Ammonium regulates mTOR signalling

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance … Read more

Shire Rare Disease Summit

In the field of rare diseases one of the key points of progress is to ensure that rare disease patients benefit from advances in medical sciences. To promote this, the global biotechnology company Shire hosted a Rare Disease Summit yesterday in London, which focused on the policy environment for patient access to orphan drugs and … Read more

3rd IRDiRC Conference – Trends in Patient Advocacy

As mentioned in last week’s blog, the 3rd International Rare Disease Research Consortium (IRDiRC) conference was held on the 8-9th February in Paris bringing together international experts in the rare disease field to discuss progress and to set new goals. One of the sessions of the conference focused on global trends in patient advocacy in the rare … Read more

3rd International Rare Disease Research Consortium Conference

The 3rd International Rare Disease Research Consortium (IRDiRC) conference was held last week in Paris. It brought together international experts in the fields of public health, funding agencies, academic research, patient advocacy and health industry to discuss the progress in the rare disease field and to set new goals for the next decade. The conference … Read more

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins … Read more

RCC: Updates on Guidelines for Adjuvant Therapy and new drug combination

The European Association of Urology (EAU) Renal Cell Carcinoma (RCC) guidelines panel has recently updated its recommendation on adjuvant therapy with sunitinib in non-metastatic RCC after surgical tumour removal (Bex et al., 2016). These clinical guidelines provide urologists with evidence-based information and recommendations for the management of RCC and the panel includes urological surgeons, oncologists, … Read more

Nutrient-dependent FNIP degradation regulates FLCN localization and promotes renal cancer progression

Birt-Hogg-Dubé (BHD) syndrome is a rare disorder caused by mutations in FLCN and associated with increased risk of kidney cancer. It has been shown that FLCN-interacting protein 1 and 2 (FNIP1 and FNIP2) double knockout mice, like the FLCN knockout mice, develop renal carcinoma (Hasumi et al., 2015). However, the molecular mechanisms linking FNIP and … Read more

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