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Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

  • Published:2019-11 Issue:3 Volume:128 Page:320-331
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Yasuda Makiko,Chen Brenden,Desnick Robert J.

Funder

Department of Genetics and Genomic Sciences

Icahn School of Medicine at Mount Sinai

NIH

NCATS Rare Diseases Clinical Research Network

National Institutes of Health

Office of Rare Diseases Research

NCATS

NIDDK

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference84 articles.

1. Porphyrias;Puy;Lancet,2010

2. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias;Anderson,2001

3. Human hydroxymethylbilane synthase: molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP;Bung;Proc. Natl. Acad. Sci. U. S. A.,2018

4. Structure of the mitochondrial aminolevulinic acid synthase, a key heme biosynthetic enzyme;Brown;Structure,2018

5. Crystal structure of human uroporphyrinogen decarboxylase;Whitby;EMBO J.,1998

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