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Year Number of Results
2016 3
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51 results

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Page 1
GRSF1 Protects Against Heart Failure by Maintaining BCAA Homeostasis.
Wang H, Wang J, Zhu M, Jin L, Cui H, Liu C, Fan C, Li H, Yang J, Cui M, Song J, Wang W, Xu M. Wang H, et al. Circulation. 2026 Mar 10;153(10):736-753. doi: 10.1161/CIRCULATIONAHA.125.074700. Epub 2026 Jan 5. Circulation. 2026. PMID: 41487100 Free PMC article.
BACKGROUND: Imbalances in cardiac branched-chain amino acid (BCAA) metabolism and mitochondrial homeostasis are implicated in the onset and development of heart failure. ...To elucidate the mechanisms underlying GRSF1-mediated metabolic regulation, we employe …
BACKGROUND: Imbalances in cardiac branched-chain amino acid (BCAA) metabolism and mitochondrial homeostasis are implica …
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 …
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched …
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
Classic maple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-chain alpha-ketoacid dehydrogenase E1alpha (BCKDHA), E1beta (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT) subuni …
Classic maple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-chain alpha-ketoac …
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F. Jiang HH, et al. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187135 Review.
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. ...Suspected patients should have blood or urine branched-chain amino …
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cas …
Effect of sevoflurane anesthesia to neonatal rat hippocampus by RNA-seq.
Feng J, Zhang X, Jiang M, Dai X, Li G, Liu Z. Feng J, et al. Neurosci Lett. 2023 Mar 28;801:137141. doi: 10.1016/j.neulet.2023.137141. Epub 2023 Feb 21. Neurosci Lett. 2023. PMID: 36813076
Bckdhb was significantly up-regulated in the hippocampus with sevoflurane-treated. Pathway analysis revealed several abundant pathways related to DEGs, e.g., protein digestion and absorption and PI3K-Akt signaling pathway. A series of cellular and animal experiments showed …
Bckdhb was significantly up-regulated in the hippocampus with sevoflurane-treated. Pathway analysis revealed several abundant pathway …
Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.
Zhang H, Wan Z, Li X, Wang B, Guan J, Li Y, Jin X, Ma X, Liu G. Zhang H, et al. Stem Cell Res Ther. 2025 Sep 26;16(1):512. doi: 10.1186/s13287-025-04630-w. Stem Cell Res Ther. 2025. PMID: 41013826 Free PMC article.
BACKGROUND: Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by a deficiency in the activity of the hepatic branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, which leads to the toxic accumulation of three branched- …
BACKGROUND: Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by a deficiency in the activity of the hepatic bra …
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain alpha-keto acid dehydrogenase (BCKDH) complex genes (BCKDHA, BCKDHB, DBT, DLD, and PPM1K) leading to the accumulation of leucine, isoleucine …
Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain alpha-keto acid …
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh M, Tafazoli A, Aarabi A, Moghaddassian M, Ashrafzadeh F, Houshmand M, Taghehchian N, Abbaszadegan MR. Zeynalzadeh M, et al. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):205-212. doi: 10.1515/jpem-2017-0305. J Pediatr Endocrinol Metab. 2018. PMID: 29306928
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MS …
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched- …
Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
Yang J, Xiu J, Sun Y, Liu F, Shang X, Li G. Yang J, et al. J Pediatr Endocrinol Metab. 2021 Dec 10;35(3):303-312. doi: 10.1515/jpem-2021-0672. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34883003
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched-chain alpha-ketoacid dehydrogenase complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. ...Se …
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched- …
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Kılıç M, Sayar E, İcil S, Doğan S, Gökçe-Altaş G, Koşukcu C, Bakır A, Sezer A. Kılıç M, et al. Am J Med Genet A. 2025 Jul;197(7):e64037. doi: 10.1002/ajmg.a.64037. Epub 2025 Mar 6. Am J Med Genet A. 2025. PMID: 40047138
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino acids (BCAAs). The genes BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain alpha-ketoacid dehydro …
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino ac …
51 results