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Literature DB >> 8051937

Maple syrup urine disease 1954 to 1993.

F Peinemann¹, D J Danner.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1994 PMID： 8051937 DOI： 10.1007/bf00735389

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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75 in total

1. Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.

Authors: M C McKean; K A Winkeler; D J Danner
Journal: Biochim Biophys Acta Date: 1992-11-15

2. Maple syrup urine disease.

Authors: J DANCIS; M LEVITZ; S MILLER; R G WESTALL
Journal: Br Med J Date: 1959-01-10

Review 3. Stress proteins and mitochondrial protein import.

Authors: N Pfanner; J Ostermann; J Rassow; F U Hartl; W Neupert
Journal: Antonie Van Leeuwenhoek Date: 1990-10 Impact factor: 2.271

Review 4. Mechanisms of mitochondrial protein import.

Authors: N Pfanner; A Weinzierl
Journal: Int J Biochem Date: 1992

5. Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.

Authors: G Pons; C Raefsky-Estrin; D J Carothers; R A Pepin; A A Javed; B W Jesse; M K Ganapathi; D Samols; M S Patel
Journal: Proc Natl Acad Sci U S A Date: 1988-03 Impact factor: 11.205

6. Amino acid sequence at the major phosphorylation site on bovine kidney branched-chain 2-oxoacid dehydrogenase complex.

Authors: K G Cook; R Lawson; S J Yeaman; A Aitken
Journal: FEBS Lett Date: 1983-11-28 Impact factor: 4.124

7. 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.

Authors: Y Nobukuni; H Mitsubuchi; I Akaboshi; Y Indo; F Endo; A Yoshioka; I Matsuda
Journal: J Clin Invest Date: 1991-05 Impact factor: 14.808

8. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

Authors: B Zhang; H J Edenberg; D W Crabb; R A Harris
Journal: J Clin Invest Date: 1989-04 Impact factor: 14.808

9. 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.

Authors: Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda
Journal: J Clin Invest Date: 1987-07 Impact factor: 14.808

Maple syrup urine disease 1954 to 1993.

1. Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.

2. Maple syrup urine disease.

Review 3. Stress proteins and mitochondrial protein import.

Review 4. Mechanisms of mitochondrial protein import.

5. Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.

6. Amino acid sequence at the major phosphorylation site on bovine kidney branched-chain 2-oxoacid dehydrogenase complex.

7. 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.

8. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

9. 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.

10. Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.

1. Saudi aminoacidemias: a six-year study.

Review 2. Apoptosis in neural development and disease.

3. Gene preference in maple syrup urine disease.

4. Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease.

5. BCAA-BCKA axis regulates WAT browning through acetylation of PRDM16.

Review 6. Animal models of maple syrup urine disease.

7. Production and characterization of murine models of classic and intermediate maple syrup urine disease.