Alternative splicing in aging and longevity.
Bhadra M, Howell P, Dutta S, Heintz C, Mair WB.
Hum Genet. 2020 Mar. 139(3):357-369. PMID: 31834493
Links
Bibliography
Single-Copy Knock-In Loci for Defined Gene Expression in Caenorhabditis elegans.
Silva-García CG, Lanjuin A, Heintz C, Dutta S, Clark NM, Mair WB.
G3 (Bethesda). 2019 07 09. 9(7):2195-2198. PMID: 31064766
Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Heintz C, Doktor TK, Lanjuin A, Escoubas CC, Zhang Y, Weir HJ, Dutta S, Silva-García CG, Bruun GH, Morantte I, Hoxhaj G, Manning BD, Andresen BS, Mair WB.
Nature. 2017 07 27. 547(7664):476. PMID: 28700577
Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Heintz C, Doktor TK, Lanjuin A, Escoubas C, Zhang Y, Weir HJ, Dutta S, Silva-García CG, Bruun GH, Morantte I, Hoxhaj G, Manning BD, Andresen BS, Mair WB.
Nature. 2017 01 05. 541(7635):102-106. PMID: 27919065
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N.
Mol Genet Metab. 2016 Mar. 117(3):328-35. PMID: 26803807
You are what you host: microbiome modulation of the aging process.
Heintz C, Mair W.
Cell. 2014 Jan 30. 156(3):408-11. PMID: 24485451
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Heintz C, Cotton RG, Blau N.
Hum Mutat. 2013 Jul. 34(7):927-36. PMID: 23559577
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS.
Mol Genet Metab. 2012 Aug. 106(4):403-11. PMID: 22698810
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Heintz C, Troxler H, Martinez A, Thöny B, Blau N.
Mol Genet Metab. 2012 Apr. 105(4):559-65. PMID: 22300847
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.
Mol Genet Metab. 2011 Feb. 102(2):116-21. PMID: 21147011