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104 results

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Page 1
Branched-chain amino acid catabolism breaks glutamine addiction to sustain hepatocellular carcinoma progression.
Yang D, Liu H, Cai Y, Lu K, Zhong X, Xing S, Song W, Zhang Y, Ye L, Zhu X, Wang T, Zhang P, Li ST, Feng J, Jia W, Zhang H, Gao P. Yang D, et al. Cell Rep. 2022 Nov 22;41(8):111691. doi: 10.1016/j.celrep.2022.111691. Cell Rep. 2022. PMID: 36417878 Free article.
Mechanistically, O-GlcNAcylation increases under glutamine-deprivation conditions and stabilizes the PPM1K protein, leading to dephosphorylation of BCKDHA and enhanced decomposition of BCAAs. Dephosphorylation of BCKDHA and high expression of PPM1K promote tumorigen …
Mechanistically, O-GlcNAcylation increases under glutamine-deprivation conditions and stabilizes the PPM1K protein, leading to dephosphoryla …
Branched-chain amino acids in metabolic signalling and insulin resistance.
Lynch CJ, Adams SH. Lynch CJ, et al. Nat Rev Endocrinol. 2014 Dec;10(12):723-36. doi: 10.1038/nrendo.2014.171. Epub 2014 Oct 7. Nat Rev Endocrinol. 2014. PMID: 25287287 Free PMC article. Review.
Research on the role of individual and model-dependent differences in BCAA metabolism is needed, as several genes (BCKDHA, PPM1K, IVD and KLF15) have been designated as candidate genes for obesity and/or T2DM in humans, and distinct phenotypes of tissue-specific branched c …
Research on the role of individual and model-dependent differences in BCAA metabolism is needed, as several genes (BCKDHA, PPM1K, IVD …
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Levin MG, Tsao NL, Singhal P, Liu C, Vy HMT, Paranjpe I, Backman JD, Bellomo TR, Bone WP, Biddinger KJ, Hui Q, Dikilitas O, Satterfield BA, Yang Y, Morley MP, Bradford Y, Burke M, Reza N, Charest B; Regeneron Genetics Center; Judy RL, Puckelwartz MJ, Hakonarson H, Khan A, Kottyan LC, Kullo I, Luo Y, McNally EM, Rasmussen-Torvik LJ, Day SM, Do R, Phillips LS, Ellinor PT, Nadkarni GN, Ritchie MD, Arany Z, Cappola TP, Margulies KB, Aragam KG, Haggerty CM, Joseph J, Sun YV, Voight BF, Damrauer SM. Levin MG, et al. Nat Commun. 2022 Nov 14;13(1):6914. doi: 10.1038/s41467-022-34216-6. Nat Commun. 2022. PMID: 36376295 Free PMC article.
Colocalization, gene expression profiling, and Mendelian randomization provide convergent evidence for the roles of BCKDHA and circulating branch-chain amino acids in heart failure and cardiac structure. ...
Colocalization, gene expression profiling, and Mendelian randomization provide convergent evidence for the roles of BCKDHA and circul …
Targeting BCAT1 Combined with α-Ketoglutarate Triggers Metabolic Synthetic Lethality in Glioblastoma.
Zhang B, Peng H, Zhou M, Bao L, Wang C, Cai F, Zhang H, Wang JE, Niu Y, Chen Y, Wang Y, Hatanpaa KJ, Copland JA, DeBerardinis RJ, Wang Y, Luo W. Zhang B, et al. Cancer Res. 2022 Jul 5;82(13):2388-2402. doi: 10.1158/0008-5472.CAN-21-3868. Cancer Res. 2022. PMID: 35499760 Free PMC article.
However, AKG failed to evoke a synthetic lethal effect with loss of BCAT2, BCKDHA, or GPT2 in IDHWT GBM cells. Mechanistically, loss of BCAT1 increased the NAD+/NADH ratio but impaired oxidative phosphorylation, mTORC1 activity, and nucleotide biosynthesis. ...
However, AKG failed to evoke a synthetic lethal effect with loss of BCAT2, BCKDHA, or GPT2 in IDHWT GBM cells. Mechanistically, loss …
BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA.
