Our functional and pathogenesis studies, revealed that MeCP2 interacts with the RNA-binding protein YB-1 and that this interaction affects alternative splicing of reporter cassettes regulated by YB-1. Heading. Genome annotation related files including junction database (known … We are treating Mecp2308 mice with Crh receptor-1 antagonist to determine if this will subdue the anxiety and stress phenotypes. We are collaborating with Nathaniel Heintz at Rockefeller University to isolate cell-specific RNAs using the BACarray technology developed in his lab. Math1 is also essential for secretory cells in the gut (Paneth, goblet, and enteroendocrine cells), and the enteroendocrine cells secrete neuropeptides that modulate gut proprioception. This led us to propose that wild-type Ataxin-1 might take on a conformation that resists clearance or interacts strongly with other proteins and that such conformation is favored by the expanded polyglutamine tract. We found that 14-3-3 proteins interact with Ataxin-1 in a S776-dependent manner and that 14-3-3 augments levels of Ataxin-1 when phosphorylated at S776 by Akt kinase. Our laboratory uses genetic, cell biological, and biochemical approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases, the function of Math1 in neurodevelopment, and how MECP2 mutations cause postnatal neurodevelopmental disorders. Zoghbi said she was not expecting so many children, the majority being young girls, to reach out to her to say how they had never thought that a career in science and medicine could be just as glamorous as the lives of celebrities they see on the red carpet and even more rewarding. Lastly, we recently found that the Ataxin-1 paralog (Ataxin-1 like) can suppress neurodegeneration in the SCA1 knock-in mice by displacing Ataxin-1 from its native complex facilitating its sequestration into inclusions. Our efforts have focused on addressing how increasing the number of glutamines in Ataxin 1 causes neuronal degeneration. Media Component. Recently we discovered that Math1 also controls multiple components of the auditory and vestibular pathways, and within the cerebellum it controls the genesis of some deep cerebellar neurons in addition to granule neurons. Get in touch. Zoghbi studierte Biologie … We have begun to characterize patients with the duplication and found that some have Rett-like features, while others have autism spectrum phenotypes. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. This suggested to us that the nuclear inclusions are probably protective by sequestering the glutamine-expanded protein and reducing its native interactions. If requested before 2 p.m. you will receive a response today. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? Have an edit or suggestion for this page. In males, the inactivating mutations cause severe neonatal encephalopathy and death in infancy, whereas milder mutations may cause mental retardation, motor dysfunction, and psychosis. Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي Hudā al-Hibrī az-Zughbī; born 1954), born Huda El-Hibri, is a Lebanese-born American geneticist, and a professor at the Department of Molecular and Human Genetics, Baylor College of Medicine. For a few months during medical school, Huda Zoghbi slept in a windowless closet inside a women’s bathroom at the American University of Beirut. We also generated transgenic mice that overexpress MeCP2 at twice the normal level in the correct spatiotemporal distribution, and found that they develop a progressive postnatal neurodevelopmental disorder. Leben. Located on the X chromosome, MECP2 encodes a protein that binds methylated cytosines, helping to orchestrate gene silencing via DNA methylation. Plasmid pLenti-DsRed_IRES_MAPT:EGFP from Dr. Huda Zoghbi's lab contains the insert DsRed-IRES-MAPT-EGFP and is published in Elife. This proved to be the case. Baylor College of Medicine will be closed on Monday, Jan. 18 in observance of Martin Luther King, Jr. Day. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? To determine the anatomical substrates for the various Rett phenotypes we are generating mice that lack MeCP2 in specific neurons. Rotation Student. Huda Zoghbi 2011 Neuroscience Prize. Fax. To test this hypothesis we used proteins whose genes are mutated in various ataxias to develop a "phenotype-based" protein interaction network (ataxia interactome) in collaboration with Marc Vidal at the Dana-Farber Cancer Institute. If requested before 2 p.m. you will receive a response today. Neither of her parents went to college, but her father, who worked from the age of 17 as an extractor of olive oil, was a self-taught scholar. Although there was considerable interest in MeCP2, the protein only really gained the spotlight in 1999, when Huda Zoghbi’s lab at Baylor College of Medicine in Houston identified it as the protein involved in Rett syndrome, a severe and progressive brain disorder (Amir et al., Nature Genetics 1999). To our surprise we found that several ataxia proteins interact directly or indirectly and that certain RNA-binding proteins and transcription regulators form key hubs in the ataxia network. 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