Pharmacological Doses of Thiamine Benefit Patients with the Charcot-Marie-Tooth Neuropathy by Changing Thiamine Diphosphate Levels and Affecting Regulation of Thiamine-Dependent Enzymes.

[1]  R. Crosbie,et al.  Benfotiamine improves dystrophic pathology and exercise capacity in mdx mice by reducing inflammation and fibrosis , 2024, Human molecular genetics.

[2]  Giulio Quarta,et al.  Riboswitch Distribution in the Human Gut Microbiome Reveals Common Metabolite Pathways , 2024, The journal of physical chemistry. B.

[3]  V. Bunik,et al.  Posttranslational Acylations of the Rat Brain Transketolase Discriminate the Enzyme Responses to Inhibitors of ThDP-Dependent Enzymes or Thiamine Transport , 2024, International journal of molecular sciences.

[4]  M. Hosseini,et al.  Ameliorative effects of thiamin on learning behavior and memory dysfunction in a rat model of hypothyroidism: implication of oxidative stress and acetylcholinesterase , 2023, Metabolic Brain Disease.

[5]  G. Lenaers,et al.  Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome , 2023, Metabolic Brain Disease.

[6]  V. Bunik.  The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes , 2023, Biology.

[7]  S. Shah,et al.  Neuroprotective effects of vitamin B1 on memory impairment and suppression of pro-inflammatory cytokines in traumatic brain injury , 2023, Metabolic Brain Disease.

[8]  H. Bayır,et al.  Oxoglutarate dehydrogenase complex controls glutamate-mediated neuronal death , 2023, Redox biology.

[9]  A. Koulman,et al.  Protocol and application of basal erythrocyte transketolase activity to improve assessment of thiamine status , 2023, Annals of the New York Academy of Sciences.

[10]  X. Tong,et al.  Sirtuin5 protects colorectal cancer from DNA damage by keeping nucleotide availability , 2022, Nature Communications.

[11]  H. Takashima,et al.  Clinical genetics of Charcot–Marie–Tooth disease , 2022, Journal of Human Genetics.

[12]  V. Fanos,et al.  Thiamine as a Possible Neuroprotective Strategy in Neonatal Hypoxic-Ischemic Encephalopathy , 2021, Antioxidants.

[13]  M. Suyama,et al.  Sex differences in metabolic pathways are regulated by Pfkfb3 and Pdk4 expression in rodent muscle , 2021, Communications Biology.

[14]  I. Nogués,et al.  Physiological and Biochemical Markers of the Sex-Specific Sensitivity to Epileptogenic Factors, Delayed Consequences of Seizures and Their Response to Vitamins B1 and B6 in a Rat Model , 2021, Pharmaceuticals.

[15]  S. Baltrusch.  The Role of Neurotropic B Vitamins in Nerve Regeneration , 2021, BioMed research international.

[16]  L. Bettendorff,et al.  Neuroprotective Effects of Thiamine and Precursors with Higher Bioavailability: Focus on Benfotiamine and Dibenzoylthiamine , 2021, International journal of molecular sciences.

[17]  V. Bunik,et al.  Severe Spinal Cord Injury in Rats Induces Chronic Changes in the Spinal Cord and Cerebral Cortex Metabolism, Adjusted by Thiamine That Improves Locomotor Performance , 2021, Frontiers in Molecular Neuroscience.

[18]  S. Tenzer,et al.  GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton , 2021, Communications Biology.

[19]  A. Koulman,et al.  Erythrocyte transketolase activity coefficient (ETKAC) assay protocol for the assessment of thiamine status , 2020, Annals of the New York Academy of Sciences.

[20]  U. Manor,et al.  Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease , 2020, Frontiers in Cell and Developmental Biology.

[21]  P. Newton,et al.  Comparison of Thiamin Diphosphate High-Performance Liquid Chromatography and Erythrocyte Transketolase Assays for Evaluating Thiamin Status in Malaria Patients without Beriberi , 2020, The American journal of tropical medicine and hygiene.

[22]  L. Bettendorff,et al.  Dibenzoylthiamine Has Powerful Antioxidant and Anti-Inflammatory Properties in Cultured Cells and in Mouse Models of Stress and Neurodegeneration , 2020, Biomedicines.

[23]  V. Bunik,et al.  Activation of Mitochondrial 2-Oxoglutarate Dehydrogenase by Cocarboxylase in Human Lung Adenocarcinoma Cells A549 Is p53/p21-Dependent and Impairs Cellular Redox State, Mimicking the Cisplatin Action , 2020, International journal of molecular sciences.

