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

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Variant Phenotype ◽

Urine Disease ◽

Regulatory Defect ◽

Branched Chain ◽

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):

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Complex Expression ◽

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):

Keto Acid ◽

Subunit Gene ◽

Maple Syrup ◽

Molecular Defects ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

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):

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

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):

Structural Abnormality ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

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):

Base Substitution ◽

Keto Acid ◽

Maple Syrup ◽

Single Base ◽

Alternatively Spliced ◽

Urine Disease ◽

Branched Chain ◽

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):

Molecular Basis ◽

Keto Acid ◽

Novel Mutations ◽

Maple Syrup ◽

E2 Gene ◽

Urine Disease ◽

Branched Chain ◽

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):

Beta Subunit ◽

Acid Decarboxylase ◽

Kinetic Properties ◽

Keto Acid ◽

Maple Syrup ◽

Urine Disease ◽

Branched Chain ◽

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

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

10.1016/0925-4439(93)90123-i ◽

1993 ◽

Vol 1225 (1) ◽

pp. 64-70 ◽

Cited By ~ 15

Author(s):

Yoshitaka Nobukini ◽

Hiroshi Mitsubuchi ◽

Yumi Hayashida ◽

Kohji Ohta ◽

Yasuhiro Indo ◽

...

Keyword(s):

Multienzyme Complex ◽

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Screening And Identification ◽

Urine Disease ◽

Branched Chain

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease

Human Mutation ◽

10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0 ◽

1998 ◽

Vol 12 (2) ◽

pp. 136-136 ◽

Cited By ~ 2

Author(s):

Jeffrey Chinsky ◽

Melissa Appel ◽

Shlomo Almashanu ◽

Paul Costeas ◽

Nicholas Ambulos ◽

...

Keyword(s):

Nonsense Mutation ◽

Keto Acid ◽

Subunit Gene ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain

Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.79.10.3300 ◽

1982 ◽

Vol 79 (10) ◽

pp. 3300-3304 ◽

Cited By ~ 21

Author(s):

D. T. Chuang ◽

L. S. Ku ◽

R. P. Cox

Keyword(s):

Keto Acid ◽

Maple Syrup ◽

Acid Dehydrogenase ◽

Urine Disease ◽

Branched Chain ◽

Thiamin Pyrophosphate