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Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I. Indo Y, et al. Among authors: matsuda i. J Clin Invest. 1987 Jul;80(1):63-70. doi: 10.1172/JCI113064. J Clin Invest. 1987. PMID: 3597778 Free PMC article.
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: matsuda i. 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. ...
All except one (11-bp deletion in E1 beta (Nobukuni, Y., Mitsubuchi, H., Akaboshi, I., Indo, Y., Endo, F., Yoshioka, A. and Matsud …
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: matsuda i. 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: matsuda i. Rinsho Byori. 1993 May;41(5):484-91. Rinsho Byori. 1993. PMID: 8350511 Review. Japanese.
[Maple syrup urine disease].
Indo Y, Matsuda I. Indo Y, et al. Among authors: matsuda i. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):201-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590028 Review. Japanese. No abstract available.
856 results