Results 81 to 90 of about 100,000 (276)

Secondary Carnitine Deficiency in Dialysis Patients: Shall We Supplement It? [PDF]

European Medical Journal Nephrology, 2016
Carnitine, essential for fatty acid β-oxidation, is obtained from diet and through de novo biosynthesis. The organic cation/carnitine transporter 2 (OCTN2) facilitates carnitine cellular transport and kidney resorption.
Ronald J.A. Wanders, Tim Ulinski, Stephanie E. Reuter, Asha Moudgil   +3 more
doaj  

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency [PDF]

Genetics in Medicine, 1998
Primary carnitine deficiency is an autosomal recessive disorder caused by defective carnitine transport and manifests as nonketotic hypoglycemia or skeletal or heart myopathy.To define the mechanisms producing partially reduced plasma carnitine levels in the parents of affected patients, we examined carnitine transport in vivo and in the fibroblasts of
F, Scaglia, Y, Wang, R H, Singh, P P, Dembure, M, Pasquali, P M, Fernhoff, N, Longo   +6 more
openaire   +2 more sources

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

PPARα contributes to protection against metabolic and inflammatory derangements associated with acute kidney injury in experimental sepsis [PDF]

, 2019
Sepsis‐associated acute kidney injury (AKI) is a significant problem in critically ill children and adults resulting in increased morbidity and mortality. Fundamental mechanisms contributing to sepsis‐associated AKI are poorly understood.
Bennion, Brock G, Djukovic, Danijel, Fei, Lin, Iwaki, Takuma, Liles, W. Conrad, Lynn, Jared C, Otinga, Cynthia, Raftery, Daniel, Standage, Stephen W, Stenson, Erin K, Wong, Hector R   +10 more
core   +2 more sources

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Molecular Genetics and Metabolism Reports, 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier   +9 more
doaj   +1 more source

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

Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels

Molecular Autism, 2023
Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD).
Edgars Liepinsh, Baiba Svalbe, Gundega Stelfa, Solveiga Grinberga, Liga Zvejniece, Helgi B. Schiöth, Maija Dambrova   +6 more
doaj   +1 more source

Transcriptomic-metabolomic reprogramming in EGFR-mutant NSCLC early adaptive drug escape linking TGFβ2-bioenergetics-mitochondrial priming. [PDF]

, 2016
The impact of EGFR-mutant NSCLC precision therapy is limited by acquired resistance despite initial excellent response. Classic studies of EGFR-mutant clinical resistance to precision therapy were based on tumor rebiopsies late during clinical tumor ...
Bagai, Rakesh, Bivona, Trever G, Danielpour, David, Feng, Yan, Leahy, Patrick, Lindner, Daniel, Ma, Patrick C, Rosell, Rafael, Shi, Ivy, Thiagarajan, Praveena S, Veigl, Martina, Wu, Xiaoliang, Yin, Lihong, Zhang, Wei, Zhang, Zhenfeng   +14 more
core   +1 more source

Metabolic lipid muscle disorders: biomarkers and treatment

Therapeutic Advances in Neurological Disorders, 2019
Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed.
Corrado Angelini, Elena Pennisi, Sara Missaglia, Daniela Tavian   +3 more
doaj   +1 more source

Caveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2): effect of protein kinase C on this interaction in rat astrocytes. [PDF]

PLoS ONE, 2013
OCTN2--the Organic Cation Transporter Novel family member 2 (SLC22A5) is known to be a xenobiotic/drug transporter. It transports as well carnitine--a compound necessary for oxidation of fatty acids and mutations of its gene cause primary carnitine ...
Magdalena Czeredys, Łukasz Samluk, Katarzyna Michalec, Karolina Tułodziecka, Krzysztof Skowronek, Katarzyna A Nałęcz   +5 more
doaj   +1 more source