Zhou F, Sheng C, Ma X, Li T, Ming X, Wang S, Tan J, Yang Y, Sun H, Lu J, Liu J, Deng R, Wang X, Zhou L. Zhou F, et al. Cell Death Dis. 2024 Oct 10;15(10):736. doi: 10.1038/s41419-024-07071-0. Cell Death Dis. 2024. PMID: 39389936 Free PMC article.
The rate limiting enzyme of BCAA catabolism branched-chain alpha-ketoacid dehydrogenase (BCKDH) is phosphorylated at E1alpha subunit (BCKDHA) by its kinase (BCKDK) and inactivated. Here, the liver-specific BCKDK or BCKDHA knockout mice displayed normal glucose toler …
The rate limiting enzyme of BCAA catabolism branched-chain alpha-ketoacid dehydrogenase (BCKDH) is phosphorylated at E1alpha subunit (BCK …
Impaired branched-chain amino acid (BCAA) catabolism during adipocyte differentiation decreases glycolytic flux.
Green CR, Alaeddine LM, Wessendorf-Rodriguez KA, Turner R, Elmastas M, Hover JD, Murphy AN, Ryden M, Mejhert N, Metallo CM, Wallace M. Green CR, et al. J Biol Chem. 2024 Dec;300(12):108004. doi: 10.1016/j.jbc.2024.108004. Epub 2024 Nov 16. J Biol Chem. 2024. PMID: 39551140 Free PMC article.
While lipid droplet accumulation is maintained in Bckdha-deficient adipocytes, they display a more fibroblast-like transcriptional signature. ...Decreased glycolytic flux emerges as the most distinct metabolic feature of 3T3-L1 Bckdha-deficient cells, accompanied by …
While lipid droplet accumulation is maintained in Bckdha-deficient adipocytes, they display a more fibroblast-like transcriptional si …
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, Colella P, Lamazière A, Brassier A, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. J Inherit Metab Dis. 2024 Jan;47(1):41-49. doi: 10.1002/jimd.12604. Epub 2023 Mar 15. J Inherit Metab Dis. 2024. PMID: 36880392
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain amino acids and 2-keto acids. ...O …
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chai …
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR, Margutti AVB, Silva WA Jr, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS Jr. Campanholi DRR, et al. Mol Genet Genomic Med. 2021 May;9(5):e1616. doi: 10.1002/mgg3.1616. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955723 Free PMC article.
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: …
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the …
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Wang J, Poskitt LE, Gallagher J, Puffenberger EG, Wynn RM, Shishodia G, Chuang DT, Beever J, Hardin DL, Brigatti KW, Baker WC, Gately R, Bertrand S, Rodrigues A, Benatti HR, Taghian T, Hall E, Prestigiacomo R, Liang J, Chen G, Zhou X, Ren L, Liu N, He R, Su Q, Xie J, Jiang Z, Gruntman A, Gray-Edwards H, Gao G, Strauss KA, Wang D. Wang J, et al. Sci Transl Med. 2025 Feb 26;17(787):eads0539. doi: 10.1126/scitranslmed.ads0539. Epub 2025 Feb 26. Sci Transl Med. 2025. PMID: 40009698
To develop a gene replacement therapy for MSUD, we designed a dual-function recombinant adeno-associated virus serotype 9 (rAAV9) vector to deliver codon-optimized BCKDHA and BCKDHB (rAAV9.hA-BiP-hB) to the liver, muscle, heart, and brain. rAAV9.hA-BiP-hB restored coexpres …
To develop a gene replacement therapy for MSUD, we designed a dual-function recombinant adeno-associated virus serotype 9 (rAAV9) vector to …
Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.
Du R, Chen P, Li M, Zhu Y, He Z, Huang X. Du R, et al. Front Immunol. 2024 Mar 27;15:1360527. doi: 10.3389/fimmu.2024.1360527. eCollection 2024. Front Immunol. 2024. PMID: 38601155 Free PMC article.
ALS mouse models and ALS clinical samples demonstrated consistent expression levels of four mitophagy-related immune infiltration genes (BCKDHA, JTB, KYNU, and GTF2H5) with the results of bioinformatics analysis. CONCLUSION: This study has successfully devised and verified …
ALS mouse models and ALS clinical samples demonstrated consistent expression levels of four mitophagy-related immune infiltration genes ( …
104 results