Results 41 to 50 of about 596,185 (264)

Mitochondrial disease in children [PDF]

Journal of Internal Medicine, 2020
AbstractMitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. Some children are affected by canonical syndromes, but the majority have nonclassical multisystemic disease presentations involving virtually any organ in the body.
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An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

The emerging role of Nrf2 in mitochondrial function [PDF]

, 2015
The transcription factor NF-E2 p45-related factor 2 (Nrf2, gene name NFE2L2) allows adaptation and survival under conditions of stress by regulating the gene expression of diverse networks of cytoprotective proteins, including antioxidant, anti ...
Dinkova-Kostova, AT, Abramov, Andrey Y., Dinkova-Kostova, Albena T.; id_orcid, Abramov, AY, Dinkova-Kostova, Albena T.   +4 more
core   +1 more source

Mitochondrial Diseases

Journal of Epilepsy Research, 1970
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial diseases, most frequently the activity of the ...
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Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Primary skin fibroblasts as a model of Parkinson's disease [PDF]

, 2012
Parkinson's disease is the second most frequent neurodegenerative disorder. While most cases occur sporadic mutations in a growing number of genes including Parkin (PARK2) and PINK1 (PARK6) have been associated with the disease.
Morales-Gordo, B., Jendrach, M., Heinz Reichmann, Brandt, Ulrich, Reichmann, H., Michael Klinkenberg, Jessica Drost, Morales-Gordo, Blas, Auburger, Georg, Blas Morales-Gordo, Vania Broccoli, Brandt, U., Marina Jendrach, Marcus, K., Klinkenberg, Michael, Auburger, G., Gispert, Suzana, Broccoli, Vania, Suzana Gispert, Marcus, Katrin, Ulrich Brandt, Jendrach, Marina, Wolfram S. Kunz, Klinkenberg, M., Drost, Jessica, Georg Auburger, Kunz, Wolfram S., Gispert, S., Kunz, W.S., Katrin Marcus, Droste, J.A.H., Broccoli, V., Reichmann, Heinz   +32 more
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Mitochondrial disease in flies

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
The Drosophila mutant technical knockout (tko), affecting the mitochondrial protein synthetic apparatus, exhibits respiratory chain deficiency and a phenotype resembling various features of mitochondrial disease in humans (paralytic seizures, deafness, developmental retardation).
Jacobs, Howard T., Fernández-Ayala, Daniel J.M., Manjiry, Shweta, Kemppainen, Esko, Toivonen, Janne M., O'Dell, Kevin M.C.   +5 more
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Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a Whole [PDF]

, 2011
Mitochondrial dysfunction has been implicated in rare and common forms of type 2 diabetes (T2DM). Additionally, rare mitochondrial DNA (mtDNA) mutations have been shown to be causal for T2DM pathogenesis.
Baharak Hooshiar Kashani, Antonella Cormio, TORRONI A., Pala M., MARRA M, Santoro Aurelia, Lancioni, Hovirag, ACHILLI A, Viola Grugni, Lancioni Hovirag, Grugni V., Cormio Antonella, Sirolla, Cristina, GRUGNI V, Anna Olivieri, Franceschi Claudio, Spazzafumo L., Cormio, Antonella, Testa Roberto, SIROLLA C, Torroni, Antonio, Ugo A. Perego, Hooshiar Kashani, Baharak, PEREGO UA, Boemi, Massimo, Grugni Viola, Olivieri Anna, Grugni, Viola, Hooshiar Kashani Baharak, Gadaleta Maria Nicola, Testa I., Bonfigli, Anna Rita, Vincenza Battaglia, PEREGO, UGO ALESSANDRO, Achilli A., Roberto Testa, Achilli A1, GANDINI F, TESTA I, Antonio Ceriello, Pala Maria, Gandini Francesca, TESTA R, Marra M., Spazzafumo, Liana, Testa R., Testa, Roberto, Semino Ornella, Marra, Maurizio, Carossa Valeria, Anna Rita Bonfigli, Cormio A, SPAZZAFUMO L, Maria Pala, Olivieri A., Ivano Testa, Olivieri, Anna, BOEMI M, Marra Maurizio, Perego, Ugo A., SANTORO A, SEMINO O, Achilli Alessandro, HOOSHIAR KASHANI B, Boemi M., Spazzafumo Liana, Battaglia V., Hooshiar Kashani B., Testa, Ivano, Aurelia Santoro, Torroni Antonio, Ceriello, Antonio, Boemi Massimo, Massimo Boemi, Valeria Carossa, Bonfigli A. R., LANCIONI H, Gandini, Francesca, Sirolla Cristina, Battaglia Vincenza, Gadaleta, Maria Nicola, BATTAGLIA V, Sirolla C., Santoro, Aurelia, Bonfigli Anna Rita, Gadaleta M. N., Ceriello A., Carossa, Valeria, CAROSSA V, Pala, Maria, FRANCESCHI C, Semino O., Ceriello Antonio, Ugo A Perego, Antonio Torroni, Maria Nicola Gadaleta, Testa Ivano, Perego U. A., BONFIGLI AR, Ornella Semino, Franceschi, Claudio, Maurizio Marra, Hovirag Lancioni, Battaglia, Vincenza, Achilli, Alessandro, Semino, Ornella, CERIELLO A, GADALETA MN, Francesca Gandini, PALA M, Carossa V., Cormio A., Lancioni H., OLIVIERI A, Perego Ugo A., Alessandro Achilli, Claudio Franceschi, Gandini F., Cristina Sirolla, Liana Spazzafumo   +119 more
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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   +3 more sources