Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

(2020) Glen Lester Sequiera et al.   Stem Cell Research

Global trends in clinical trials involving pluripotent stem cells: a systematic multi-database analysis

(2020) Julia Deinsberger et al.   npj Regenerative Medicine

Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia

(2019) Jianping Li et al.   Translational Psychiatry

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

(2018) Thomas A. Forbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Drug screening for human genetic diseases using iPSC models

(2018) Matthew S Elitt et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation

(2018) Shishi Li et al.   Stem Cell Reports

Relationship Between the Efficacy of Cardiac Cell Therapy and the Inhibition of Differentiation of Human iPSC-Derived Nonmyocyte Cardiac Cells Into Myofibroblast-Like Cells

(2018) Ling Gao et al.   CIRCULATION RESEARCH

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2017) Sumit Parikh et al.   GENETICS IN MEDICINE

Autologous Induced Stem-Cell–Derived Retinal Cells for Macular Degeneration

(2017) Michiko Mandai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Solid organ transplantation in primary mitochondrial disease: Proceed with caution

(2016) Sumit Parikh et al.   MOLECULAR GENETICS AND METABOLISM

Emerging concepts in the therapy of mitochondrial disease

(2015) Carlo Viscomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial disease in adults: what's old and what's new?

(2015) P. F. Chinnery   EMBO Molecular Medicine

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

(2015) Mingkun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion

(2013) Anne B. C. Cherry et al.   STEM CELLS

Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome

(2012) Graham R. Campbell   ARCHIVES OF NEUROLOGY

Mitochondrial diseases

(2012) Anthony HV Schapira   LANCET

RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation

(2011) Biraj Mahato et al.   MITOCHONDRION

Presentation and Diagnosis of Mitochondrial Disorders in Children

(2008) Mary Kay Koenig   PEDIATRIC NEUROLOGY

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

(2008) K. Gibson et al.   PEDIATRICS