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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency
(American Society for Biochemistry and Molecular Biology, 1996-11)
A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ...
Novel regulation of the synthesis of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor subunit gluA1 by carnitine palmitoyltransferase 1C (CPT1C) in the hippocampus
(American Society for Biochemistry and Molecular Biology, 2015-10-16)
The regulation of AMPA-type receptor (AMPAR) abundance in the postsynaptic membrane is an important mechanism involved in learning and memory formation. Recent data suggest that one of the constituents ...
CPT1C in the ventromedial nucleus of the hypothalamus is necessary for brown fat thermogenesis activation in obesity
(Elsevier, 2019-01)
Objective: Carnitine palmitoyltransferase 1C (CPT1C) is implicated in central regulation of energy homeostasis. Our aim was to investigate whether CPT1C in the ventromedial nucleus of the hypothalamus ...
A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
(Elsevier, 1997)
A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...
Uridine 5'-triphosphate promotes in vitro Schwannoma cell migration through matrix metalloproteinase-2 activation
(Public Library of Science, 2014-06-06)
In response to peripheral nerve injury, Schwann cells adopt a migratory phenotype and modify the extracellular matrix to make it permissive for cell migration and axonal re-growth. Uridine 5′-triphosphate ...
Astrocytes and oligodendrocytes in grey and white matter regions of the brain metabolize fatty acids
(Springer Nature, 2017-09-07)
The grey and white matter regions of the mammalian brain consist of both neurons and neuroglial cells. Among the neuroglia, the two macroglia oligodendrocytes and astrocytes are the most abundant cell ...
Increased infammation, oxidative stress and mitochondrial respiration in brown adipose tissue from obese mice
(Springer Nature, 2017-11-22)
Obesity is associated with severe metabolic diseases such as type 2 diabetes, insulin resistance, cardiovascular disease and some forms of cancer. The pathophysiology of obesity-induced metabolic diseases ...
Defective in mitotic arrest 1 (Dma1) ubiquitin ligase controls G1 cyclin degradation
(American Society for Biochemistry and Molecular Biology, 2013-02)
Progression through the G1 phase of the cell cycle is controlled by diverse cyclin-dependent kinases (CDKs) that might be associated to numerous cyclin isoforms. Given such complexity, regulation of ...
Hypothalamic AMPK-ER Stress-JNK1 axis mediates the central actions of thyroid hormones on energy balance
(Elsevier, 2017-07)
Thyroid hormones (THs) act in the brain to modulate energy balance. We show that central triiodothyronine (T3) regulates de novo lipogenesis in liver and lipid oxidation in brown adipose tissue (BAT) ...