[24]  J. Millán,et al.  Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration , 2020, Antioxidants.

[25]  V. Bunik,et al.  The multifaceted role of vitamin B6 in cancer: Drosophila as a model system to investigate DNA damage , 2020, Open Biology.

[26]  D. Bonneau,et al.  Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K , 2020, Experimental Neurology.

[27]  A. Feuchtinger,et al.  Derangements of amino acids in cachectic skeletal muscle are caused by mitochondrial dysfunction , 2019, Journal of cachexia, sarcopenia and muscle.

[28]  M. O. Nava-Mesa,et al.  B Vitamins in the nervous system: Current knowledge of the biochemical modes of action and synergies of thiamine, pyridoxine, and cobalamin , 2019, CNS neuroscience & therapeutics.

[29]  R. Chrast,et al.  In vivo real-time dynamics of ATP and ROS production in axonal mitochondria show decoupling in mouse models of peripheral neuropathies , 2019, Acta Neuropathologica Communications.

[30]  C. Won,et al.  Muscular grip strength normative values for a Korean population from the Korea National Health and Nutrition Examination Survey, 2014–2015 , 2018, PloS one.

[31]  M. Beal,et al.  Benfotiamine treatment activates the Nrf2/ARE pathway and is neuroprotective in a transgenic mouse model of tauopathy , 2018, Human molecular genetics.

[32]  V. Bunik,et al.  Thiamine preserves mitochondrial function in a rat model of traumatic brain injury, preventing inactivation of the 2-oxoglutarate dehydrogenase complex. , 2018, Biochimica et biophysica acta. Bioenergetics.

[33]  P. Costelli,et al.  Modulating Metabolism to Improve Cancer-Induced Muscle Wasting , 2018, Oxidative medicine and cellular longevity.

[34]  V. Bunik,et al.  Delayed Influence of Spinal Cord Injury on the Amino Acids of NO• Metabolism in Rat Cerebral Cortex Is Attenuated by Thiamine , 2018, Front. Med..

[35]  Sarah A. Moore,et al.  A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects , 2017, Disability and rehabilitation.

[36]  K. Lesch,et al.  Thiamine and benfotiamine improve cognition and ameliorate GSK-3β-associated stress-induced behaviours in mice , 2017, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

[37]  C. Zhong,et al.  Enhanced Activities of Blood Thiamine Diphosphatase and Monophosphatase in Alzheimer's Disease , 2017, PloS one.

[38]  L. Bettendorff,et al.  Cellular thiamine status is coupled to function of mitochondrial 2-oxoglutarate dehydrogenase , 2016, Neurochemistry International.

[39]  C. Serrati,et al.  Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia , 2016, Journal of Neurology.

[40]  G. Gibson,et al.  Vitamin B1 (thiamine) and dementia , 2016, Annals of the New York Academy of Sciences.

[41]  P. Nunes,et al.  Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review , 2016, Neuroepidemiology.

[42]  E. Grossi,et al.  Long-Term Treatment with High-Dose Thiamine in Parkinson Disease: An Open-Label Pilot Study. , 2015, Journal of alternative and complementary medicine.

[43]  Yuguo Yu,et al.  Measurement of Blood Thiamine Metabolites for Alzheimer's Disease Diagnosis , 2015, EBioMedicine.

[44]  J. Fuscoe,et al.  Sexual Dimorphism in the Expression of Mitochondria-Related Genes in Rat Heart at Different Ages , 2015, PloS one.

[45]  V. Bunik.  Benefits of Thiamin (Vitamin B1) Administration in Neurodegenerative Diseases may be Due to Both the Coenzyme and Non-coenzyme Roles of Thiamin , 2014 .

[46]  G. Boss,et al.  Akt phosphorylation and regulation of transketolase is a nodal point for amino acid control of purine synthesis. , 2014, Molecular cell.

[47]  V. Bunik,et al.  Thiamin diphosphate‐dependent enzymes: from enzymology to metabolic regulation, drug design and disease models , 2013, The FEBS journal.

[48]  J. Polke,et al.  Clinical implications of genetic advances in Charcot–Marie–Tooth disease , 2013, Nature Reviews Neurology.

[49]  S. Michalak,et al.  Erythrocyte transketolase activity in patients with diabetic and alcoholic neuropathies. , 2013, Folia neuropathologica.

[50]  Antonio Costantini,et al.  High dose thiamine improves fatigue in multiple sclerosis , 2013, BMJ Case Reports.

