Mitochondrial dysfunction: pathophysiology and mitochondria-targeted drug delivery approaches

T Khan, R Waseem, Z Zehra, A Aiman, P Bhardwaj… - Pharmaceutics, 2022 - mdpi.com
Mitochondria are implicated in a wide range of functions apart from ATP generation, and,
therefore, constitute one of the most important organelles of cell. Since healthy mitochondria …

Utilization of human samples for assessment of mitochondrial bioenergetics: Gold standards, limitations, and future perspectives

R Acin-Perez, C Benincá, B Shabane, OS Shirihai… - Life, 2021 - mdpi.com
Mitochondrial bioenergetic function is a central component of cellular metabolism in health
and disease. Mitochondrial oxidative phosphorylation is critical for maintaining energetic …

Causes and pathophysiology of acquired sideroblastic anemia

JJ Rodriguez-Sevilla, X Calvo, L Arenillas - Genes, 2022 - mdpi.com
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders
characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring …

Human induced pluripotent stem cells for studying mitochondrial diseases in the heart

A Caudal, L Ren, C Tu, JC Wu - FEBS letters, 2022 - Wiley Online Library
Mitochondrial dysfunction is known to contribute to a range of diseases, and primary
mitochondrial defects strongly impact high‐energy organs such as the heart. Platforms for …

Mitochondrial DNA: Unraveling the “other” genome

B Heuer - Journal of the American Association of Nurse …, 2021 - journals.lww.com
The mitochondrial genome, which contains all of the hereditary information within human
mitochondria, consists of 16,569 base pairs of double-stranded DNA that encode 37 genes …

Metabolomics in the Study of Human Mitochondrial Diseases

R Sebaa, ME Harper, R Al-Tassan, M Al-Owain… - … Applications in Genetic …, 2023 - Springer
Mitochondria are dynamic cellular organelles playing many biological roles that are
fundamentally required for cellular functions. The primary role of mitochondria is ATP …

“Mendelian code” in the genetic structure of common multifactorial diseases

MS Nazarenko, AA Sleptcov, VP Puzyrev - Russian Journal of Genetics, 2022 - Springer
The phenomenon of comorbidity between monogenic and multifactorial diseases suggests
the involvement of a certain common number of genes and biological pathways in the …

Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases: A hospital based study

DM Abdou, LA Selim, RV Coster, J Smet… - South African Journal of …, 2023 - ajol.info
Background. Mitochondrial respiratory chain (RC) disorders are a growing group of
disorders with a large variety of clinical presentations ranging from well-defined clinical …

[PDF][PDF] Understanding Mito

WM Matter - mitocanada.org
Mitochondrial disease is a broad term that covers a wide range of mitochondrial disorders
and syndromes. Mitochondrial disease is divided into two distinct categories–primary …

[引用][C] Natural history of Pearson syndrome

AA Fisch - 2023 - Dissertation, Universität Freiburg …