Results 111 to 120 of about 51,297 (232)

Ornithine transcarbamylase deficiency [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources

\u3ci\u3eN\u3c/i\u3e\u3csup\u3e5\u3c/sup\u3e-Phosphonoacetyl-L-ornithine (PALO): A convenient synthesis and investigation of influence on regulation of amino acid biosynthetic genes in \u3ci\u3eSaccharomyces cerevisiae\u3c/i\u3e [PDF]

, 2011
A scalable four-step synthesis of the ornithine transcarbamylase inhibitor N5-phosphonoacetyl-L-ornithine (PALO) is achieved through boroxazolidinone protection of ornithine.
Patefield, Krista D., Steadman, Rachel, Atkin, Audrey L., Bunker, Jeffrey J., Dussault, Patrick, Johnson, Brad   +5 more
core  

In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function

Frontiers in Pediatrics
BackgroundOrnithine transcarbamylase deficiency (OTCD), a rare hereditary disease caused by gene mutation of ornithine transcarbamylase (OTC), is the most prevalent type among urea cycle disorders. OTCD typically leads to mitochondrial enzyme dysfunction,
Qingyang Hu, Qingyang Hu, Haiming Chen, Tianyi Liu, Xue Dong, Xue Dong, Xuejiao Hu, Xuejiao Hu, Wenxin Yan, Wenxin Yan, Zhong Li   +10 more
doaj   +1 more source

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration

Case Reports in Neurological Medicine, 2015
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported.
Jordi Gascon-Bayarri, Jaume Campdelacreu, Jordi Estela, Ramon Reñé   +3 more
doaj   +1 more source

Partial purification and properties of ornithine transcarbamylase from bean leaves (Phaseolus vulgaris L.)

, 1989
Transcarbamilase de ornitina (E.C. 2.1.3.3) extraída de folhas de feijoeiro (Phaseolus vulgaris L. cv. carioca) com 31 dias de maturidade foi parcialmente purificada com sulfato de amônio em pH 7,2 e 7,8. A enzima apresentou as seguintes propriedades: pH
Gutierrez, L.E., Crocomo, O.J.
core   +1 more source

The Primary Structure of the Imported Mitochondrial Protein, Ornithine Transcarbamylase from Rat Liver: mRNA Levels During Ontogeny

, 1985
Ornithine transcarbamylase, one of the enzymes of the urea cycle in ureotelic organisms, is synthesized in the cytoplasm of hepatocytes as a precursor larger than the mature form found in the mitochondrial matrix.
P Hudson (13296588), Julian Mercer (13076475), N Hoogenraad (14574758), SA Wake (14574755), P Mcintyre (14574749), L Graf (14574752)   +5 more
core  

Proteo-metabolomics and patient tumor slice experiments point to amino acid centrality for rewired mitochondria in fibrolamellar carcinoma

Cell Reports Medicine
Summary: Fibrolamellar carcinoma (FLC) is a rare, lethal, early-onset liver cancer with a critical need for new therapeutics. The primary driver in FLC is the fusion oncoprotein, DNAJ-PKAc, which remains challenging to target therapeutically.
Donald Long, Jr., Marina Chan, Mingqi Han, Zeal Kamdar, Rosanna K. Ma, Pei-Yin Tsai, Adam B. Francisco, Joeva Barrow, David B. Shackelford, Mark Yarchoan, Matthew J. McBride, Lukas M. Orre, Nathaniel M. Vacanti, Taranjit S. Gujral, Praveen Sethupathy   +14 more
doaj   +1 more source

Ornithine Transcarbamylase Deficiency

Donovan K, Vaqar S, Guzman N.
europepmc   +2 more sources

Amino Acid and Enzyme Assay in Ornithine Transcarbamylase Deficiency

, 1992
Ornithine transcarbamylase(OTC) deficiency is the most comon genetic enzyme deficiency in the cycle enzymopathy and is inherited as a sex-linked dominant mode. All of the urea cycle enzymopathies may results in the accumulation of ammonia in serum.
문형남, 심정연, 홍창의, 홍수종, 김기수   +4 more
core   +1 more source

Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy

Annals of Internal Medicine: Clinical Cases
Typical male patients with ornithine transcarbamylase deficiency present in their early years with lethargy, seizure, and coma from hyperammonemia. An adult-onset phenotype, with sudden severe hyperammonemia emerging in otherwise-healthy men, has been ...
Bun Sheng, Ka Fai Yim, Tiffany Yan Lok Lam, Candace Yim Chan, Hencher Han Chih Lee   +4 more
doaj   +1 more source