Ontology highlight
ABSTRACT:
SUBMITTER: Turk BR
PROVIDER: S-EPMC7041623 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Turk Bela R BR Theda Christiane C Fatemi Ali A Moser Ann B AB
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20200126 1
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long-chain fatty acid (VLCFA) chain length-dependent dysregulation of endoplasmic ...[more]