[51]  G. Gibson,et al.  Abnormal thiamine-dependent processes in Alzheimer's Disease. Lessons from diabetes , 2013, Molecular and Cellular Neuroscience.

[52]  S. D’agostino,et al.  High-dose thiamine improves the symptoms of Friedreich's ataxia , 2013, BMJ Case Reports.

[53]  M. Shy,et al.  Inherited peripheral neuropathies. , 2013, Neurologic clinics.

[54]  M. Malara,et al.  ASSESSMENT OF INTAKE AND NUTRITIONAL STATUS OF VITAMIN B1, B2, AND B6 IN MEN AND WOMEN WITH DIFFERENT PHYSICAL ACTIVITY LEVELS , 2013, Biology of sport.

[55]  Jiasong Guo,et al.  The PMP22 Gene and Its Related Diseases , 2012, Molecular Neurobiology.

[56]  J. Marsden,et al.  Exploring the experience of fatigue in people with Charcot–Marie–Tooth disease , 2012, Neuromuscular Disorders.

[57]  G. Braathen.  Genetic epidemiology of Charcot–Marie–Tooth disease , 2012, Acta neurologica Scandinavica. Supplementum.

[58]  C. Rivolta,et al.  Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes , 2012, Molecular Syndromology.

[59]  F. Nosten,et al.  Thiamine Diphosphate in Whole Blood, Thiamine and Thiamine Monophosphate in Breast-Milk in a Refugee Population , 2012, PloS one.

[60]  V. Bunik,et al.  Chronic alcoholism in rats induces a compensatory response, preserving brain thiamine diphosphate, but the brain 2‐oxo acid dehydrogenases are inactivated despite unchanged coenzyme levels , 2011, Journal of neurochemistry.

[61]  P. Newton,et al.  Erythrocyte Transketolase Activity, Markers of Cardiac Dysfunction and the Diagnosis of Infantile Beriberi , 2011, PLoS neglected tropical diseases.

[62]  Francesco Felici,et al.  Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals , 2011, Neuromuscular Disorders.

[63]  A. Sun,et al.  Thiamine deficiency increases β-secretase activity and accumulation of β-amyloid peptides , 2011, Neurobiology of Aging.

[64]  F. Chantraine,et al.  Thiamine Status in Humans and Content of Phosphorylated Thiamine Derivatives in Biopsies and Cultured Cells , 2010, PloS one.

[65]  Tian-Le Xu,et al.  Powerful beneficial effects of benfotiamine on cognitive impairment and beta-amyloid deposition in amyloid precursor protein/presenilin-1 transgenic mice. , 2010, Brain : a journal of neurology.

[66]  E. L. Frank,et al.  Rapid HPLC measurement of thiamine and its phosphate esters in whole blood. , 2008, Clinical chemistry.

[67]  D. Radice,et al.  Reliability of clinical outcome measures in Charcot-Marie-Tooth disease , 2008, Neuromuscular Disorders.

[68]  Katsuhito Yasuno,et al.  Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity , 2007, Journal of Human Genetics.

[69]  Michelle A James,et al.  Use of the Medical Research Council muscle strength grading system in the upper extremity. , 2007, The Journal of hand surgery.

[70]  M. Beal,et al.  Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases , 2006, Nature.

[71]  C. Häger-Ross,et al.  Hand function in Charcot Marie Tooth: test retest reliability of some measurements , 2006, Clinical rehabilitation.

[72]  J. Mataix,et al.  Assessment of thiamin (vitamin B1) and riboflavin (vitamin B2) status in an adult Mediterranean population , 2003, British Journal of Nutrition.

[73]  Geert Aufdemkampe,et al.  Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II). , 2002, Archives of physical medicine and rehabilitation.

[74]  K. Nakashima,et al.  An Epidemiological Genetic Study of Charcot-Marie-Tooth Disease in Western Japan , 2002, Neuroepidemiology.

[75]  D. Escolar,et al.  Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children , 2001, Muscle & nerve.

[76]  B. Birren,et al.  The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. , 2001, Genome research.

[77]  K. Kunze,et al.  Disability and quality of life in Charcot-Marie-Tooth disease type 1 , 2001, Journal of neurology, neurosurgery, and psychiatry.

[78]  J. Howard.  Assessment of Vitamin B1 Status , 2000 .

[79]  D. Talwar,et al.  Vitamin B(1) status assessed by direct measurement of thiamin pyrophosphate in erythrocytes or whole blood by HPLC: comparison with erythrocyte transketolase activation assay. , 2000, Clinical chemistry.

