Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Serum Macrophage Inhibitory Cytokine-1 (MIC-1/GDF15): A Potential Screening Tool for the Prevention of Colon Cancer?

(2012) D. A. Brown et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-κB Signaling

(2012) Sonia Paco et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Diagnostic Accuracy of Maternal Serum Macrophage Inhibitory Cytokine-1 and Pregnancy-Associated Plasma Protein-A at 6–10 Weeks of Gestation to Predict Miscarriage

(2012) Stephen Tong et al.   OBSTETRICS AND GYNECOLOGY

Mitochondrial DNA Maintenance Is Regulated in Human Hepatoma Cells by Glycogen Synthase Kinase 3β and p53 in Response to Tumor Necrosis Factor α

(2012) Nathalie Vadrot et al.   PLoS One

Relation of Growth-Differentiation Factor 15 to Left Ventricular Remodeling in ST-Segment Elevation Myocardial Infarction

(2011) Alberto Dominguez-Rodriguez et al.   AMERICAN JOURNAL OF CARDIOLOGY

Global analysis of gene expression in NGF-deprived sympathetic neurons identifies molecular pathways associated with cell death

(2011) Mark Kristiansen et al.   BMC GENOMICS

Nuclear Localization ofde NovoThymidylate Biosynthesis Pathway Is Required to Prevent Uracil Accumulation in DNA

(2011) Amanda J. MacFarlane et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Metabolic regulation by p53

(2011) Oliver D. K. Maddocks et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

(2011) Beatriz Puisac et al.   MOLECULAR BIOLOGY REPORTS

Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria

(2011) D. D. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neonatal muscular manifestations in mitochondrial disorders

(2011) Már Tulinius et al.   Seminars in Fetal & Neonatal Medicine

Infantile mitochondrial encephalopathy

(2011) Graziella Uziel et al.   Seminars in Fetal & Neonatal Medicine

Mitochondrial disorders in the perinatal period

(2011) Vineta Fellman et al.   Seminars in Fetal & Neonatal Medicine

GDF-15 Contributes to Proliferation and Immune Escape of Malignant Gliomas

(2010) P. Roth et al.   CLINICAL CANCER RESEARCH

Congenital Muscular Dystrophies: Toward Molecular Therapeutic Interventions

(2010) James Collins et al.   Current Neurology and Neuroscience Reports

Arrestin domain-containing protein 3 recruits the NEDD4 E3 ligase to mediate ubiquitination of the β2-adrenergic receptor

(2010) Joseph F Nabhan et al.   EMBO REPORTS

Increased serum hepcidin and alterations in blood iron parameters associated with asymptomatic P. falciparum and P. vivax malaria

(2010) Q. de Mast et al.   HAEMATOLOGICA

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration

(2010) Stefano Bartesaghi et al.   HUMAN MOLECULAR GENETICS

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

A history of mitochondrial diseases

(2010) Salvatore DiMauro   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS

Loss of p53 causes mitochondrial DNA depletion and altered mitochondrial reactive oxygen species homeostasis

(2009) Maria A. Lebedeva et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms

(2009) Joan Villarroya et al.   EXPERIMENTAL CELL RESEARCH

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

(2009) A. Spinazzola et al.   JOURNAL OF INTERNAL MEDICINE

BioVenn – a web application for the comparison and visualization of biological lists using area-proportional Venn diagrams

(2008) Tim Hulsen et al.   BMC GENOMICS

Posttranscriptional Regulation of p53 and its Targets by RNABinding Proteins

(2008) Jin Zhang et al.   CURRENT MOLECULAR MEDICINE

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

(2008) X. Zhou et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

(2008) Hasan O. Akman et al.   HUMAN MOLECULAR GENETICS

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

(2008) Katharina Engel et al.   HUMAN MUTATION

Distinct mitochondrial retrograde signals control the G1-S cell cycle checkpoint

(2008) Edward Owusu-Ansah et al.   NATURE GENETICS

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

(2008) Luciano Merlini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA