Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Angels García-Cazorla; Alfonso Oyarzabal; Joana Fort; Concepción Robles; Esperanza Castejón; Pedro Ruiz-Sala; Susanna Bodoy; Begoña Merinero; Anna Lopez-Sala; Joaquín Dopazo; Virginia Nunes; Magdalena Ugarte; Rafael Artuch; Manuel Palacín; Pilar Rodríguez-Pombo; Patricia Alcaide; Rosa Navarrete; Paloma Sanz; Mariona Font-Llitjós; Ma Antonia Vilaseca; Aida Ormaizabal; Anna Pristoupilova; Sergi Beltran Agulló

doi:10.1002/humu.22513

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Human Mutation ◽

10.1002/humu.22513 ◽

2014 ◽

Vol 35 (4) ◽

pp. 470-477 ◽

Cited By ~ 37

Author(s):

Angels García-Cazorla ◽

Alfonso Oyarzabal ◽

Joana Fort ◽

Concepción Robles ◽

Esperanza Castejón ◽

...

Keyword(s):

Keto Acid ◽

Novel Mutations ◽

Kinase Gene ◽

Acid Dehydrogenase ◽

Branched Chain

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Regulation of Branched-Chain α-Keto Acid Dehydrogenase Kinase Gene Expression by Glucocorticoids in Hepatoma Cells and Rat Liver

Branched-Chain Amino Acids, Part B - Methods in Enzymology ◽

10.1016/s0076-6879(00)24257-2 ◽

2000 ◽

pp. 498-511 ◽

Cited By ~ 4

Author(s):

Yi-Shuian Huang ◽

David T. Chuang

Keyword(s):

Gene Expression ◽

Rat Liver ◽

Hepatoma Cells ◽

Keto Acid ◽

Kinase Gene ◽

Acid Dehydrogenase ◽

Branched Chain

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Branched-Chain Transaminase and Keto Acid Dehydrogenase Activities in Burned Rats: Evidence for a Differential Adaptation According to Sex

Nutrition ◽

10.1016/s0899-9007(97)00132-9 ◽

1997 ◽

Vol 13 (7-8) ◽

pp. 640-645

Author(s):

Y Qing

Keyword(s):

Keto Acid ◽

Acid Dehydrogenase ◽

Differential Adaptation ◽

Branched Chain

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Characterization of the promoter-regulatory region and structural organization of E1 alpha gene (BCKDHA) of human branched-chain alpha-keto acid dehydrogenase complex.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)53097-0 ◽

1993 ◽

Vol 268 (11) ◽

pp. 8309-8316

Author(s):

J.L. Chuang ◽

R.P. Cox ◽

D.T. Chuang

Keyword(s):

Structural Organization ◽

Regulatory Region ◽

Keto Acid ◽

Acid Dehydrogenase ◽

Alpha Gene ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Subunit structure of the dihydrolipoyl transacylase component of branched-chain alpha-keto acid dehydrogenase complex from bovine liver. Mapping of the lipoyl-bearing domain by limited proteolysis.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)42477-x ◽

1986 ◽

Vol 261 (1) ◽

pp. 343-349 ◽

Cited By ~ 8

Author(s):

C W Hu ◽

T A Griffin ◽

K S Lau ◽

R P Cox ◽

D T Chuang

Keyword(s):

Limited Proteolysis ◽

Bovine Liver ◽

Subunit Structure ◽

Keto Acid ◽

Acid Dehydrogenase ◽

Liver Mapping ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

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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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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Mechanism of increased conversion of branched chain keto acid dehydrogenase from inactive to active form by a medium chain fatty acid (octanoate) in skeletal muscle.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)49897-9 ◽

1992 ◽

Vol 267 (16) ◽

pp. 11208-11214

Author(s):

H.S. Paul ◽

S.A. Adibi

Keyword(s):

Skeletal Muscle ◽

Fatty Acid ◽

Active Form ◽

Chain Fatty Acid ◽

Medium Chain Fatty Acid ◽

Keto Acid ◽

Medium Chain ◽

Acid Dehydrogenase ◽

Branched Chain

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Dietary L-carnitine suppresses mitochondrial branched-chain keto acid dehydrogenase activity and enhances protein accretion and carcass characteristics of swine.

Journal of Animal Science ◽

10.2527/2001.79123104x ◽

2001 ◽

Vol 79 (12) ◽

pp. 3104 ◽

Cited By ~ 58

Author(s):

K Q Owen ◽

H Jit ◽

C V Maxwell ◽

J L Nelssen ◽

R D Goodband ◽

...

Keyword(s):

Dehydrogenase Activity ◽

Carcass Characteristics ◽

Keto Acid ◽

Acid Dehydrogenase ◽

Branched Chain

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Hepatic Branched-Chain .ALPHA.-Keto Acid Dehydrogenase Complex in Female Rats: Activation by Exercise and Starvation.

Journal of Nutritional Science and Vitaminology ◽

10.3177/jnsv.45.303 ◽

1999 ◽

Vol 45 (3) ◽

pp. 303-309 ◽

Cited By ~ 20

Author(s):

Rumi KOBAYASHI ◽

Yoshiharu SHIMOMURA ◽

Taro MURAKAMI ◽

Naoya NAKAI ◽

Megumi OTSUKA ◽

...

Keyword(s):

Female Rats ◽

Keto Acid ◽

Acid Dehydrogenase ◽

Branched Chain ◽

Acid Dehydrogenase Complex ◽

Dehydrogenase Complex

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Sequence conservation in the α and β subunits of pyruvate dehydrogenase and its similarity to branched-chain α-keto acid dehydrogenase

FEBS Letters ◽

10.1016/0014-5793(91)80479-m ◽

1991 ◽

Vol 282 (1) ◽

pp. 209-213 ◽

Cited By ~ 37

Author(s):

Isaiah D. Wexler ◽

Sullia G. Hemalatha ◽

Mulchand S. Patel

Keyword(s):

Pyruvate Dehydrogenase ◽

Sequence Conservation ◽

Keto Acid ◽

Acid Dehydrogenase ◽

Α And Β Subunits ◽

Branched Chain

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