Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history

S Kemp, IC Huffnagel, GE Linthorst… - Nature Reviews …, 2016 - nature.com
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …

[HTML][HTML] X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects

S Kemp, J Berger, P Aubourg - … Et Biophysica Acta (BBA)-Molecular Basis …, 2012 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

M Engelen, M Barbier, IME Dijkstra, R Schür… - Brain, 2014 - academic.oup.com
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is
caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very …

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

C Wiesinger, FS Eichler, J Berger - The application of clinical …, 2015 - Taylor & Francis
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene
encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence …

[HTML][HTML] Peroxisomal ABC transporters: structure, function and role in disease

M Morita, T Imanaka - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2012 - Elsevier
ATP-binding cassette (ABC) transporters belong to one of the largest families of membrane
proteins, and are present in almost all living organisms from eubacteria to mammals. They …

Seed storage oil catabolism: a story of give and take

FL Theodoulou, PJ Eastmond - Current opinion in plant biology, 2012 - Elsevier
The transition from seed to seedling is an important step in the life cycle of plants, which is
fuelled primarily by the breakdown of triacylglycerol (TAG) in 'oilseed'species. TAG is stored …

The peroxisome: an update on mysteries

M Islinger, S Grille, HD Fahimi, M Schrader - Histochemistry and cell …, 2012 - Springer
Peroxisomes contribute to several crucial metabolic processes such as β-oxidation of fatty
acids, biosynthesis of ether phospholipids and metabolism of reactive oxygen species …

Peroxisomal ABC transporters: an update

A Tawbeh, C Gondcaille, D Trompier… - International Journal of …, 2021 - mdpi.com
ATP-binding cassette (ABC) transporters constitute one of the largest superfamilies of
conserved proteins from bacteria to mammals. In humans, three members of this family are …

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

EJ Mallack, K Gao, M Engelen, S Kemp - Cells, 2022 - mdpi.com
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused
by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding …

Peroxisomal ABC transporters: functions and mechanism

A Baker, DJ Carrier, T Schaedler… - Biochemical Society …, 2015 - portlandpress.com
Peroxisomes are arguably the most biochemically versatile of all eukaryotic organelles.
Their metabolic functions vary between different organisms, between different tissue types of …