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Non-canonical functions of a mutant TSC2 protein in mitotic division.

التفاصيل البيبلوغرافية
العنوان: Non-canonical functions of a mutant TSC2 protein in mitotic division.
المؤلفون: Mary-Bronwen L Chalkley, Rachel B Mersfelder, Maria Sundberg, Laura C Armstrong, Mustafa Sahin, Rebecca A Ihrie, Kevin C Ess
المصدر: PLoS ONE, Vol 18, Iss 10, p e0292086 (2023)
بيانات النشر: Public Library of Science (PLoS), 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. TSC is caused by mutations in the TSC1 or TSC2 genes, which encode the hamartin/tuberin proteins respectively. These proteins function as a heterodimer that negatively regulates the mechanistic Target of Rapamycin Complex 1 (mTORC1). TSC research has focused on the effects of mTORC1, a critical signaling hub, on regulation of diverse cell processes including metabolism, cell growth, translation, and neurogenesis. However, non-canonical functions of TSC2 are not well studied, and the potential disease-relevant biological mechanisms of mutations affecting these functions are not well understood. We observed aberrant multipolar mitotic division, a novel phenotype, in TSC2 mutant iPSCs. The multipolar phenotype is not meaningfully affected by treatment with the inhibitor rapamycin. We further observed dominant negative activity of the mutant form of TSC2 in producing the multipolar division phenotype. These data expand the knowledge of TSC2 function and pathophysiology which will be highly relevant to future treatments for patients with TSC.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1932-6203
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292086&type=printableTest; https://doaj.org/toc/1932-6203Test
DOI: 10.1371/journal.pone.0292086&type=printable
DOI: 10.1371/journal.pone.0292086
الوصول الحر: https://doaj.org/article/d45f6b6c25b340218f4d2f8d48a9b3eaTest
رقم الانضمام: edsdoj.45f6b6c25b340218f4d2f8d48a9b3ea
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0292086&type=printable