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Items: 1 to 20 of 103

1.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631.

2.

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.

Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513.

PMID:
24449431
3.

Neuroscience. Preventable forms of autism?

Beaudet AL.

Science. 2012 Oct 19;338(6105):342-3. doi: 10.1126/science.1229178. No abstract available.

4.

Simvastatin increases liver branched-chain α-ketoacid dehydrogenase activity in rats fed with low protein diet.

Knapik-Czajka M.

Toxicology. 2014 Nov 5;325:107-14. doi: 10.1016/j.tox.2014.09.001.

PMID:
25193403
5.

Studies on the regulation of the mitochondrial alpha-ketoacid dehydrogenase complexes and their kinases.

Harris RA, Hawes JW, Popov KM, Zhao Y, Shimomura Y, Sato J, Jaskiewicz J, Hurley TD.

Adv Enzyme Regul. 1997;37:271-93.

PMID:
9381974
6.

Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.

Lu G, Sun H, She P, Youn JY, Warburton S, Ping P, Vondriska TM, Cai H, Lynch CJ, Wang Y.

J Clin Invest. 2009 Jun;119(6):1678-87. doi: 10.1172/JCI38151.

7.

Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.

Joshi MA, Jeoung NH, Obayashi M, Hattab EM, Brocken EG, Liechty EA, Kubek MJ, Vattem KM, Wek RC, Harris RA.

Biochem J. 2006 Nov 15;400(1):153-62.

8.

A molecular model of human branched-chain amino acid metabolism.

Suryawan A, Hawes JW, Harris RA, Shimomura Y, Jenkins AE, Hutson SM.

Am J Clin Nutr. 1998 Jul;68(1):72-81.

PMID:
9665099
9.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.

Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248.

PMID:
23161826
10.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
11.

Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.

Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC.

BMC Med Genet. 2016 Feb 3;17:8. doi: 10.1186/s12881-016-0272-8.

12.

A new family of protein kinases--the mitochondrial protein kinases.

Harris RA, Popov KM, Zhao Y, Kedishvili NY, Shimomura Y, Crabb DW.

Adv Enzyme Regul. 1995;35:147-62.

PMID:
7572341
13.

Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.

Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW.

Adv Enzyme Regul. 1990;30:245-63.

PMID:
2403034
14.

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E.

J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083.

PMID:
26048982
15.

Purification, characterization, regulation and molecular cloning of mitochondrial protein kinases.

Harris RA, Popov KM, Shimomura Y, Zhao Y, Jaskiewicz J, Nanaumi N, Suzuki M.

Adv Enzyme Regul. 1992;32:267-84.

PMID:
1496922
16.

Regulation of branched-chain alpha-ketoacid dehydrogenase complex by covalent modification.

Harris RA, Paxton R, Powell SM, Goodwin GW, Kuntz MJ, Han AC.

Adv Enzyme Regul. 1986;25:219-37.

PMID:
3028049
17.

Effects of liver failure on branched-chain alpha-keto acid dehydrogenase complex in rat liver and muscle: comparison between acute and chronic liver failure.

Honda T, Fukuda Y, Nakano I, Katano Y, Goto H, Nagasaki M, Sato Y, Murakami T, Shimomura Y.

J Hepatol. 2004 Mar;40(3):439-45.

PMID:
15123358
18.

Stimulation of rat liver branched-chain alpha-keto acid dehydrogenase activity by low doses of bezafibrate.

Knapik-Czajka M.

Toxicology. 2013 Apr 5;306:101-7. doi: 10.1016/j.tox.2013.02.011.

PMID:
23485652
19.

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F.

BMC Med Genet. 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26.

20.

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.

Zigler JS Jr, Hodgkinson CA, Wright M, Klise A, Sundin O, Broman KW, Hejtmancik F, Huang H, Patek B, Sergeev Y, Hose S, Brayton C, Xaiodong J, Vasquez D, Maragakis N, Mori S, Goldman D, Hoke A, Sinha D.

PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447.

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