Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

The molecular pathology of pathogenic mitochondrial tRNA variants

(2021) Uwe Richter et al.   FEBS LETTERS

Role of PGC-1α in the Mitochondrial NAD+ Pool in Metabolic Diseases

(2021) Jin-Ho Koh et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations

(2021) Nashwa J. Cheema et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Regulation and functional role of the electron transport chain supercomplexes

(2021) Sara Cogliati et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Hormetic effect of low doses of rapamycin triggers anti-aging cascades in WRL-68 cells by modulating an mTOR-mitochondria cross-talk

(2021) R. Mahalakshmi et al.   MOLECULAR BIOLOGY REPORTS

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

(2021) Chih-Yao Chung et al.   Nature Communications

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

(2020) Alessandra Maresca et al.   HUMAN MOLECULAR GENETICS

Strategies for fighting mitochondrial diseases

(2020) Carlo Viscomi et al.   JOURNAL OF INTERNAL MEDICINE

mTOR at the nexus of nutrition, growth, ageing and disease

(2020) Grace Y. Liu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy

(2020) Eija Pirinen et al.   Cell Metabolism

Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects

(2020) Elena Perli et al.   FASEB JOURNAL

Emerging role of transcription factor EB in mitochondrial quality control

(2020) Shujun Wang et al.   BIOMEDICINE & PHARMACOTHERAPY

Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effect

(2020) Olesia Ignatenko et al.   Life Science Alliance

Expanding and validating the biomarkers for mitochondrial diseases

(2020) Alessandra Maresca et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Regulation of Mitochondrial Biogenesis as a Way for Active Longevity: Interaction Between the Nrf2 and PGC-1α Signaling Pathways

(2019) Artem P. Gureev et al.   Frontiers in Genetics

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

(2019) Saara Forsström et al.   Cell Metabolism

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years

(2018) Valerio Carelli et al.   Essays in Biochemistry

Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease

(2018) Md Fakruddin et al.   Cell Reports

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

(2018) Uwe Richter et al.   Nature Communications

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

(2018) Gabriele Civiletto et al.   EMBO Molecular Medicine

Mitochondrial diseases: the contribution of organelle stress responses to pathology

(2017) Anu Suomalainen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

(2016) Judith Altmann et al.   JOURNAL OF NEUROLOGY

Rapamycin enhances survival in a Drosophila model of mitochondrial disease

(2016) Adrienne Wang et al.   Oncotarget

Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration

(2016) Xinde Zheng et al.   eLife

mTOR coordinates protein synthesis, mitochondrial activity and proliferation

(2015) Masahiro Morita et al.   CELL CYCLE

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

(2015) Elena Perli et al.   HUMAN MOLECULAR GENETICS

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases

(2015) Masami Hashimoto et al.   MOLECULAR THERAPY

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

(2014) Raffaele Cerutti et al.   Cell Metabolism

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

(2014) Nahid A Khan et al.   EMBO Molecular Medicine

mTORC1 Controls Mitochondrial Activity and Biogenesis through 4E-BP-Dependent Translational Regulation

(2013) Masahiro Morita et al.   Cell Metabolism

Molecular and Genetic Crosstalks between mTOR and ERRα Are Key Determinants of Rapamycin-Induced Nonalcoholic Fatty Liver

(2013) Cédric Chaveroux et al.   Cell Metabolism

Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation

(2013) Ying Dai et al.   HUMAN MOLECULAR GENETICS

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

(2013) Carmine Settembre et al.   NATURE CELL BIOLOGY

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

(2013) M. Mancuso et al.   NEUROLOGY

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers

(2012) Yukifumi Monden et al.   BRAIN & DEVELOPMENT

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

(2012) Mario De la Mata et al.   Neurotherapeutics