Results 71 to 80 of about 13,220 (172)

Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport

HGG Advances
Summary: Creatine phosphate is a high-energy molecule essential for the normal functioning of highly metabolically active organs and tissues. SLC6A8 encodes the only known creatine transporter in humans (CRT1); pathogenic variants result in a ...
Taryn Diep, Gerald S. Lipshutz
doaj   +1 more source

Creatine supplementation during pregnancy: summary of experimental studies suggestion a treatment to improve fetal and neonatal morbidity and reduce mortality in high-risk human pregnancy [PDF]

, 2014
While the use of creatine in human pregnancy is yet to be fully evaluated, its long-term use in healthy adults appears to be safe, and its well documented neuroprotective properties have recently been extended by demonstrations that creatine improves ...
Dickinson, Hayley, Ellery, Stacey, Ireland, Zoe, LaRosa, Domenic, Snow, Rodney, Walker, David W   +5 more
core   +2 more sources

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy

Cell Death and Disease
Creatine (Cr) is essential for cellular energy homeostasis, particularly in muscle and brain tissues. Creatine Transporter Deficiency (CTD), an X-linked disorder caused by mutations in the SLC6A8 gene, disrupts Cr transport, leading to intellectual ...
Irene Pertici, Donato D’Angelo, Denis Vecellio Reane, Massimo Reconditi, Ilaria Morotti, Elena Putignano, Debora Napoli, Giorgia Rastelli, Gaia Gherardi, Agnese De Mario, Rosario Rizzuto, Simona Boncompagni, Laura Baroncelli, Marco Linari, Marco Caremani, Anna Raffaello   +15 more
doaj   +1 more source

A case of atypical systemic primary carnitine deficiency in Saudi Arabia

Pediatric Reports, 2018
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on
Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami   +4 more
doaj   +1 more source

Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageing. [PDF]

