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Journal Abstract Search

327 related items for PubMed ID: 26740382

  • 1. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
    Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A.
    Mol Genet Metab; 2016 Mar; 117(3):355-362. PubMed ID: 26740382
    [Abstract] [Full Text] [Related]

  • 2. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR.
    Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
    [Abstract] [Full Text] [Related]

  • 3. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
    Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.
    J Inherit Metab Dis; 2018 Mar; 41(2):157-168. PubMed ID: 29159707
    [Abstract] [Full Text] [Related]

  • 4. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
    Yang Q, Xu H, Luo J, Li M, Yi S, Zhang Q, Geng G, Feng S, Fan X.
    BMC Med Genet; 2020 Apr 06; 21(1):72. PubMed ID: 32252659
    [Abstract] [Full Text] [Related]

  • 5. [Gene mutation analysis in patients with propionic acidemia].
    Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Jun 06; 46(6):416-20. PubMed ID: 19099776
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  • 6. Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
    Jiang L, Park JS, Yin L, Laureano R, Jacquinet E, Yang J, Liang S, Frassetto A, Zhuo J, Yan X, Zhu X, Fortucci S, Hoar K, Mihai C, Tunkey C, Presnyak V, Benenato KE, Lukacs CM, Martini PGV, Guey LT.
    Nat Commun; 2020 Oct 21; 11(1):5339. PubMed ID: 33087718
    [Abstract] [Full Text] [Related]

  • 7. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
    Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb 21; 32(1):26-30. PubMed ID: 25636094
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  • 8. Propionyl-CoA carboxylase - A review.
    Wongkittichote P, Ah Mew N, Chapman KA.
    Mol Genet Metab; 2017 Dec 21; 122(4):145-152. PubMed ID: 29033250
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  • 10. Pathophysiological mechanisms of complications associated with propionic acidemia.
    Marchuk H, Wang Y, Ladd ZA, Chen X, Zhang GF.
    Pharmacol Ther; 2023 Sep 21; 249():108501. PubMed ID: 37482098
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  • 11. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
    Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT.
    Biochem Genet; 2014 Oct 21; 52(9-10):415-29. PubMed ID: 24863100
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  • 14. Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.
    He W, Marchuk H, Koeberl D, Kasumov T, Chen X, Zhang GF.
    Commun Biol; 2024 May 29; 7(1):659. PubMed ID: 38811689
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  • 17. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
    Tian Y, Wang G, Shi W, Bai X.
    BMC Pregnancy Childbirth; 2020 Nov 12; 20(1):689. PubMed ID: 33183246
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  • 18. Anaplerotic therapy in propionic acidemia.
    Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M.
    Mol Genet Metab; 2017 Sep 12; 122(1-2):51-59. PubMed ID: 28712602
    [Abstract] [Full Text] [Related]

  • 19. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
    Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.
    Genet Test Mol Biomarkers; 2016 Jul 12; 20(7):373-82. PubMed ID: 27227689
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  • 20. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
    Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.
    World J Pediatr; 2014 Feb 12; 10(1):64-8. PubMed ID: 24464666
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