Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:Glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

Autor: Danpure, C. J., Purdue, P. E., Fryer, P., Griffiths, S., Allsop, J., Lumb, M. J., Guttridge, K. M., Jennings, P. R., Scheinman, J. I., Mauer, S. M., Davidson, N. O.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Three unrelated PH1 patients, who possess a novel complex phenotype, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::126e09723608b0aa594e4a8af165e051
https://europepmc.org/articles/PMC1682352/

Folinic Acid Protection Against Nitrous Oxide Teratogenicity in the Rat.

Autor: Keeling, P. A., Rocke, D. A., Nunn, J. F., Monk, S. J., Lumb, M. J., Halsey, M. J.

Publikováno v: Survey of Anesthesiology; Feb1987, Vol. 31 Issue 1, p8-9, 2p

Expert consensus on the terminology, diagnostics and management of persisting symptoms after concussion with a focus on mental health, postural stability, electroencephalogram and balance testing: A cross-sectional Delphi-like survey.

Autor: Lumb MJ; Division of Movement Science and Exercise Therapy, The Movement Laboratory, Department of Exercise, Sport & Lifestyle Medicine, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, Western Cape, South Africa., Welman K; Division of Movement Science and Exercise Therapy, The Movement Laboratory, Department of Exercise, Sport & Lifestyle Medicine, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, Western Cape, South Africa., Snegireva N; Division of Movement Science and Exercise Therapy, The Movement Laboratory, Department of Exercise, Sport & Lifestyle Medicine, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, Western Cape, South Africa.

Publikováno v: South African journal of sports medicine [S Afr J Sports Med] 2024 Jul 15; Vol. 36 (1), pp. v36i1a17870. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

Autor: Lumb MJ; Medical Research Council Laboratory for Molecular Cell Biology and the Department of Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom., Danpure CJ

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2000 Nov 17; Vol. 275 (46), pp. 36415-22.

Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1.

Autor: Danpure CJ; MRC Laboratory for Molecular Cell Biology, University College London, United Kingdom., Jennings PR, Leiper JM, Lumb MJ, Oatey PB

Publikováno v: Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 1996 Dec 27; Vol. 804, pp. 477-90.