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.

Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda

doi:10.1172/jci113064

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.

Journal of Clinical Investigation ◽

10.1172/jci113064 ◽

1987 ◽

Vol 80 (1) ◽

pp. 63-70 ◽

Cited By ~ 35

Author(s):

Y Indo ◽

A Kitano ◽

F Endo ◽

I Akaboshi ◽

I Matsuda

Keyword(s):

Maple Syrup Urine Disease ◽

Beta Subunit ◽

Acid Decarboxylase ◽

Kinetic Properties ◽

Keto Acid ◽

Maple Syrup ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)68408-x ◽

1988 ◽

Vol 263 (18) ◽

pp. 9007-9014 ◽

Cited By ~ 3

Author(s):

C W Hu ◽

K S Lau ◽

T A Griffin ◽

J L Chuang ◽

C W Fisher ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Complex Expression ◽

Dehydrogenase Complex

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Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ◽

10.1016/0925-4439(94)90013-2 ◽

1994 ◽

Vol 1225 (3) ◽

pp. 317-325 ◽

Cited By ~ 13

Author(s):

Y HAYASHIDA ◽

H MITSUBUCHI ◽

Y INDO ◽

K OHTA ◽

F ENDO ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Base Substitution ◽

Keto Acid ◽

Maple Syrup ◽

Single Base ◽

Alternatively Spliced ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

Journal of Clinical Investigation ◽

10.1172/jci115363 ◽

1991 ◽

Vol 88 (3) ◽

pp. 1034-1037 ◽

Cited By ~ 32

Author(s):

C R Fisher ◽

J L Chuang ◽

R P Cox ◽

C W Fisher ◽

R A Star ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Molecular defects of the branched-chain α-keto acid dehydrogenase complex: Maple syrup urine disease due to mutations of the E1α or E1β subunit gene

Alpha-Keto Acid Dehydrogenase Complexes ◽

10.1007/978-3-0348-8981-0_17 ◽

1996 ◽

pp. 227-247 ◽

Cited By ~ 1

Author(s):

Y. Indo ◽

I. Matsuda

Keyword(s):

Maple Syrup Urine Disease ◽

Keto Acid ◽

Subunit Gene ◽

Maple Syrup ◽

Molecular Defects ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Human Mutation ◽

10.1002/humu.22242 ◽

2012 ◽

Vol 34 (2) ◽

pp. 355-362 ◽

Cited By ~ 38

Author(s):

Alfonso Oyarzabal ◽

Mercedes Martínez-Pardo ◽

Begoña Merinero ◽

Rosa Navarrete ◽

Lourdes R Desviat ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Variant Phenotype ◽

Urine Disease ◽

Regulatory Defect ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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A structural abnormality of E1 component of the branched-chain α-keto acid dehydrogenase complex in maple syrup urine disease

Journal of Inherited Metabolic Disease ◽

10.1007/bf01800082 ◽

1987 ◽

Vol 10 (3) ◽

pp. 281-283

Author(s):

Y. Indo ◽

A. Kitano ◽

I. Akaboshi ◽

F. Endo ◽

I. Matsuda

Keyword(s):

Maple Syrup Urine Disease ◽

Structural Abnormality ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex

Journal of Human Genetics ◽

10.1007/s100380050047 ◽

1998 ◽

Vol 43 (2) ◽

pp. 91-100 ◽

Cited By ~ 16

Author(s):

Motoko Tsuruta ◽

Hiroshi Mitsubuchi ◽

S. Mardy ◽

Yuichi Miura ◽

Yumi Hayashida ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Molecular Basis ◽

Keto Acid ◽

Novel Mutations ◽

Maple Syrup ◽

E2 Gene ◽

Urine Disease ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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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.

Journal of Clinical Investigation ◽

10.1172/jci115209 ◽

1991 ◽

Vol 87 (5) ◽

pp. 1862-1866 ◽

Cited By ~ 25

Author(s):

Y Nobukuni ◽

H Mitsubuchi ◽

I Akaboshi ◽

Y Indo ◽

F Endo ◽

...

Keyword(s):

Maple Syrup Urine Disease ◽

Repeat Sequence ◽

Beta Subunit ◽

Leader Peptide ◽

Mitochondrial Targeting ◽

Maple Syrup ◽

Urine Disease ◽

Branched Chain ◽

Ketoacid Dehydrogenase ◽

Dehydrogenase Complex

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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

Journal of Clinical Investigation ◽

10.1172/jci114690 ◽

1990 ◽

Vol 86 (1) ◽

pp. 242-247 ◽

Cited By ~ 22

Author(s):

Y Nobukuni ◽

H Mitsubuchi ◽

F Endo ◽

I Akaboshi ◽

J Asaka ◽

...

Keyword(s):

Nucleotide Sequence ◽

Maple Syrup Urine Disease ◽

Primary Structure ◽

Beta Subunit ◽

Maple Syrup ◽

Urine Disease ◽

Branched Chain ◽

Ketoacid Dehydrogenase ◽

Complete Primary Structure ◽

Dehydrogenase Complex

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Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)46029-2 ◽

1992 ◽

Vol 267 (3) ◽

pp. 1881-1887

Author(s):

R M Wynn ◽

J L Chuang ◽

J R Davie ◽

C W Fisher ◽

M A Hale ◽

...

Keyword(s):

Escherichia Coli ◽

Beta Subunit ◽

Cloning And Expression ◽

Keto Acid ◽

Binding Region ◽

Expression In Escherichia Coli ◽

Acid Dehydrogenase ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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