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Developing Cellular Models for Human Myopathies
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Dissertation
Developing Cellular Models for Human Myopathies
2022
Overview
Recent advancements in genetics and technology have led to a greater understanding of the roles of different skeletal muscle proteins in a disease context. Most skeletal muscle proteins’ functions have been uncovered; however, some proteins’ precise roles in the pathophysiology of myopathies remain elusive. Many members of the Kelch family proteins have been investigated for their importance in skeletal muscle maintenance and disease contexts. Mutations in genes encoding KLHL40 result in abnormal muscle function and loss of KLHL30 in vertebrate muscle affects mitochondrial function. In particular, mutations in KLHL40 result in a severe form of nemaline myopathy. This work is focused on investigating skeletal muscle specific-Kelch proteins, KLHL30 and KLHL40, by creating and characterizing cellular disease models in hopes of validating findings from animal models. Future studies will be aimed at creating therapeutics for KLHL30 and KLHL40 deficient neuromuscular diseases.
Publisher
ProQuest Dissertations & Theses
Subject
ISBN
9798371977410
