Results 1 to 10 of about 55,635 (283)

DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells. [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 1979
In this report, we demonstrate the feasibility of transforming mouse cells deficient in adenine phosphoribosyltransferase (aprt; AMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.7) to the aprt+ phenotype by means of DNA-mediated gene transfer ...
Wigler, M. H., Pellicer, A., Silverstein, S., Axel, R., Urlaub, G., Chasin, L.   +5 more
exaly   +2 more sources

Proteomic Analysis of Cervicovaginal Fluid for Diagnostic Endometriosis Biomarker Discovery. [PDF]

Proteomics Clin Appl
ABSTRACT Purpose Endometriosis is a prevalent inflammatory condition characterised by the presence of endometrial‐like tissue outside the uterus and is associated with significant challenges, including diagnostic delays and continued reliance on laparoscopy.
Paterson ESJ, Scheck S, Kleffmann T, Gill R, Bedford N, McDowell S, Girling JE, Henry CE.   +7 more
europepmc   +2 more sources

Adenine Phosphoribosyltransferase Deficiency [PDF]

Clinical Journal of the American Society of Nephrology, 2012
Summary Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones.
Guillaume, Bollée, Jérôme, Harambat, Albert, Bensman, Bertrand, Knebelmann, Michel, Daudon, Irène, Ceballos-Picot   +5 more
openaire   +2 more sources

Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression

Hepatology, EarlyView., 2022
Improved mitochondrial activity, due to the lack of methylation‐controlled J protein (MCJ), creates a specific microbiota signature that when transferred through cecal microbiota transplantation delays NASH progression by restoring the gut‐liver axis and enhancing hepatic fatty acid oxidation.
María Juárez‐Fernández, Naroa Goikoetxea‐Usandizaga, David Porras, María Victoria García‐Mediavilla, Miren Bravo, Marina Serrano‐Maciá, Jorge Simón, Teresa C. Delgado, Sofía Lachiondo‐Ortega, Susana Martínez‐Flórez, Óscar Lorenzo, Mercedes Rincón, Marta Varela‐Rey, Leticia Abecia, Héctor Rodríguez, Juan Anguita, Esther Nistal, María Luz Martínez‐Chantar, Sonia Sánchez‐Campos   +18 more
wiley   +1 more source

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

Hypoxanthine-Guanine Phosphoribosyltransferase/adenylate Kinase From Zobellia galactanivorans: A Bifunctional Catalyst for the Synthesis of Nucleoside-5′-Mono-, Di- and Triphosphates

Frontiers in Bioengineering and Biotechnology, 2020
In our search for novel biocatalysts for the synthesis of nucleic acid derivatives, we found a good candidate in a putative dual-domain hypoxanthine-guanine phosphoribosyltransferase (HGPRT)/adenylate kinase (AMPK) from Zobellia galactanivorans (ZgHGPRT ...
Javier Acosta, Jon Del Arco, Maria Luisa Del Pozo, Beliña Herrera-Tapias, Vicente Javier Clemente-Suárez, Vicente Javier Clemente-Suárez, José Berenguer, Aurelio Hidalgo, Jesús Fernández-Lucas, Jesús Fernández-Lucas   +9 more
doaj   +1 more source

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Renal Failure, 2020
Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari, Daffodilone Cahyadi, Lenny Sari, Oryza Satria, Felly Sahli, Thyrza Laudamy Darmadi, Agustina Kadaristiana   +6 more
doaj   +1 more source

Recent Advances in NAMPT Inhibitors: A Novel Immunotherapic Strategy

Frontiers in Pharmacology, 2020
Nicotinamide adenine dinucleotide (NAD) is a cofactor of many enzymatic reactions as well as being a substrate for a number of NAD-consuming enzymes (e.g., PARPS, sirtuins, etc).
Ubaldina Galli, Giorgia Colombo, Cristina Travelli, Gian Cesare Tron, Armando A. Genazzani, Ambra A. Grolla   +5 more
doaj   +1 more source

Niacin restriction with NAMPT-inhibition is synthetic lethal to neuroendocrine carcinoma

Nature Communications, 2023
Nicotinamide phosphoribosyltransferase (NAMPT) plays a major role in NAD biosynthesis in many cancers and is an attractive potential cancer target. However, factors dictating therapeutic efficacy of NAMPT inhibitors (NAMPTi) are unclear.
Miyuki Nomura, Mai Ohuchi, Yoshimi Sakamoto, Kei Kudo, Keisuke Yaku, Tomoyoshi Soga, Yuki Sugiura, Mami Morita, Kayoko Hayashi, Shuko Miyahara, Taku Sato, Yoji Yamashita, Shigemi Ito, Naohiko Kikuchi, Ikuro Sato, Rintaro Saito, Nobuo Yaegashi, Tatsuro Fukuhara, Hidekazu Yamada, Hiroshi Shima, Keiichi I. Nakayama, Atsushi Hirao, Kenta Kawasaki, Yoichi Arai, Shusuke Akamatsu, Sei-ichi Tanuma, Toshiro Sato, Takashi Nakagawa, Nobuhiro Tanuma   +28 more
doaj   +1 more source

Identification of NAPRT Inhibitors with Anti-Cancer Properties by In Silico Drug Discovery

Pharmaceuticals, 2022
Depriving cancer cells of sufficient NAD levels, mainly through interfering with their NAD-producing capacity, has been conceived as a promising anti-cancer strategy. Numerous inhibitors of the NAD-producing enzyme, nicotinamide phosphoribosyltransferase
Moustafa S. Ghanem, Irene Caffa, Alberto Del Rio, Jorge Franco, Marco Daniele Parenti, Fiammetta Monacelli, Michele Cea, Amr Khalifa, Aimable Nahimana, Michel A. Duchosal, Silvia Ravera, Nadia Bertola, Santina Bruzzone, Alessio Nencioni, Francesco Piacente   +14 more
doaj   +1 more source