BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 35216372)

  • 1. Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
    Boemer F; Josse C; Luis G; Di Valentin E; Thiry J; Cello C; Caberg JH; Dadoumont C; Harvengt J; Lumaka A; Bours V; Debray FG
    Int J Mol Sci; 2022 Feb; 23(4):. PubMed ID: 35216372
    [TBL] [Abstract][Full Text] [Related]  

  • 2. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
    Tangeraas T; Constante JR; Backe PH; Oyarzábal A; Neugebauer J; Weinhold N; Boemer F; Debray FG; Ozturk-Hism B; Evren G; Tuba EF; Ummuhan O; Footitt E; Davison J; Martinez C; Bueno C; Machado I; Rodríguez-Pombo P; Al-Sannaa N; De Los Santos M; López JM; Ozturkmen-Akay H; Karaca M; Tekin M; Pajares S; Ormazabal A; Stoway SD; Artuch R; Dixon M; Mørkrid L; García-Cazorla A
    Brain; 2023 Jul; 146(7):3003-3013. PubMed ID: 36729635
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 338(6105):394-7. PubMed ID: 22956686
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phosphorylation of BCKDK of BCAA catabolism at Y246 by Src promotes metastasis of colorectal cancer.
    Tian Q; Yuan P; Quan C; Li M; Xiao J; Zhang L; Lu H; Ma T; Zou L; Wang F; Xue P; Ni X; Wang W; Liu L; Wang Z; Zhu F; Duan Q
    Oncogene; 2020 May; 39(20):3980-3996. PubMed ID: 32238881
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.
    Zigler JS; 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; 11(7):e0160447. PubMed ID: 27472223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Gain-of-Function Mutation on
    Maguolo A; Rodella G; Giorgetti A; Nicolodi M; Ribeiro R; Dianin A; Cantalupo G; Monge I; Carcereri S; De Bernardi ML; Delledonne M; Pasini A; Campostrini N; Ion Popa F; Piacentini G; Teofoli F; Vincenzi M; Camilot M; Bordugo A
    Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205278
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Branched-chain ketoacid overload inhibits insulin action in the muscle.
    Biswas D; Dao KT; Mercer A; Cowie AM; Duffley L; El Hiani Y; Kienesberger PC; Pulinilkunnil T
    J Biol Chem; 2020 Nov; 295(46):15597-15621. PubMed ID: 32878988
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial pyruvate carrier inhibition initiates metabolic crosstalk to stimulate branched chain amino acid catabolism.
    Ferguson D; Eichler SJ; Yiew NKH; Colca JR; Cho K; Patti GJ; Shew TM; Lutkewitte AJ; Mukherjee S; McCommis KS; Niemi NM; Finck BN
    Mol Metab; 2023 Apr; 70():101694. PubMed ID: 36801448
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 24449431
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cell-autonomous effect of cardiomyocyte branched-chain amino acid catabolism in heart failure in mice.
    Yu JY; Cao N; Rau CD; Lee RP; Yang J; Flach RJR; Petersen L; Zhu C; Pak YL; Miller RA; Liu Y; Wang Y; Li Z; Sun H; Gao C
    Acta Pharmacol Sin; 2023 Jul; 44(7):1380-1390. PubMed ID: 36991098
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Developmental Defects of Caenorhabditis elegans Lacking Branched-chain α-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency.
    Jia F; Cui M; Than MT; Han M
    J Biol Chem; 2016 Feb; 291(6):2967-73. PubMed ID: 26683372
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Changes in tissue abundance and activity of enzymes related to branched-chain amino acid catabolism in dairy cows during early lactation.
    Webb LA; Sadri H; von Soosten D; Dänicke S; Egert S; Stehle P; Sauerwein H
    J Dairy Sci; 2019 Apr; 102(4):3556-3568. PubMed ID: 30712942
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency.
    Ohl L; Kuhs A; Pluck R; Durham E; Noji M; Philip ND; Arany Z; Ahrens-Nicklas RC
    Mol Genet Metab Rep; 2024 Jun; 39():101091. PubMed ID: 38770403
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diabetes and branched-chain amino acids: What is the link?
    Bloomgarden Z
    J Diabetes; 2018 May; 10(5):350-352. PubMed ID: 29369529
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Berberine alleviates insulin resistance by reducing peripheral branched-chain amino acids.
    Yue SJ; Liu J; Wang AT; Meng XT; Yang ZR; Peng C; Guan HS; Wang CY; Yan D
    Am J Physiol Endocrinol Metab; 2019 Jan; 316(1):E73-E85. PubMed ID: 30422704
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Stimulation of rat liver branched-chain alpha-keto acid dehydrogenase activity by low doses of bezafibrate.
    Knapik-Czajka M
    Toxicology; 2013 Apr; 306():101-7. PubMed ID: 23485652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer.
    Xue P; Zeng F; Duan Q; Xiao J; Liu L; Yuan P; Fan L; Sun H; Malyarenko OS; Lu H; Xiu R; Liu S; Shao C; Zhang J; Yan W; Wang Z; Zheng J; Zhu F
    EBioMedicine; 2017 Jun; 20():50-60. PubMed ID: 28501528
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.
    Bravo-Alonso I; Oyarzabal A; Sánchez-Aragó M; Rejas MT; Merinero B; García-Cazorla A; Artuch R; Ugarte M; Rodríguez-Pombo P
    Data Brief; 2016 Jun; 7():755-9. PubMed ID: 27054191
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Insulin action, type 2 diabetes, and branched-chain amino acids: A two-way street.
    White PJ; McGarrah RW; Herman MA; Bain JR; Shah SH; Newgard CB
    Mol Metab; 2021 Oct; 52():101261. PubMed ID: 34044180
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structural studies identify angiotensin II receptor blocker-like compounds as branched-chain ketoacid dehydrogenase kinase inhibitors.
    Liu S; Kormos BL; Knafels JD; Sahasrabudhe PV; Rosado A; Sommese RF; Reyes AR; Ward J; Roth Flach RJ; Wang X; Buzon LM; Reese MR; Bhattacharya SK; Omoto K; Filipski KJ
    J Biol Chem; 2023 Mar; 299(3):102959. PubMed ID: 36717078
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.