Publications by authors named "J L Patat"
Lysosomes orchestrate degradation and recycling of exogenous and endogenous material thus controlling cellular homeostasis. Little is known how this organelle changes during cancer. Here we investigate the intracellular landscape of lysosomes in a cellular model of bladder cancer.
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- N-threonyl-carbamoylation of adenosine 37 in ANN-type tRNAs is crucial for accurate protein translation, utilizing the YRDC and OSGEP enzymes.
- Mutations in the KEOPS complex subunits have been linked to Galloway-Mowat syndrome, with YRDC mutations causing severe symptoms and GON7 mutations resulting in milder forms.
- The crystal structure of a GON7 subcomplex reveals that GON7 becomes partially structured when interacting with LAGE3, indicating its role in stabilizing the KEOPS complex.
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects.
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- Steroid-resistant nephrotic syndrome (SRNS) is linked to 15% of chronic kidney disease cases, with about 30% of patients under 25 showing mutations in one of over 40 genes.
- Researchers identified nine recessive mutations in the SGPL1 gene in seven families with SRNS and related symptoms, which lead to reduced SGPL1 protein activity and mislocalization in cells.
- The study revealed that SGPL1 mutations contribute to SRNS and its syndromic features by impairing cellular functions, as shown in yeast and Drosophila models.