Genomes and Genes
Hugo J Bellen
Affiliation: Baylor College of Medicine
- Ugur B, Bao H, Stawarski M, Duraine L, Zuo Z, Lin Y, et al. The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission. Cell Rep. 2017;21:3794-3806 pubmed publisher..The data reveal conserved metabolic regulation of synaptic transmission via αKG. Our studies provide a synaptic role for αKG, a metabolite that has been proposed as a treatment for aging and neurodegenerative disorders. ..
- Wangler M, Yamamoto S, Chao H, Posey J, Westerfield M, Postlethwait J, et al. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017;207:9-27 pubmed publisher..We discuss how merging human genetics with model organism research guides experimental studies to solve these medical mysteries, gain new insights into disease pathogenesis, and uncover new therapeutic strategies. ..
- Bellen H, Yamamoto S. Morgan's legacy: fruit flies and the functional annotation of conserved genes. Cell. 2015;163:12-4 pubmed publisher..Flies continue to offer great opportunities, including studies in the field of functional genomics. ..
- Wang S, Bellen H. The retromer complex in development and disease. Development. 2015;142:2392-6 pubmed publisher..Here, and in the accompanying poster, we provide an overview of the molecular and cellular mechanisms of retromer-mediated protein trafficking, highlighting key examples of retromer function in vivo. ..
- Wangler M, Yamamoto S, Bellen H. Fruit flies in biomedical research. Genetics. 2015;199:639-53 pubmed publisher..We would like to promote a better collaboration between Drosophila geneticists/biologists and human geneticists/bioinformaticians/clinicians, as it would benefit both fields and significantly impact the research on human diseases. ..
- Senturk M, Bellen H. Genetic strategies to tackle neurological diseases in fruit flies. Curr Opin Neurobiol. 2018;50:24-32 pubmed publisher..We highlight how systematic and combinatorial approaches based on recently established methods provide us with integrated tool sets that can be applied to the study of neurodevelopmental and neurodegenerative disorders. ..
- Tan K, Haelterman N, Kwartler C, Regalado E, Lee P, Nagarkar Jaiswal S, et al. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 2018;45:226-244.e8 pubmed publisher..In addition, SMCs obtained from patients display aberrant nuclear morphology. Hence, ARIH1 is critical in anchoring myonuclei to the cytoskeleton. ..
- Yoon W, Sandoval H, Nagarkar Jaiswal S, Jaiswal M, Yamamoto S, Haelterman N, et al. Loss of Nardilysin, a Mitochondrial Co-chaperone for ?-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017;93:115-131 pubmed publisher..In summary, this study reveals a novel role for NRD1 as a mitochondrial co-chaperone for OGDH and provides a mechanistic link between mitochondrial metabolic dysfunction, mTORC1 signaling, and impaired autophagy in neurodegeneration. ..
- David Morrison G, Xu Z, Rui Y, Charng W, Jaiswal M, Yamamoto S, et al. WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. Dev Cell. 2016;36:139-51 pubmed publisher..WAC promotes the interaction between TTT and Pontin/Reptin in an energy-dependent manner, thereby promoting mTORC1 activity by facilitating mTORC1 dimerization and mTORC1-Rag interaction. ..
- Charng W, Yamamoto S, Bellen H. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014;27:158-64 pubmed publisher..In this review, we summarize and discuss how studies of Drosophila PNS and NMJ development have provided guidance in experimental approaches for these diseases. ..