X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

BR Turk, C Theda, A Fatemi… - International Journal of …, 2020 - Wiley Online Library
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 …

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

M Engelen, S Kemp, M De Visser, BM van Geel… - Orphanet journal of rare …, 2012 - Springer
Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder.
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …

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 …

Neuron-oligodendrocyte interactions in the structure and integrity of axons

GJ Duncan, TJ Simkins, B Emery - Frontiers in Cell and …, 2021 - frontiersin.org
The myelination of axons by oligodendrocytes is a highly complex cell-to-cell interaction.
Oligodendrocytes and axons have a reciprocal signaling relationship in which …

The peroxisome: an update on mysteries 2.0

M Islinger, A Voelkl, HD Fahimi, M Schrader - Histochemistry and cell …, 2018 - Springer
Peroxisomes are key metabolic organelles, which contribute to cellular lipid metabolism, eg
the β-oxidation of fatty acids and the synthesis of myelin sheath lipids, as well as cellular …

[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 …

Peroxisome-mitochondria interplay and disease

M Schrader, J Costello, LF Godinho… - Journal of inherited …, 2015 - Springer
Peroxisomes and mitochondria are ubiquitous, highly dynamic organelles with an oxidative
type of metabolism in eukaryotic cells. Over the years, substantial evidence has been …

Peroxisomes in immune response and inflammation

F Di Cara, P Andreoletti, D Trompier, A Vejux… - International journal of …, 2019 - mdpi.com
The immune response is essential to protect organisms from infection and an altered self. An
organism's overall metabolic status is now recognized as an important and long-overlooked …

Reactive oxygen species and peroxisomes: struggling for balance

NA Bonekamp, A Völkl, HD Fahimi, M Schrader - Biofactors, 2009 - Wiley Online Library
Reactive oxygen species (ROS) can surely be considered as multifunctional biofactors
within the cell. They are known to participate in regular cell functions, for example, as signal …

Myelin proteomics: molecular anatomy of an insulating sheath

O Jahn, S Tenzer, HB Werner - Molecular neurobiology, 2009 - Springer
Fast-transmitting vertebrate axons are electrically insulated with multiple layers of
nonconductive plasma membrane of glial cell origin, termed myelin. The myelin membrane …