Publications by authors named "Annie Waldum"
The discovery of oncogene addiction in cancer has led to the development of over a dozen FDA-approved biomarker-driven therapies in lung adenocarcinoma. Somatic mutations of the "Ras-like in all tissues" (RIT1) gene are non-canonical driver events in lung cancer, occurring in ~2% of lung adenocarcinomas in a mutually exclusive fashion with and mutations. Patients with -mutant lung cancer lack targeted therapy treatment options, and a lack of pre-clinical models has hindered the development of therapeutic strategies for -mutant lung cancer.
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- Central metabolism influences the development and severity of neurological diseases like Alzheimer's and Parkinson's, while Familial Dysautonomia (FD) is caused by a single gene mutation.
- Research using H NMR spectroscopy has revealed significant metabolic changes in FD patients, impacting energy production, mitochondrial function, and gut microbial metabolism.
- The findings suggest a strong link between metabolism, neurodegeneration, and gut health in FD, highlighting potential for metabolic interventions to slow disease progression.
Background And Aim: Copper is an essential trace metal serving as a cofactor in innate immunity, metabolism, and iron transport. We hypothesize that copper deficiency may influence survival in patients with cirrhosis through these pathways.
Methods: We performed a retrospective cohort study involving 183 consecutive patients with cirrhosis or portal hypertension.
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degeneration of both the peripheral and central nervous systems. FD is monogenic, with >99.4% of patients sharing an identical point mutation in the elongator acetyltransferase complex subunit 1 (ELP1) gene, providing a relatively simple genetic background in which to identify modifiable factors that influence pathology.
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