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Publikováno v:
Molecular Genetics and Metabolism. 113(4):243-252
Homocysteine (Hcy) is a sulfur-containing non-protein forming amino acid, which is synthesized from methionine as an important intermediate in the one-carbon pathway. High concentrations of Hcy in a condition called hyperhomocysteinemia (HHcy) are an
Autor:
Anna Pastore, Fiorella Piemonte, Chiara Aiello, Aurora Pujol, Giulia Tozzi, Enrico Bertini, Sara Petrillo, Marco Cappa
Publikováno v:
Molecular Genetics and Metabolism; Vol 109
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism
Background X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues. Recent evidence shows that oxidati
Autor:
David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP
Publikováno v:
Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601
Item does not contain fulltext Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 miss
Autor:
Virginie Vauthier, Christèle Dubourg, Julie Dam, Hubert Journel, Sylvie Jaillard, Ralf Jockers
Publikováno v:
Molecular Genetics and Metabolism; Vol 106
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
International audience; CONTEXT: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS: We describe here a 7-year old patient with a ho
Autor:
Filip Vanhoenacker, Stefan Goemaere, Hans-Georg Zmierczak, René Westhovens, Greet Beyens, Piet Geusens, Leon Verbruggen, Steven Boonen, Wim Van Hul, Jan Van Offel, Jean-Pierre Devogelaer, Fenna de Freitas, Pui Yan Jenny Chung
Publikováno v:
Molecular genetics and metabolism
Molecular Genetics and Metabolism, 103(3), 287-292. Academic Press Inc.
Molecular Genetics and Metabolism, 103(3), 287-292. Academic Press Inc.
Paget's disease of bone (PDB) is, after osteoporosis, the second most common metabolic bone disorder in the elderly Caucasian population. Mutations in the sequestosome 1 gene (SQSTM1) are responsible for the etiology of PDB in a subset of patients, b
Autor:
Leo J.M. Spaapen, Bianca Panis, Luc J. I. Zimmermann, M. Estela Rubio-Gozalbo, Paul P.C.A. Menheere
Publikováno v:
Molecular Genetics and Metabolism, 89(4), 316-322. Academic Press Inc.
Endocrine abnormalities in classical galactosemia, female hypergonadotropic hypogonadism and low thyroxin in neonates, have been reported. Galactosemia is a secondary glycosylation disorder and hypoglycosylation of glycoproteins has a role in this dy
Autor:
Petra M.H. Eurlings, Tjerk W.A. de Bruin, Carla J.H. van der Kallen, Vicky M. M.-J. Vermeulen
Publikováno v:
Molecular Genetics and Metabolism, 80(3), 296-301. Academic Press Inc.
Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia.Eurlings PM, van der Kallen CJ, Vermeulen VM, de Bruin TW.Department of Internal Medicine, Laboratory of Molecular Metabolism and Endocrinolo