing in mammalian mitochondria is defined by tRNAs acting as recognition sites for nucleases to release flanking transcripts. The relevant factors, their structures, and mechanism are well described, but not all mitochondrial transcripts are punctuated by tRNAs, and their mode of processing has remained unsolved. ...

• 1. Telethon Kids Institute
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• 2022
• September 2022

This exciting new edition includes several new chapters that deliver an even more robust and high quality resource. It examines issues across the life course,.. ...

• 1. Telethon Kids Institute
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• 2011
• July 2011