[80]  S. Wessely,et al.  Vitamin B status in patients with chronic fatigue syndrome , 1999, Journal of the Royal Society of Medicine.

[81]  Bernhard Neundörfer,et al.  Normative values of vibratory perception in 530 children, juveniles and adults aged 3–79 years , 1998, Journal of the Neurological Sciences.

[82]  D. Figarella-Branger,et al.  Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. , 1998, Human molecular genetics.

[83]  M. Reilly.  Genetically determined neuropathies , 1997, Journal of Neurology.

[84]  P. Lettéron,et al.  Comparison of erythrocyte transketolase activity with thiamine and thiamine phosphate ester levels in chronic alcoholic patients. , 1995, Clinica chimica acta; international journal of clinical chemistry.

[85]  P. Finglas,et al.  Thiamin intake, erythrocyte transketolase (EC 2.2.1.1) activity and total erythrocyte thiamin in adolescents , 1994, British Journal of Nutrition.

[86]  M. Botez,et al.  Thiamine and folate treatment of chronic epileptic patients: a controlled study with the Wechsler IQ scale , 1993, Epilepsy Research.

[87]  M. Seear,et al.  Thiamine, riboflavin, and pyridoxine deficiencies in a population of critically ill children. , 1992, The Journal of pediatrics.

[88]  A. Clague,et al.  In thiamine deficiency, activation of erythrocyte transketolase by thiamine in vivo exceeds activation by cofactor in vitro. , 1991, Clinica chimica acta; international journal of clinical chemistry.

[89]  C. Ong,et al.  Determination of thiamine and its phosphate esters by gradient-elution high-performance liquid chromatography. , 1991, Journal of chromatography.

[90]  M Baines,et al.  The Evaluation of Erythrocyte Thiamin Diphosphate as an Indicator of Thiamin Status in Man, and its Comparison with Erythrocyte Transketolase Activity Measurements , 1988, Annals of clinical biochemistry.

[91]  A. Thomson,et al.  The activation of red blood cell transketolase in groups of patients especially at risk from thiamin deficiency , 1987, Psychological Medicine.

[92]  J. E. Buttery,et al.  Kinetic transketolase assay: use of whole-blood hemolysate as the sample. , 1985, Clinical chemistry.

[93]  P. Nixon,et al.  Variants of transketolase from human erythrocytes. , 1983, Clinica chimica acta; international journal of clinical chemistry.

[94]  L. Boots,et al.  Vitamin fluctuations in the blood of female baboons in relation to normal menstrual cycles, treatments with Lo-Ovral or Depo-Provera and a selected vitamin supplement. , 1983, The American journal of clinical nutrition.

[95]  C. Prudhomme,et al.  The isolation and preliminary characterization of apotransketolase from human erythrocytes. , 1982, Biochemical and biophysical research communications.

[96]  C. Prudhomme,et al.  The determination of thiamin pyrophosphate in blood and other tissues, and its correlation with erythrocyte transketolase activity. , 1978, The Journal of nutrition.

[97]  D. Penington,et al.  Thiamine status in alcoholism. , 1977, Australian and New Zealand journal of medicine.

[98]  H. Skre,et al.  Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease , 1974, Clinical genetics.

[99]  O. Wiss,et al.  Chemical modification of tryptophan at the binding site of thiamine-pyrophosphate in transketolase from Baker's yeast. , 1972, Biochemical and biophysical research communications.

[100]  J. Hoenicka,et al.  Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease , 2022, Journal of Translational Genetics and Genomics.

[101]  L. Bettendorff,et al.  Up-regulation of 2-oxoglutarate dehydrogenase as a stress response. , 2013, The international journal of biochemistry & cell biology.

[102]  H. Ihara,et al.  Assay values for thiamine or thiamine phosphate esters in whole blood do not depend on the anticoagulant used , 2005, Journal of clinical laboratory analysis.

[103]  C. Gubler,et al.  Isolation of transketolase from human erythrocytes. , 1988, Preparative biochemistry.

[104]  M. Ali,,et al.  A comparison of transketolase assay and transketolase and lactate dehydrogenase activity levels in whole blood and red cell hemolysates and in leukocytes. , 1987, Comparative biochemistry and physiology. B, Comparative biochemistry.

[105]  G. Hübner,et al.  [On the separation of phosphoric acid esters of thiamine and its analogues by gradient elution]. , 1965, Hoppe-Seyler's Zeitschrift fur physiologische Chemie.