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Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I. Nobukuni Y, et al. Among authors: endo f. Biochim Biophys Acta. 1993 Nov 25;1225(1):64-70. doi: 10.1016/0925-4439(93)90123-i. Biochim Biophys Acta. 1993. PMID: 8161368
All except one (11-bp deletion in E1 beta (Nobukuni, Y., Mitsubuchi, H., Akaboshi, I., Indo, Y., Endo, F., Yoshioka, A. and Matsuda, I. (1991) J. Clin. Invest. 87, 1862-1866)) were novel mutations. ...
All except one (11-bp deletion in E1 beta (Nobukuni, Y., Mitsubuchi, H., Akaboshi, I., Indo, Y., Endo, F., Yoshioka, A. and Ma …
Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I. Hayashida Y, et al. Among authors: endo f. Biochim Biophys Acta. 1994 Feb 22;1225(3):317-25. doi: 10.1016/0925-4439(94)90013-2. Biochim Biophys Acta. 1994. PMID: 8312380
[Gene analysis of maple syrup urine disease (MSUD)].
Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I. Mitsubuchi H, et al. Among authors: endo f. Rinsho Byori. 1993 May;41(5):484-91. Rinsho Byori. 1993. PMID: 8350511 Review. Japanese.
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I. Mitsubuchi H, et al. Among authors: endo f. J Clin Invest. 1991 Apr;87(4):1207-11. doi: 10.1172/JCI115120. J Clin Invest. 1991. PMID: 2010537 Free PMC article.
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I. Nobukuni Y, et al. Among authors: endo f. J Clin Invest. 1991 May;87(5):1862-6. doi: 10.1172/JCI115209. J Clin Invest. 1991. PMID: 2022752 Free PMC article.
449 results