Results 61 to 70 of about 9,815,793 (361)

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder

Communications Biology
Classical metabolomic and new metabolic network methods were used to study the developmental features of autism spectrum disorder (ASD) in newborns (n = 205) and 5-year-old children (n = 53). Eighty percent of the metabolic impact in ASD was caused by 14
Sai Sachin Lingampelly, Jane C. Naviaux, Luke S. Heuer, Jonathan M. Monk, Kefeng Li, Lin Wang, Lori Haapanen, Chelsea A. Kelland, Judy Van de Water, Robert K. Naviaux   +9 more
doaj   +1 more source

The combined effects of physical exercise training and detraining on adiponectin in overweight and obese children

Integrative Medicine Research, 2013
Background: The purpose of this study is to assess the combined exercise programs (12 weeks' physical exercise training, resistance and aerobic) and 6 weeks' detraining on the correlation of metabolic syndrome (MS) markers and plasma adiponectin level in
Jae-Young Jeon, Jin Han, Hyun-Jun Kim, Moon Soo Park, Dae Yun Seo, Yi-Sub Kwak   +5 more
doaj   +1 more source

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Biomolecules, 2020
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these
Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné   +2 more
doaj   +1 more source

Mitochondrial disease and epilepsy [PDF]

Developmental Medicine & Child Neurology, 2012
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures.
openaire   +4 more sources

Mitochondrial diseases and epilepsy [PDF]

Epilepsia, 2012
SummaryThe mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus.
Bernt A. Engelsen, Laurence A. Bindoff
openaire   +2 more sources

The power of microRNA regulation—insights into immunity and metabolism

FEBS Letters, EarlyView.
MicroRNAs are emerging as crucial regulators at the intersection of metabolism and immunity. This review examines how miRNAs coordinate glucose and lipid metabolism while simultaneously modulating T‐cell development and immune responses. Moreover, it highlights how cutting‐edge artificial intelligence applications can identify miRNA biomarkers ...
Stefania Oliveto, Nicola Manfrini, Stefano Biffo   +2 more
wiley   +1 more source

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Journal of Medical Genetics, 2019
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term ‘possible’ mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected.
S. Parikh, A. Karaa, A. Goldstein, E. Bertini, P. Chinnery, J. Christodoulou, B. Cohen, R. Davis, Marni J. Falk, C. Fratter, R. Horvath, M. Koenig, Michaelangelo Mancuso, Shana E. McCormack, E. McCormick, R. Mcfarland, V. Nesbitt, M. Schiff, H. Steele, S. Stockler, C. Sue, M. Tarnopolsky, D. Thorburn, J. Vockley, S. Rahman   +24 more
semanticscholar   +1 more source

STAT3 expression is reduced in cardiac pericytes in HFpEF and its loss reduces cellular adhesion and induces pericyte senescence

FEBS Letters, EarlyView.
Heart failure with preserved ejection fraction (HFpEF) accounts for half of the heart failure cases. It is characterised by microvascular dysfunction, associated with reduced pericyte coverage and diminished STAT3 expression in pericytes. Loss of STAT3 impairs pericyte adhesion, promotes senescence, and activates a pro‐fibrotic gene program.
Leah Rebecca Vanicek, Ariane Fischer, Mariano Ruz Jurado, Anita Tamiato, Tara Procida‐Kowalski, Jochen Wilhelm, Dennis Hecker, Maximilian Merten, Felicitas Escher, Badder Kattih, Valentina Puntmann, David John, Marcel H. Schulz, Eike Nagel, Stefanie Dimmeler, Guillermo Luxán   +15 more
wiley   +1 more source

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Frontiers in Genetics, 2020
Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4).
Sonia Emperador, Sonia Emperador, Sonia Emperador, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Juan D. Ortigoza-Escobar, Marti Iriondo, Marti Iriondo, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Angels García-Cazorla, Angels García-Cazorla, Mercedes Gil-Campos, Mercedes Gil-Campos, Rafael Artuch, Rafael Artuch, Julio Montoya, Julio Montoya, Julio Montoya, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy   +33 more
doaj   +1 more source