Expanding and validating the biomarkers for mitochondrial diseases

Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders

(2019) Polina G. Tsygankova et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders

(2019) Stefano Gambardella et al.   Frontiers in Immunology

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

Emerging Role of Mitochondrial DNA as a Major Driver of Inflammation and Disease Progression

(2019) Fei Zhong et al.   TRENDS IN IMMUNOLOGY

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

(2018) John P Grady et al.   EMBO Molecular Medicine

Emerging therapies for mitochondrial diseases

(2018) Michio Hirano et al.   Essays in Biochemistry

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

(2018) Valerio Carelli et al.   Essays in Biochemistry

Biomarkers for mitochondrial energy metabolism diseases

(2018) Sara Boenzi et al.   Essays in Biochemistry

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

(2018) Yutaka Ohsawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human Aging and Longevity Are Characterized by High Levels of Mitokines

(2018) Maria Conte et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

(2018) Jana Buzkova et al.   EMBO Molecular Medicine

MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases

(2018) Anthony C Smith et al.   NUCLEIC ACIDS RESEARCH

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

(2017) Valerio Carelli et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Mitochondrial diseases: the contribution of organelle stress responses to pathology

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

Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases

(2016) Emese Lovadi et al.   MUSCLE & NERVE

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

(2016) Jenni M. Lehtonen et al.   NEUROLOGY

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

(2015) Angela Pyle et al.   ANNALS OF NEUROLOGY

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

(2015) Shuichi Yatsuga et al.   ANNALS OF NEUROLOGY

Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease

(2013) Petar Podlesniy et al.   ANNALS OF NEUROLOGY

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Epigenetics, epidemiology and mitochondrial DNA diseases

(2012) Patrick F Chinnery et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Role of creatine as biomarker of mitochondrial diseases

(2012) Sonia Pajares et al.   MOLECULAR GENETICS AND METABOLISM

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Steroid Responsive A3243G Mutation MELAS

(2012) Brian P. Walcott et al.   NEUROLOGIST

The creatine kinase system and pleiotropic effects of creatine

(2011) Theo Wallimann et al.   AMINO ACIDS

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Biomarkers for mitochondrial respiratory chain disorders

(2010) Anu Suomalainen   JOURNAL OF INHERITED METABOLIC DISEASE

Circulating mitochondrial DAMPs cause inflammatory responses to injury

(2010) Qin Zhang et al.   NATURE

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

(2010) O. Shaham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS