PKAN pathogenesis and treatment

Research output: Contribution to journalReview articlepeer-review

Abstract

Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

Original languageEnglish (US)
Pages (from-to)283-291
Number of pages9
JournalMolecular Genetics and Metabolism
Volume137
Issue number3
DOIs
StatePublished - Nov 2022

Keywords

  • Brain iron
  • Coenzyme A
  • Mitochondrial acyl carrier protein
  • PKAN
  • Pantothenate kinase
  • Phosphopantetheinylation

ASJC Scopus subject areas

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

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