Results 11 to 20 of about 409 (115)

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L <i>GATM</i> variant and study of organoids towards treatment. [PDF]

JIMD Rep
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Portales-Castillo I, Singal R, Ambrose A, Song JH, Son M, Goo YA, Zhou W, Traum AZ, Coler-Reilly A, Humphreys BD, Civitelli R, Jüppner H, Lundquist AL, Seres P, Allegretti AS, Mercimek-Andrews S.   +15 more
europepmc   +2 more sources

A creatine efflux transporter in oligodendrocytes. [PDF]

FEBS J
Creatine deficiency leads to severe neurodevelopmental disorders. In the brain, creatine is synthesized by oligodendrocytes to supply neighboring neurons. While SLC6A8 mediates neuronal uptake, the creatine release mechanism was unclear. Our results establish SLC22A15 as a key creatine efflux transporter.
Flögel S, Strater M, Fischer D, Gründemann D.   +3 more
europepmc   +2 more sources

The Concise Guide to PHARMACOLOGY 2023/24: Enzymes

British Journal of Pharmacology, Volume 180, Issue S2, Page S289-S373, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and about 6000 interactions with about 3900 ligands.
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jurg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +28 more
wiley   +1 more source

Cardiomyocytes from female compared to male mice have larger ryanodine receptor clusters and higher calcium spark frequency

The Journal of Physiology, Volume 601, Issue 18, Page 4033-4052, 15 September 2023., 2023
Abstract Figure Legend Despite subtle sex differences in cardiomyocyte structure and calcium fluxes, the differences are balanced, leading to similar calcium transients in cardiomyocytes from male and female mice. Abstract Sex differences in cardiac physiology are receiving increased attention as it has become clear that men and women have different ...
Martin Laasmaa, Jelena Branovets, Jekaterina Stolova, Xin Shen, Triinu Rätsepso, Mihkel Jaan Balodis, Cärolin Grahv, Eliise Hendrikson, William Edward Louch, Rikke Birkedal, Marko Vendelin   +10 more
wiley   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected? [PDF]

Acta Ophthalmol
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Buijs MJN, Balfoort BM, Brands MM, Ten Asbroek ALMA, Boon CJF, Diederen RMH, Timmer C, Wagenmakers MAEM, Waterham HR, Wanders RJA, Houtkooper RH, van Karnebeek CD, Bergen AA.   +12 more
europepmc   +2 more sources

Creatine: A valuable supplement in aquafeeds?

Reviews in Aquaculture, Volume 15, Issue 1, Page 292-304, January 2023., 2023
Abstract Creatine is an amino acid derivate commonly found in vertebrate muscle tissue. Creatine facilitates the recycling of adenosine triphosphate and thus contributes to the energy supply of the muscles as well as the brain. Creatine is used as a supplement for several reasons and its effects in humans, particularly in sports medicine, have been ...
Sven Wuertz, Stefan Reiser
wiley   +1 more source

Nitric oxide metabolites: associations with cardiovascular biomarkers and clinical parameters in patients with HFpEF

ESC Heart Failure, Volume 9, Issue 6, Page 3961-3972, December 2022., 2022
Abstract Aims Heart failure with preserved ejection fraction (HFpEF) is one of the most rapidly growing cardiovascular health burden worldwide, but there is still a lack of understanding about the HFpEF pathophysiology. The nitric oxide (NO) signalling pathway has been identified as a potential key element.
Karsten Piatek, Anna Feuerstein, Veronika Zach, Cristina Rozados da Conceicao, Amelie Beblo, Evgeny Belyavskiy, Elisabeth Pieske‐Kraigher, Alexander Krannich, Edzard Schwedhelm, Sarah Hinz, Burkert Pieske, Frank Edelmann   +11 more
wiley   +1 more source

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

Journal of Inherited Metabolic Disease, Volume 45, Issue 5, Page 926-936, September 2022., 2022
Abstract External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA schemes and educational activities.
Déborah Mathis, Joanne Croft, Petr Chrastina, Brian Fowler, Christine Vianey‐Saban, George J. G. Ruijter   +5 more
wiley   +1 more source

Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 278-291, March 2022., 2022
Abstract Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, and as a compound with anabolic and ergogenic properties in muscle. Cr is taken from the diet or endogenously synthetized by the enzymes arginine:glycine amidinotransferase and ...
Lara Duran‐Trio, Gabriella Fernandes‐Pires, Jocelyn Grosse, Ines Soro‐Arnaiz, Clothilde Roux‐Petronelli, Pierre‐Alain Binz, Katrien De Bock, Cristina Cudalbu, Carmen Sandi, Olivier Braissant   +9 more
wiley   +1 more source

Dietary Creatine Reduces Lipid Accumulation by Improving Lipid Catabolism in the Herbivorous Grass Carp, Ctenopharyngodon idella

Aquaculture Nutrition, Volume 2022, Issue 1, 2022., 2022
Herein, our goal was to explore the creatine role in the fat suppression of grass carp (GC). In vivo, four semipurified diets containing 5% lipid (normal diet, ND), 8% lipid (high‐fat diet, HFD), 8%lipid + 1%creatine (HFD + CR1), and 8%lipid + 2%creatine (HFD + CR2) were designed and formulated, which were fed to juvenile GC (18.51 ± 0.04 g) for 56 ...
Jing-jing Tian, Yu-ping Li, Yun Xia, Kai Zhang, Zhi-fei Li, Wang-bao Gong, Er-meng Yu, Guang-jun Wang, Jun Xie, Mahmoud Dawood   +9 more
wiley   +1 more source