, 2016
Prolonged unaccustomed exercise involving muscle lengthening (eccentric) actions can result in ultrastructural muscle disruption, impaired excitation-contraction coupling, inflammation and muscle protein degradation.
A Blanchard, A Dendorfer, A Hirata, A Lucia, A Martinez Amat, A McArdle, A Musarò, A Philippou, A Steensberg, A Steyaert, A-K Niemi, AC Clansey, AC Paul, AD Toft, AE Thalacker-Mercer, AG Holmes, AG Williams, AG Wilson, AH Schmaier, AJ Danser, AJ Murton, AJ Vangsted, AK Akimoto, AL Huerta-Alardín, AL Mackey, AL Mackey, AL Miranda-Vilela, AM Costa, AM Fernández, AM Woolfson, AMW Petersen, AN Belcastro, AP Boesen, AP Sharples, AV September, B Przybyla, B Rigat, B Vincent, B-T Zhang, Barry Drust, BJ Schoenfeld, BJ Schoenfeld, BK Pedersen, BK Pedersen, BK Pedersen, BK Pedersen, BR McKay, BSP Schneider, BT Harmon, C Duan, C Franceschi, C Malm, C McGinley, C Nicol, C Smith, C Sprouse, C Yamin, C Yamin, C Yamin, C Yamin, CA Dinarello, CA Griffin, CD Balnave, CE Stewart, CE Stewart, CE Stewart, CE Stewart, CF Deschepper, CI Morse, CJ Rosen, CK Smith 2nd, Claire E. Stewart, CM Giachelli, CN Moran, CP Fischer, CP Fischer, CS Andreassen, D Bansal, D Cunha Nascimento da, D Fishman, D Renzi, D Szczesna, D Vaughan, D Woods, DC Hughes, DC Nieman, DC Nieman, DG Allen, DG MacArthur, DG MacArthur, DG MacArthur, DH Munzenmaier, DJ Mahoney, DJ Owens, DKI Bring, DL Benoit, DL Costill, DL Morgan, DP Millay, DP Millay, DR Marsh, DS Pereira, DS Pereira, E Dousset, E Pegoraro, EM Pimenta, EM Wilson, EP Hoffman, ER Barton-Davis, F Chimienti, F Dela, F Dela, F Giacopelli, F Grand Le, F Kahles, F Ma, FS Giovine di, FS Tedesco, G Biolo, G Bioque, G Dobrowolny, G Freckleton, G Gayagay, G Howatson, G Paulsen, G Paulsen, GA Rodan, GJ Wilson, GL Warren, GL Warren, GL Warren, H Andersen, H Kuipers, H Langberg, H Staiger, H Toumi, H-J Appell, HC Dreyer, HE Montgomery, HG Brunner, HJ Lee, HL Keller, HL Sweeney, HP Patel, HS Bedair, HX Nguyen, I Rubinstein, IA Wilson, IB Nazarov, II Ahmetov, J Friden, J Friden, J Friden, J Friden, J Lappalainen, J Lossie, J Nielsen, J Peake, J Peake, J Peake, J Peake, J Somboonwong, J Walston, J Yang, JA Patel, JC Mansfield, JD Crane, JD Warren, JG Cannon, JG Tidball, JG Tidball, JG Tidball, JI Barzilay, JM Devaney, JM Nigro, JM Sacheck, JP Gumucio, JP Kirwan, JP Knochel, JP Morton, JR Florini, JR Ruiz, JT Seto, JT Seto, JW Orchard, K Cheung, K DeLellis, K Hamada, K Iwao-Koizumi, K Kanda, K Kirchhoff, K Lemaire, K Nosaka, K Nosaka, K Ostrowski, K Suzuki, K Suzuki, K Tiainen, KG Quinlan, KL Flann, KN North, KN North, KP Goetsch, KP Goetsch, KS Ramaswamy, L Arnold, L Cheng, L Grobler, L Norrbrand, L Qi, L Yahiaoui, LJ Murphey, LL Ploutz-Snyder, LL Smith, LL Smith, M Bennermo, M Bhat, M Cantini, M Catoire, M Collins, M Flück, M Gautel, M Hansen, M Hill, M Inoue, M Karimi, M Kjær, M Kurosaka, M Llovera, M Mills, M Roig, M Yang, M-C Gomez-Cabrera, M-J Laguette, M-K Sim, Mark J. Lake, MB Andersen, MB Reid, MB Reid, MD Boppart, ME Davis, MF Baird, MI Phillips, MJ Hubal, MJ Hubal, MK Childers, MP McHugh, MS Conceição, N Al-Shanti, N Eynon, N Vaessen, N Yang, N Zanou, ND Reeves, NE Allen, OR Seynnes, P Brancaccio, P Huang, P Plomgaard, P Wahl, PA Deuster, Philipp Baumert, PM Clarkson, PM Clarkson, PM Clarkson, PM Clarkson, PM Gordon, PR Ling, PS Zammit, R Bottinelli, R Dewberry, R Jiménez-Jiménez, R Knoll, R Pruna, R Robinson, R Roubenoff, R Starkie, R Zalin, RA Dennis, RA Fielding, RA Fielding, RB Armstrong, RB Armstrong, RB Armstrong, RD Bell, RD Hyldahl, RL Chambers, RM Erskine, RM Lovering, Robert M. Erskine, RS Thiebaud, S Asp, S Asp, S Ben-Zaken, S Ben-Zaken, S Broos, S Brown, S Cauci, S Chan, S Doessing, S Fujita, S Harrison, S Jiao, S Murase, S Myerson, S Santtila, S Shimoda-Matsubayashi, S Walsh, S Zanotti, SA Borinskaya, SC Bodine, SD O’Dell, SE Borst, SE Gordon, SI Head, SJ Brown, SJ Brown, SK Powers, SM Hughes, SM Roth, SOA Koskinen, SS Funghetto, SV Brooks, SY Yang, T Barker, T Gysel, T Raastad, T Rankinen, T Rein, T Snijders, T Venckunas, T Wallimann, TA Butterfield, TA Hornberger, TA Luger, TG Manfredi, TJ Hawke, U Proske, V Babenko, VA Fadok, VC Duance, W Matheny, W Siems, W Wei, WB Ershler, WB Kibler, WL Barfield, WR Thompson, WT Stauber, Y Heled, Y Song, Y Torrente, Y-C Wang, YJ Suzuki, YP Li, YP Li, YT Joffe, ZB Yu   +357 more
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Ammonia toxicity to the brain [PDF]

, 2018
Hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle defects. The brain is much more susceptible to the deleterious effects of ammonium in childhood than in adulthood.
Braissant, Olivier, Cudalbu, Cristina, McLin, Valérie   +2 more
core  

Osmolytes as mediators of the muscle tissue’s responses to inflammation : emerging regulators of myositis with therapeutic potential [PDF]

, 2017
Chronic inflammation of skeletal muscle tissues termed myositis is associated with inherited muscular dystrophy and with acquired inflammatory myopathy.
De Paepe, Boel
core   +1 more source

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect [PDF]

, 2015
Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and ...
Bene, Judit, Burhan Oflaz, Mehmet, Melegh, Béla, Mutlu-Albayrak, Hatice, Tanyalçın, Tijen, Çaksen, Hüseyin   +5 more
core   +2 more sources

"Nutraceuticals" in relation to human skeletal muscle and exercise. [PDF]

, 2017
Skeletal muscles have a fundamental role in locomotion and whole body metabolism, with muscle mass and quality being linked to improved health and even lifespan.
Bethan E. Phillips, Bloch K, Colleen S. Deane, Daniel J. Wilkinson, Dempsey RL, Hirsh S, Huffman DM, Jouris KB, Kenneth Smith, Kraemer WJ, Newsholme P, Philip J. Atherton, Timothy Etheridge, Vukovich MD, Ziegenfuss T   +14 more
core   +2 more sources

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source