Results 31 to 40 of about 556,889 (346)

Lipid metabolism in pancreatic cancer: emerging roles and potential targets

Cancer Communications, Volume 42, Issue 12, Page 1234-1256, December 2022., 2022
Abstract Pancreatic cancer is one of the most serious health issues in developed and developing countries, with a 5‐year overall survival rate currently <9%. Patients typically present with advanced disease due to vague symptoms or lack of screening for early cancer detection.
Xinpeng Yin, Ruiyuan Xu, Jianlu Song, Rexiati Ruze, Yuan Chen, Chengcheng Wang, Qiang Xu   +6 more
wiley   +1 more source

N‐acetyltransferase 10 promotes colon cancer progression by inhibiting ferroptosis through N4‐acetylation and stabilization of ferroptosis suppressor protein 1 (FSP1) mRNA

Cancer Communications, Volume 42, Issue 12, Page 1347-1366, December 2022., 2022
Abstract Background N‐acetyltransferase 10 (NAT10) is the only enzyme known to mediate the N4‐acetylcytidine (ac4C) modification of mRNA and is crucial for mRNA stability and translation efficiency. However, its role in cancer development and prognosis has not yet been explored.
Xiao Zheng, Qi Wang, You Zhou, Dachuan Zhang, Yiting Geng, Wenwei Hu, Changping Wu, Yufang Shi, Jingting Jiang   +8 more
wiley   +1 more source

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)

Animals, 2023
Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato   +8 more
doaj   +1 more source

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023
MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason, Charles C. T. Hindmarch, Kimberly J. Dunham‐Snary   +2 more
wiley   +1 more source

Neurological Characteristics of Pediatric Glycogen Storage Disease

Frontiers in Endocrinology, 2021
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti, Julio Henrique Muzetti, Julio Henrique Muzetti, Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Hyperammonemia associated with glycogen storage disease type I

The Turkish Journal of Pediatrics, 1982
M Tunçer, H Yalçin, I Ozalp, M Cağlar
doaj   +2 more sources

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Diagnostics, 2021
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter   +8 more
doaj   +1 more source

A Büchi-Elgot-Trakhtenbrot theorem for automata with MSO graph storage [PDF]

Discrete Mathematics & Theoretical Computer Science, vol. 22 no. 4, Automata, Logic and Semantics (August 27, 2020) dmtcs:5424, 2019
We introduce MSO graph storage types, and call a storage type MSO-expressible if it is isomorphic to some MSO graph storage type. An MSO graph storage type has MSO-definable sets of graphs as storage configurations and as storage transformations. We consider sequential automata with MSO graph storage and associate with each such automaton a string ...
arxiv   +1 more source

Liver transplantation for glycogen storage disease types I, III, and IV [PDF]

, 1999
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation.
Arnaout, W, Barnard, J, Bynon, JS, Chen, YT, Dhawan, A, Emond, J, Haagsma, EB, Hug, G, Lachaux, A, Matern, D, Smit, GPA, Starzl, TE   +11 more
core   +2 more sources

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source