NIH VideoCast - Genetics and Functional Mechanisms of the SPTBN1 Syndrome

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Genetics and Functional Mechanisms of the SPTBN1 Syndrome

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Air date:	Monday, January 23, 2023, 12:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 148 (55 Live, 93 On-demand)
Category:	Neuroscience
Runtime:	00:59:53
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	NIH Neuroscience Series Seminar Our lab investigates the role played by cytoskeletal proteins in maintaining cellular homeostasis and the mechanistic basis of cytoskeleton-associated neurological, metabolic, and muscular disorders. We seek to understand how the assembly and dynamic coordination of cytoskeletal networks in specialized cell types contribute to the regulation of signal transduction, intracellular trafficking, cell motility, membrane dynamics, and cellular metabolism. Our current projects center on the cytoskeleton-associated families of proteins ankyrins, spectrins, and associated partners. Ankyrins act as micron-scale organizers of functionally related membrane transporters and cell adhesion proteins. Ankyrin-B, an ankyrin family member, is a regulator of intracellular transport in multiple cell types. Ankyrins are coupled to arrays of partnering spectrins, which confer mechanical resiliency to cell membranes. In mammalians, ankyrins and spectrins are widely expressed across multiple tissues, where they serve specialized functions. However, we do not fully understand the molecular mechanisms underlying these functions, their physiological consequences, or how their dysregulation cause disease. We are currently studying the neurobiological and metabolic roles of ankyrins, spectrins, and associated partners. For more information go to https://research.ninds.nih.gov/seminars-events/neuroscience-seminar-series

NLM Title:	Genetics and functional mechanisms of the SPTBN1 syndrome / Damaris Lorenzo.
Author:	Lorenzo, Damaris. National Institutes of Health (U.S.),
Publisher:
Abstract:	(CIT): NIH Neuroscience Series Seminar Our lab investigates the role played by cytoskeletal proteins in maintaining cellular homeostasis and the mechanistic basis of cytoskeleton-associated neurological, metabolic, and muscular disorders. We seek to understand how the assembly and dynamic coordination of cytoskeletal networks in specialized cell types contribute to the regulation of signal transduction, intracellular trafficking, cell motility, membrane dynamics, and cellular metabolism. Our current projects center on the cytoskeleton-associated families of proteins ankyrins, spectrins, and associated partners. Ankyrins act as micron-scale organizers of functionally related membrane transporters and cell adhesion proteins. Ankyrin-B, an ankyrin family member, is a regulator of intracellular transport in multiple cell types. Ankyrins are coupled to arrays of partnering spectrins, which confer mechanical resiliency to cell membranes. In mammalians, ankyrins and spectrins are widely expressed across multiple tissues, where they serve specialized functions. However, we do not fully understand the molecular mechanisms underlying these functions, their physiological consequences, or how their dysregulation cause disease. We are currently studying the neurobiological and metabolic roles of ankyrins, spectrins, and associated partners.
Subjects:	Ankyrins--metabolism Cytoskeleton--genetics Homeostasis--physiology Metabolism, Inborn Errors--etiology Spectrin--metabolism
Publication Types:	Lecture Webcast

NLM Classification:	QU 55.7
NLM ID:	9918573262706676
CIT Live ID:	48640
Permanent link:	https://videocast.nih.gov/watch=48640

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