Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

Thymidine Phosphorylase Is Increased in COVID-19 Patients in an Acuity-Dependent Manner

(2021) Wei Li et al.   Frontiers in Medicine

Genetics of lipodystrophy syndromes

(2021) Isabelle Jéru   PRESSE MEDICALE

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

(2021) Jeremie Gautheron et al.   eLife

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Position Paper on Diagnosis, Prognosis and Treatment by the MNGIE International Network

(2020) Michio Hirano et al.   JOURNAL OF INHERITED METABOLIC DISEASE

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

(2020) Camille Sollier et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

(2019) Michelle Levene et al.   Journal of Clinical Medicine

Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

(2019) Xavier Donath et al.   BMC Medicine

Diagnostic challenge in PLIN1-associated Familial Partial Lipodystrophy

(2019) Isabelle Jéru et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mitochondrial Genome (mtDNA) Mutations that Generate Reactive Oxygen Species

(2019) Hahn et al.   Antioxidants

Lipodystrophic syndromes: From diagnosis to treatment

(2019) Camille Sollier et al.   ANNALES D ENDOCRINOLOGIE

Congenital forms of diabetes: the beta-cell and beyond

(2018) Lisa R Letourneau et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Thymidine phosphorylase in cancer aggressiveness and chemoresistance

(2018) Tatsuhiko Furukawa et al.   PHARMACOLOGICAL RESEARCH

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

(2018) Emilie Capel et al.   Journal of Clinical Lipidology

Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn’s disease: a rare cause of malnutrition

(2018)   Journal of Gastrointestinal and Liver Diseases

Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities

(2018) Baris Akinci et al.   Current Diabetes Reports

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

(2018) Chiara Fiorillo et al.   DNA AND CELL BIOLOGY

MyoNeuroGastroIntestinal Encephalopathy: natural history and means for early diagnosis

(2018) Giovanni Corazza et al.   GASTROENTEROLOGY

The development of an in vitro cerebral organoid model for investigating the pathomolecular mechanisms associated with the central nervous system involvement in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

(2018) Dario Pacitti et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

(2018) Dario Pacitti et al.   Frontiers in Genetics

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

(2017) Nuno Rocha et al.   eLife

Reference standards for body fat measures using GE dual energy x-ray absorptiometry in Caucasian adults

(2017) Mary T. Imboden et al.   PLoS One

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

(2016) Francesco Demaria et al.   JOURNAL OF ADOLESCENT HEALTH

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

(2016) Rebecca J. Brown et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9

(2016) John G Doench et al.   NATURE BIOTECHNOLOGY

ROS, Cell Senescence, and Novel Molecular Mechanisms in Aging and Age-Related Diseases

(2016) Pierpaola Davalli et al.   Oxidative Medicine and Cellular Longevity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy

(2015) Sarah L. Sawyer et al.   HUMAN MOLECULAR GENETICS

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy

(2014) Beatriz Garcia-Diaz et al.   BRAIN

Lipodystrophy-Linked LMNA p.R482W Mutation Induces Clinical Early Atherosclerosis and In Vitro Endothelial Dysfunction

(2013) Guillaume Bidault et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Accelerated fat cell aging links oxidative stress and insulin resistance in adipocytes

(2013) Finny Monickaraj et al.   JOURNAL OF BIOSCIENCES

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

(2013) BUM CHUN SUH et al.   Molecular Medicine Reports

Thymidine Phosphorylase Regulates the Expression of CXCL10 in Rheumatoid Arthritis Fibroblast-like Synoviocytes

(2013) Yuko Toyoda et al.   Arthritis & Rheumatology

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Mitochondrial Complex III ROS Regulate Adipocyte Differentiation

(2011) Kathryn V. Tormos et al.   Cell Metabolism

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

(2011) Ganka V Douglas et al.   JOURNAL OF HUMAN GENETICS

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

(2011) Massimiliano Filosto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fat tissue, aging, and cellular senescence

(2010) Tamara Tchkonia et al.   AGING CELL

Balancing Mitochondrial Redox Signaling: A Key Point in Metabolic Regulation

(2010) Corinne Leloup et al.   ANTIOXIDANTS & REDOX SIGNALING

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

(2010) Zeren Barış et al.   EUROPEAN JOURNAL OF PEDIATRICS

The essence of senescence

(2010) T. Kuilman et al.   GENES & DEVELOPMENT

Feedback between p21 and reactive oxygen production is necessary for cell senescence

(2010) João F Passos et al.   Molecular Systems Biology

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation

(2009) Patricia B. Mory et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Mitochondrial Dysfunction Contributes to Oncogene-Induced Senescence

(2009) O. Moiseeva et al.   MOLECULAR AND CELLULAR BIOLOGY

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene

(2008) Nancy Monroy et al.   European Journal of Medical Genetics

Free radicals and senescence

(2008) Teng Lu et al.   EXPERIMENTAL CELL RESEARCH

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

(2008) Luis C. López et al.   HUMAN MOLECULAR GENETICS