Results 51 to 60 of about 1,179,077 (360)

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

CoQ10 deficiency diseases in adults [PDF]

Mitochondrion, 2007
Deficiency of Coenzyme Q10 (CoQ10) in muscle has been associated with a spectrum of diseases including infantile-onset multi-systemic diseases, encephalomyopathies with recurrent myobinuria, cerebellar ataxia, and pure myopathy. CoQ10 deficiency predominantly affects children, but patients have presented with adult-onset cerebellar ataxia or myopathy ...
Catarina M, Quinzii, Michio, Hirano, Salvatore, DiMauro   +2 more
openaire   +2 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Differential diagnosis of iron deficiency [PDF]

, 2010
Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and
Figueiredo, Maria Stella, Vicari, Perla
core   +1 more source

Rad27/FEN1 prevents accumulation of Okazaki fragments and ribosomal DNA copy number changes

FEBS Letters, EarlyView.
The budding yeast Rad27 is a structure‐specific endonuclease. Here, the authors reveal that Rad27 is crucial for maintaining the stability of the ribosomal RNA gene (rDNA) region. Rad27 deficiency leads to the accumulation of Okazaki fragments and changes in rDNA copy number.
Tsugumi Yamaji, Yuko Katayama, Nanase Arata, Mariko Sasaki   +3 more
wiley   +1 more source

Magnesium (Mg2+) Deficiency, Not Well-Recognized Non-Infectious Pandemic: Origin and Consequence of Chronic Inflammatory and Oxidative Stress-Associated Diseases [PDF]

, 2022
Yalith Lyzet Arancibia‐Hernández, Estefani Yaquelin Hernández‐Cruz, José Pedraza‐Chaverrí   +2 more
openalex   +1 more source

Mitochondrial fatty acid oxidation is stimulated by red light irradiation

FEBS Letters, EarlyView.
Light at different wavelengths has distinct effects on keratinocyte viability and metabolism. UVA light abrogates metabolic fluxes. Blue and green light have no effect on metabolic fluxes, while red light enhanced oxidative phosphorylation by promoting fatty acid oxidation. Keratinocytes are the primary constituents of sunlight‐exposed epidermis.
Manuel Alejandro Herrera, Camille C. Caldeira da Silva, Maiza Von Dentz, Mauricio S. Baptista, Alicia J. Kowaltowski   +4 more
wiley   +1 more source

Visual and brainstem auditory evoked potentials in HCV-infected patients before and after interferon-free therapy — A pilot study

International Journal of Infectious Diseases, 2019
Introduction: The aim of this study was to investigate brain bioelectrical activity disturbances in HCV-positive patients before and 24 weeks after interferon-free therapy (DAA), using visual (VEP) and brainstem (BAEP) evoked potentials and advanced ...
Marta Waliszewska-Prosół, Joanna Bladowska, Maria Ejma, Katarzyna Fleischer-Stępniewska, Weronika Rymer, Marek Sąsiadek, Tomasz Pawłowski, Krzysztof Małyszczak, Małgorzata Inglot, Agnieszka Żelwetro, Przemysław Podgórski, Brygida Knysz   +11 more
doaj   +1 more source

Efficacy of cyanobacterium Anabaena sp. as a feed supplement on productive performance and immune status in cultured Nile tilapia

Aquaculture Reports, 2020
The purpose of this work was to research the impact of N2- fixing cyanobacterium Anabaena sp. supplementation in the diet or as a culture in the fishpond of Nile tilapia.
Sabreen E. Fadl, Abdelgawad Y. Elsadany, Abeer M. El-Shenawy, Osama A. Sakr, Ghada A. El Gammal, Doaa M. Gad, Mostafa A. Abo Norag, Ismail Eissa   +7 more
doaj   +1 more source