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Page 1
Showing results for amino fh
Search for Amido FH instead (1 results)
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Hobbs HH, Brown MS, Goldstein JL. Hobbs HH, et al. Hum Mutat. 1992;1(6):445-66. doi: 10.1002/humu.1380010602. Hum Mutat. 1992. PMID: 1301956 Review.
Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. ...In this report, we describe 79 additional mutation …
Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individual …
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD, Giacobbe C, Palma D, Iannuzzo G, Gentile M, Calcaterra I, Guardamagna O, Auricchio R, Di Minno MND, Fortunato G. Di Taranto MD, et al. Clin Genet. 2021 Nov;100(5):529-541. doi: 10.1111/cge.14036. Epub 2021 Aug 3. Clin Genet. 2021. PMID: 34297352 Free PMC article.
The frequency of pathogenic variants gradually increased from unlikely FH to definite FH, according to the Dutch Lipid Clinic Network criteria. ...Clinical suspicion of FH should be considered even if few symptoms are present or if LDL-cholesterol is only mil …
The frequency of pathogenic variants gradually increased from unlikely FH to definite FH, according to the Dutch Lipid Clinic …
Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.
Li P, Wu Y, Wu H, Xiong Q, Zhao N, Chen G, Wu C, Xiao H. Li P, et al. Int J Mol Sci. 2022 Jan 27;23(3):1452. doi: 10.3390/ijms23031452. Int J Mol Sci. 2022. PMID: 35163394 Free PMC article.
However, how FH mutations result in this disease is poorly understood. Here, the FH mutation c.557G>A (p.S186N) was identified in a family with uterine leiomyomas phenotype. ...Interestingly, the immunofluorescence study revealed that the overexpressed FH
However, how FH mutations result in this disease is poorly understood. Here, the FH mutation c.557G>A (p.S186N) was identif …
A swapped genetic code prevents viral infections and gene transfer.
Nyerges A, Vinke S, Flynn R, Owen SV, Rand EA, Budnik B, Keen E, Narasimhan K, Marchand JA, Baas-Thomas M, Liu M, Chen K, Chiappino-Pepe A, Hu F, Baym M, Church GM. Nyerges A, et al. Nature. 2023 Mar;615(7953):720-727. doi: 10.1038/s41586-023-05824-z. Epub 2023 Mar 15. Nature. 2023. PMID: 36922599 Free PMC article.
We then establish a genetic firewall by discovering viral tRNAs that provide exceptionally efficient codon reassignment allowing us to develop cells bearing an amino acid-swapped genetic code that reassigns two of the six serine codons to leucine during translation. This …
We then establish a genetic firewall by discovering viral tRNAs that provide exceptionally efficient codon reassignment allowing us to devel …
Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism.
Ryan DG, Yang M, Prag HA, Blanco GR, Nikitopoulou E, Segarra-Mondejar M, Powell CA, Young T, Burger N, Miljkovic JL, Minczuk M, Murphy MP, von Kriegsheim A, Frezza C. Ryan DG, et al. Elife. 2021 Dec 23;10:e72593. doi: 10.7554/eLife.72593. Elife. 2021. PMID: 34939929 Free PMC article.
Our comparative approach shows that TCAi elicits a convergent rewiring of redox and amino acid metabolism dependent on the activation of ATF4 and the integrated stress response (ISR). ...Our work highlights an important interplay between the TCA cycle, redox biology, and …
Our comparative approach shows that TCAi elicits a convergent rewiring of redox and amino acid metabolism dependent on the activation …
Tryptophan Synthase: Biocatalyst Extraordinaire.
Watkins-Dulaney E, Straathof S, Arnold F. Watkins-Dulaney E, et al. Chembiochem. 2021 Jan 5;22(1):5-16. doi: 10.1002/cbic.202000379. Epub 2020 Sep 22. Chembiochem. 2021. PMID: 32677310 Free PMC article. Review.
Tryptophan synthase (TrpS) has emerged as a paragon of noncanonical amino acid (ncAA) synthesis and is an ideal biocatalyst for synthetic and biological applications. ...
Tryptophan synthase (TrpS) has emerged as a paragon of noncanonical amino acid (ncAA) synthesis and is an ideal biocatalyst for synth …
Customizing amino acid metabolism of Pichia pastoris for recombinant protein production.
Rußmayer H, Buchetics M, Mattanovich M, Neubauer S, Steiger M, Graf AB, Koellensperger G, Hann S, Sauer M, Gasser B, Mattanovich D. Rußmayer H, et al. Biotechnol J. 2023 Dec;18(12):e2300033. doi: 10.1002/biot.202300033. Epub 2023 Sep 13. Biotechnol J. 2023. PMID: 37668396
Amino acids are the building blocks of proteins. In this respect, a reciprocal effect of recombinant protein production on amino acid biosynthesis as well as the impact of the availability of free amino acids on protein production can be anticipated. ...In ad
Amino acids are the building blocks of proteins. In this respect, a reciprocal effect of recombinant protein production on amino
Functional anatomy of complement factor H.
Makou E, Herbert AP, Barlow PN. Makou E, et al. Biochemistry. 2013 Jun 11;52(23):3949-62. doi: 10.1021/bi4003452. Epub 2013 May 31. Biochemistry. 2013. PMID: 23701234 Review.
Although FH consists of a single chain of similar protein modules, it has a demanding job description. ...Moreover, deletions or variations of genes for FH-related proteins also influence the risk of disease. Numerous pathogens hijack FH and use it for self-d …
Although FH consists of a single chain of similar protein modules, it has a demanding job description. ...Moreover, deletions or vari …
Recombinant generation of two fragments of the rat complement inhibitory factor H [FH(SCR1-7) and FH(SCR1-4)] and their structural and functional characterization in comparison to FH isolated from rat serum.
Demberg T, Heine I, Götze O, Altermann WW, Seliger B, Schlaf G. Demberg T, et al. Histol Histopathol. 2006 Jan;21(1):93-102. doi: 10.14670/HH-21.93. Histol Histopathol. 2006. PMID: 16267790 Review.
Factor H (FH) is the predominant soluble inhibitor of the complement system. ...Analyses of the glycosylation patterns using PAS-staining showed a lack of staining of the recombinant variants (SCR1-4 and SCR1-7) in contrast to FH(SCR1-20) from serum. Using a complem …
Factor H (FH) is the predominant soluble inhibitor of the complement system. ...Analyses of the glycosylation patterns using PAS-stai …
FH proteins as cytoskeletal organizers.
Wasserman S. Wasserman S. Trends Cell Biol. 1998 Mar;8(3):111-5. doi: 10.1016/s0962-8924(97)01217-8. Trends Cell Biol. 1998. PMID: 9695820 Review.
Regulation of cell shape is a poorly understood yet central issue in cell biology. Recent experiments indicate that FH proteins link cellular signalling pathways to changes in cell shape. Members of the FH protein family play essential roles in cytokinesis and in dr …
Regulation of cell shape is a poorly understood yet central issue in cell biology. Recent experiments indicate that FH proteins link …
781 results