Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate-Reference-Cited by-同舟云学术

Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate

Published:2019-08 Issue:35 Volume:294 Page:13051-13060
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Macias Iratxe,Laín Ana^ORCID,Bernardo-Seisdedos Ganeko^ORCID,Gil David^ORCID,Gonzalez Esperanza,Falcon-Perez Juan M.^ORCID,Millet Oscar^ORCID

Funder

MEC | Agencia Estatal de Investigación (AEI)

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference36 articles.

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3. Screening for tyrosinaemia type I;Hutchesson;Arch. Dis. Child Fetal. Neonatal Ed,1996

4. Molecular pathogenesis of liver injury in hereditary tyrosinemia 1;Tanguay;Adv. Exp. Med. Biol,2017

5. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient;Cao;Chin. Med. J. (Engl.),2012

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