Results 1 to 10 of about 13,871 (203)

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship. [PDF]

Ann Neurol
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Sorrentino U, O'Neill AG, Kollman JM, Jinnah HA, Zech M.   +4 more
europepmc   +2 more sources

Case report: Whole exome sequencing identifies a novel variant in the <i>HPRT1</i> gene in a male with developmental delay. [PDF]

Front Genet
Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Zheng H, Chen G, Wang T, Cheng W, Yuan J, Liu F, Xu Y.   +6 more
europepmc   +2 more sources

Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency. [PDF]

Br J Clin Pharmacol
Thiopurines are a class of immunosuppressant and antineoplastic agents. They are widely used in the treatment of inflammatory bowel disease, haematological malignancies and autoimmune diseases, but can cause significant toxicity. Inherited gene mutations are now recognized as independent risk factors for severe adverse drug reactions to thiopurines ...
Wu AS, Mozessohn L, Kim RB, Zipursky JS.
europepmc   +2 more sources

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]

Diagnostics (Basel)
Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Fang HH, Lee CL, Chen HJ, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +2 more sources

Response of Primary Human Adipocytes to Fatty Acid Treatment. [PDF]

J Cell Mol Med
ABSTRACT Obesity, nowadays a common disease, due to its complexity can cause many other disorders. In this study, a model of preadipocytes isolated from human adipose tissue was used. Cells after differentiation were additionally fattened with fatty acids such as palmitic, oleic and linoleic.
Pietraszek-Gremplewicz K, Olszańska J, Domagalski M, Simiczyjew A, Kot M, Skoniecka A, Tymińska A, Pikuła M, Nowak D.   +8 more
europepmc   +2 more sources

The Effect of Two Weeks of High-intensity Interval Training on Salvage nucleotide pathway [PDF]

فیزیولوژی ورزش و فعالیت بدنی, 2022
Purpose: The effects of exercise adaptation on improving the purine nucleotides components are inevitable, and physical activity improves the purine nucleotide salvage pathway.
Abbas Ghanbari Niaki, Rouhollah Haghshenas Gatabi   +1 more
doaj   +1 more source

Resensitizing β-Lactams by Reprogramming Purine Metabolism in Small Colony Variant for Osteomyelitis Treatment. [PDF]

Adv Sci (Weinh)
Small colony variant (SCV) is strongly linked to antibiotic resistance and the persistence of osteomyelitis. However, the intrinsic phenotypic instability of SCV has hindered a thorough investigation of its pathogenic mechanisms.
Shi T, Wu Q, Ruan Z, Luo Z, Wang W, Guo Z, Ma Y, Wang X, Chu G, Lin H, Ge M, Chen Y.   +11 more
europepmc   +2 more sources

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer

AIMS Neuroscience, 2021
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective.
Khue Vu Nguyen
doaj   +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

Effects of Immunization with Recombinant Schistosoma mansoni Enzymes AK and HGPRT: Murine Infection Control

Pathogens, 2023
Schistosomiasis is one of the most important human helminthiases worldwide. Praziquantel is the current treatment, and no vaccine is available until the present.
Ana Carolina Maragno Fattori, Elisandra de A. Montija, Bruna D. de L. Fragelli, Ricardo de O. Correia, Cynthia Aparecida de Castro, Larissa Romanello, Camila T. Nogueira, Silmara M. Allegretti, Edson G. Soares, Humberto D. Pereira, Fernanda de F. Anibal   +10 more
doaj   +1 more source