A5087548994- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Adipose Tissue and Metabolism
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- RNA Research and Splicing
- Myasthenia Gravis and Thymoma
- Muscle metabolism and nutrition
Hacettepe University
2019-2025
ABSTRACT Mitochondria play a fundamental role in energy metabolism, particularly high‐energy‐demand tissues such as skeletal muscle. Understanding the proteomic composition of mitochondria these cells is crucial for elucidating mechanisms underlying muscle physiology and pathology. However, effective isolation from primary human has been challenging due to complex cellular architecture propensity contamination with other organelles. Here, we compared four different methods isolate myoblasts...
Abstract Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive disorder characterized by enlarged mitochondria located mainly at the periphery of muscle fibers and caused mutations in Choline Kinase Beta ( CHKB ) gene. Although pathogenesis this disease not well understood, there accumulating evidence for presence mitochondrial dysfunction. In study, we aimed to investigate whether imbalanced dynamics affects function bioenergetic efficiency skeletal cells CMD....
Abstract Spinal muscular atrophy (SMA) is a devastating childhood disease primarily affecting lower motoneurons in the spinal cord. SMA caused by loss of functional survival motoneuron (SMN) protein, leading to structural and alterations cytoskeleton other cells. Loss SMN results impairments microtubule architecture, but underlying mechanisms are not completely understood. In this study, we mechanistically analyzed effects deficiency on microtubules, demonstrating reduced stability together...
<h3>Objective:</h3> To evaluate the presence, amount and possible function of circulating cell free mtDNA (ccf-mtDNA) in inflammation related neuromuscular diseases. <h3>Background:</h3> Neuromuscular diseases, mostly being among rare genetic include a wide range syndromes diseases which directly or indirectly affect skeletal muscle structure function. Recent scientific research has focused on defining common mechanisms involved pathogenesis identifying novel therapeutic targets....