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We report on four affected children from two
2022-04-15

We report on four affected children from two unrelated consanguineous GW-786034 with moderate to severe ID associated with epilepsy and variable neuropsychiatric features. Using whole-exome sequencing, we identified homozygous missense variants in SLC45A1 (OMIM: 605763), which codes for a neuronal g
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Importance of glucokinase in glucose homeostasis and a possi
2022-04-15

Importance of glucokinase in glucose homeostasis and a possibility to change its activity using the activators define the scientific interest in the development of new allosteric activators of GK (Liu et al., 2012, Pfefferkorn et al., 2011, Waring et al., 2013, Behera et al., 2015). Activation of gl
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br Introduction Glucokinase GCK hexokinase IV is a monomeric
2022-04-15

Introduction Glucokinase (GCK, hexokinase IV) is a monomeric enzyme that catalyzes the ATP-dependent conversion of glucose to glucose 6-phosphate, the first and rate-limiting step of glycolysis in the liver and pancreas [1,2]. GCK was first discovered in the early 1960's, and shortly thereafter i
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AKR D is very highly
2022-04-15

AKR1D1 is very highly expressed in human liver and based upon the observations outlined above, with respect to other steroid hormone pre-receptor metabolising enzymes, it is entirely plausible that AKR1D1 could represent a critical regulatory step in the control of metabolic phenotype within the liv
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Our data suggest that Slc a is important for amino
2022-04-15

Our data suggest that Slc38a5 is important for amino-acid-induced α cell proliferation and expansion of α cell mass following GCGR inhibition, but not for formation and maintenance of α cell mass. This is supported by the finding that Slc38a5−/− mice have normal α cell mass. This is interesting sinc
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br Financial support This work was supported by Fondation
2022-04-15

Financial support This work was supported by Fondation pour la Recherche Médicale (Equipe labellisée, DEQ20150331724), Inserm, University of Lille, and Agence Nationale pour la Recherche (ANR-10-LBEX-46 and ANR-10-INBS-08; ProFI project, “Infrastructures Nationales en Biologie et Santé”; “Investi
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The current gold standard for diagnosing BAM
2022-04-15

The current gold standard for diagnosing BAM or BAD is the measurement of BA turnover rate with radiolabelled tauroselcholic (75selenium) 5416 (also known as the SeHCAT retention test). SeHCAT test involves the use of a synthetic analogue of naturally occurring conjugated taurocholic acid and measu
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It is considered that activations
2022-04-15

It is considered that activations of MMP-2 and MMP-9 are closely related to progression process of cancer cells, such as invasion and metastasis [22], [23]. In fibrosarcoma cells, GPR40 suppressed not only MMP-2 and MMP-9 activations, but also cell motile and invasive activities, suggesting GPR40 ne
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Immunohistochemistry using anti FFAR antibodies revealed imm
2022-04-15

Immunohistochemistry using anti-FFAR1 antibodies revealed immunoreactivity for FFAR1 in association with the cell membrane of the hepatocytes (Figure 2). However, the anti-FFAR2 antibody was not suitable for immunohistochemistry under the tested conditions (data not shown). Fatty liver is an import
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Studies have revealed that ferroptosis is non apoptotic and
2022-04-15

Studies have revealed that ferroptosis is non-apoptotic and peroxidation-driven form of cell death that requires abundant and accessible cellular Fe2+, and thus, the balance of Fe2+ metabolism is of great significance in regulating the process of ferroptosis (Cao and Dixon, 2016; Xie et al., 2016; Y
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Several small molecules such as erastin and RSL
2022-04-15

Several small molecules, such as erastin and RSL3, are reported to induce ferroptosis in both normal and cancer JNJ-7706621 [21,22]. We confirmed that erastin-induced growth inhibition is an ideal ferroptosis model for cardiomyocytes. The erastin inhibits the growth of H9c2 cells in a Fe-dependent
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br Materials and methods br Results br Discussion The develo
2022-04-15

Materials and methods Results Discussion The development of HCC is a multistep process involving the accumulation of multiple genetic and epigenetic alterations that lead to the activation of oncogenes and inactivation of tumor suppressor genes [20]. Frequent intrahepatic or pulmonary metas
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MST are involved in signalling pathways following
2022-04-15

MST1/2 are involved in signalling pathways following along the canonical and noncanonical Hippo pathway. The canonical pathway is highly conserved between D. melanogaster and mammals and a master regulator of tissue growth. During development and within the canonical pathway, MST1/2 seem to have red
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VDAC interacts with hexokinase and is implicated in
2022-04-15

VDAC interacts with hexokinase and is implicated in NLRP3 activation in response to noxious stimuli including monosodium urate, silica, and alum (Zhou et al., 2011). Hexokinase dissociation may allow VDAC to carry out this role. It will be informative to block or silence VDAC to explore its function
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br Introduction Topological hedgehogs keep generating intere
2022-04-15

Introduction Topological hedgehogs keep generating interest in point-set topology as they are a rich source of counterexamples and applications (for a comprehensive survey on topological hedgehogs we refer to [1]; see also [9]). They may be described as a set of spines identified at a single poin
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