Acute necrotizing encephalopathy and a carnitine palmitoyltransferase 2 variant in an adult
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.11.045
Abstract: A 54-year-old Japanese man had a fever of over 40 °C for 7 days and developed unconsciousness, seizure and respiratory arrest. T2-weighted imaging magnetic resonance imaging revealed high-intensity signals on bilateral thalamus and it gradually extended to… read more here.
Keywords: adult; necrotizing encephalopathy; encephalopathy carnitine; carnitine palmitoyltransferase ... See more keywords
Carnitine palmitoyltransferase 1A is essential for decidualization in mice.
Sign Up to like & getrecommendations! Published in 2021 at "Theriogenology"
DOI: 10.1016/j.theriogenology.2021.10.006
Abstract: Decidualization accompanies with extensive stromal cell proliferation and differentiation, is a crucial step in early pregnancy. Aberrant decidualization is linked to infertility and miscarriage but the mechanisms remain unclear. Carnitine palmitoyltransferase 1A (CPT1A) is an… read more here.
Keywords: pregnancy; decidualization mice; carnitine palmitoyltransferase; cpt1a ... See more keywords
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.07.011
Abstract: BACKGROUND Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because… read more here.
Keywords: using c16; carnitine palmitoyltransferase; cpt deficiency; deficiency ... See more keywords
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.04.008
Abstract: Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6… read more here.
Keywords: carnitine palmitoyltransferase; deficiency; acylcarnitine; case ... See more keywords
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100611
Abstract: In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form… read more here.
Keywords: expanded newborn; management; clinical management; carnitine palmitoyltransferase ... See more keywords
Apigenin Attenuates Acetaminophen-Induced Hepatotoxicity by Activating AMP-Activated Protein Kinase/Carnitine Palmitoyltransferase I Pathway
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2020.549057
Abstract: Overuse of acetaminophen (APAP) is a major cause of drug-induced liver failure at the clinics. Apigenin (API) is a natural flavonoid derived from Matricaria chamomilla. The aim of the present study was to investigate the… read more here.
Keywords: induced hepatotoxicity; activated protein; carnitine palmitoyltransferase; hepatotoxicity ... See more keywords
Carnitine Palmitoyltransferase 1 Regulates Prostate Cancer Growth under Hypoxia.
Sign Up to like & getrecommendations! Published in 2021 at "Cancers"
DOI: 10.3390/cancers13246302
Abstract: Hypoxia and hypoxia-related biomarkers are the major determinants of prostate cancer (PCa) aggressiveness. Therefore, a better understanding of molecular players involved in PCa cell survival under hypoxia could offer novel therapeutic targets. We previously reported… read more here.
Keywords: cpt1a knockdown; carnitine palmitoyltransferase; pca; prostate cancer ... See more keywords
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms18010082
Abstract: CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle… read more here.
Keywords: cpt; muscle; fatty acid; carnitine palmitoyltransferase ... See more keywords
Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20061400
Abstract: Fibroblast growth factor 21 (FGF-21) is known to be a biomarker for mitochondrial disorders. An upregulation of FGF-21 in serum and muscle of carnitine palmitoyltransferase I (CPT I) and carnitine palmitoyltransferase II (CPT II) knock-out… read more here.
Keywords: palmitoyltransferase cpt; fgf serum; carnitine palmitoyltransferase; cpt deficiency ... See more keywords
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis
Sign Up to like & getrecommendations! Published in 2023 at "World Journal of Gastroenterology"
DOI: 10.3748/wjg.v29.i12.1765
Abstract: Nonalcoholic fatty liver disease (NAFLD) or metabolic-associated fatty liver disease has been characterized by the lipid accumulation with injury of hepatocytes and has become one of the most common chronic liver diseases in the world.… read more here.
Keywords: nonalcoholic fatty; fatty liver; carnitine palmitoyltransferase; possible novel ... See more keywords