Results 31 to 40 of about 475,319 (124)

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study. [PDF]

JIMD Rep
ABSTRACT Sodium phenylbutyrate (NaPBA) is used for nitrogen scavenging in urea cycle disorders (UCDs), but its volume, palatability, and sodium load affect adherence and ammonia control. Glycerol phenylbutyrate (GPB) offers an alternative option with demonstrated improvements in metabolic control and palatability.
Wada Y, Furujo M, Kashimada K, Hamazaki T, Nyuzuki H, Ichimoto K, Kakiuchi T, Matsumoto S, Watanabe Y, Ono C, Shimizu T, Furukawa H, Nakamura K.   +12 more
europepmc   +2 more sources

Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. [PDF]

, 2019
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker ...
Damian Hertig, Diez-Fernandez, Carmen, Diez-Fernandez, C., Nuoffer, J.M., Loup, Marc, Henry, Hugues, Hertig, Damian, Braissant, O., Henry, H., Marc Loup, Olivier Braissant, Diserens, G., Loup, M., Braissant, Olivier; https://orcid.org/, Häberle, Johannes, Carmen Diez‐Fernandez, Diserens, Gaëlle, Vermathen, Peter, Johannes Häberle, Braissant, Olivier, Peter Vermathen, Hugues Henry, Jean‐Marc Nuoffer, Hertig, D., Vermathen, P., Nuoffer, Jean-Marc, Häberle, J., Gaelle Diserens, Diez-Fernandez C, Diserens G, Häberle J, Vermathen P, Hertig D, Loup M, Braissant O, Nuoffer JM, Henry H   +36 more
core   +3 more sources

Amino Acid and Lipid Metabolism in Cancer: Mechanisms and Therapeutic Opportunities. [PDF]

MedComm (2020)
Amino Acid and lipid metabolism in cancer: (A) Regulation of Amino acid transportation and metabolism in cancer. (B) The core organization of lipid metabolic reprogramming in cancer and their functional consequences. ABSTRACT Metabolic reprogramming is a defining feature of cancer and a major contributor to immune escape.
Wang Z, Fu X, Bai J, Liu Y, Huang K.
europepmc   +2 more sources

Cerebral H-1 MR spectroscopy showing elevation of brain guanidino acetate in argininosuccinate lyase deficiency

, 2006
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guanidinoacetate signals, indicating that the phenomenon of increased levels of this compound in brain tissue is not limited to creatine deficiencies.
van Spronsen, FJ, Reijngoud, DJ; id_orcid, Soorani-Lunsing, RJ, Oudkerk, M, Oudkerk, M; id_orcid, Sijens, PE, Reijngoud, DJ   +6 more
core   +1 more source

Requirement of argininosuccinate lyase for systemic nitric oxide production [PDF]

, 2011
Nitric oxide (NO) is crucial in diverse physiological and pathological processes. We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
Nagamani, Sandesh CS., Garg, Harsha K., Terry K Bertin, Bertin, Terry K., Ayelet Erez, William E O'Brien, William E Mitch, O’Brien, William E., Mian, Asad, Harrison, David G., Summar, Marshall, Marshall Summar, Harsha K Garg, Premkumar, Muralidhar H., Tang, Yaoping, Yuqing Chen, Juan C Marini, Brendan Lee, Muralidhar H Premkumar, Philippe M Campeau, Li Li, Zeng, Heng, Bryan, Nathan S., Li, Li, Mitch, William E., Yaoping Tang, Nathan S Bryan, Judy L Aschner, Chen, Yuqing, Erez, Ayelet, Shchelochkov, Oleg A., Sandesh C S Nagamani, Marini, Juan C., Campeau, Philippe M. Campeau, Reddy, Anilkumar K., Oleg A Shchelochkov, Anilkumar K Reddy, David G Harrison, Jennifer O Black, Black, Jennifer O., Lee, Brendan, Aschner, Judy L., Asad Mian, Heng Zeng   +43 more
core   +1 more source

ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus

Cell Reports, 2019
Summary: Patients with germline mutations in the urea-cycle enzyme argininosuccinate lyase (ASL) are at risk for developing neurobehavioral and cognitive deficits. We find that ASL is prominently expressed in the nucleus locus coeruleus (LC), the central
Shaul Lerner, Elmira Anderzhanova, Sima Verbitsky, Raya Eilam, Yael Kuperman, Michael Tsoory, Yuri Kuznetsov, Alexander Brandis, Tevie Mehlman, Ram Mazkereth, Robert McCarter, Menahem Segal, Sandesh C.S. Nagamani, Alon Chen, Ayelet Erez, Fabienne Dietrich Alber, Talin Babikian, Heidi Bender, Christopher Boys, David Breiger, Corinna Buerger, Peter Burgard, Mina Nguyen-Driver, Benjamin Goodlett, Elizabeth Kerr, Casey Krueger, Eva Mamak, Jacqueline H. Sanz, David Schwartz, Susan Caudle, Arianna Stefanos, Rachel Tangen, Magdalena Walter, Susan Waisbren, Greta Wilkening   +34 more
doaj   +1 more source

Fumarate and Its Esters: Physiology, Pathology, Molecular Mechanisms, Diseases, and Therapy [PDF]

MedComm (2020)
Fumarate is an endogenous immunometabolite that regulates metabolism, redox homeostasis, and inflammation. Although fumaric acid esters (FAEs) share several molecular targets with fumarate, their distinct physicochemical properties confer unique biological activities and therapeutic applications.
Zhu P, You M, Zeng Y, Zhang J, Chen S, Rong R, Xia X.   +6 more
europepmc   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Regulating Lipid Metabolism in Cancer: The Therapeutic Potential of Traditional Chinese Medicine

Phytotherapy Research, EarlyView.
By regulating the reprogramming of lipid metabolism in tumor cells, TCM provides a novel strategy for antitumor therapy with reduced toxicity and enhanced efficacy. ABSTRACT Lipid metabolic reprogramming is a key feature of tumor cells to adapt to the microenvironment and plays an important role in tumor growth, invasion, and metastasis.
Yufeng Gao, Huiming Huang, Xuejiao Wei, Xiaoxue Wang, Wanying Xie, Xinyu Qiu, Fei Wang, Zhuguo Wang, Ruoxin Zhang, Yilin Cai, Changhai Qu, Zhongdong Hu   +11 more
wiley   +1 more source

A new assay for argininosuccinate in urine samples by high performance liquid chromatography

, 1996
A rapid, sensitive and simple procedure has been developed for determination of argininosuccinate (ASA). The assay is based upon the enzymatic cleavage of ASA in the presence of excess of argininosuccinate lyase (ASAL), HPLC separation and UV-detection ...
GIRELLI, Anna Maria, A. M. Girelli, CARUNCHIO, Vincenzo Tito, V. Carunchio, H. COSTANZI   +4 more
core   +1 more source