Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

Viridans group streptococci (VGS) are an important cause of sepsis in immunosuppressed children. We reviewed the effectiveness of risk-stratified addition of vancomycin to empiric febrile neutropenia therapy among 107 children with leukemia or undergoing an allogeneic transplant. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

RNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

The presence of membrane-bound organelles with specific functions is one of the main hallmarks of eukaryotic cells. Organelle membranes are composed of specific lipids that govern their function and interorganelle communication. Discoveries in cell biology using imaging and omic technologies have revealed the mechanisms that drive membrane remodeling, organelle contact sites, and metabolite exchange. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• July 2024

330,000 Italians arrived in Australia between 1945 and 1966, many on assisted passage schemes where the worker agreed to a 2 year unskilled employment contract. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• January 2018

The aim of this pilot study was to test the feasibility and acceptability of a family carer intervention for carers of patients with high-grade glioma ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• October 2018

his study aimed to determine how carer distress and psychological morbidity change over time following a patient's diagnosis of high-grade glioma ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• January 2017

This report provides new insight into the functional specialization within the broad network of dendritic cells that are responsible for skin immunosurveillance ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• August 2015

In this rhinovirus study, we first hypothesized that ex vivo human cells response to virus can serve as a proxy for otherwise controversial in vivo human... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• June 2015

To date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• June 2013

Raelene Endersby R BSc (Hons) PhD Brainchild Fellow; Co-Head, Brain Tumour Research raelene.endersby@telethonkids.org.au Co-Head, Brain Tumour Research Raelene was awarded her PhD in 2003 from the Harry Perkins Institute for Medical Research (under ...

• Telethon Kids Institute
• Projects

Mitochondrial ribosomes are specialized for the synthesis of membrane proteins responsible for oxidative phosphorylation. Mammalian mitoribosomes have diverged considerably from the ancestral bacterial ribosomes and feature dramatically reduced ribosomal RNAs. The structural basis of the mammalian mitochondrial ribosome assembly is currently not well understood. Here we present eight distinct assembly intermediates of the human large mitoribosomal subunit involving seven assembly factors. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021