X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies
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 …
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
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 …
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 …
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
Neuron-oligodendrocyte interactions in the structure and integrity of axons
The myelination of axons by oligodendrocytes is a highly complex cell-to-cell interaction.
Oligodendrocytes and axons have a reciprocal signaling relationship in which …
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 …
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 …
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
Peroxisome-mitochondria interplay and disease
Peroxisomes and mitochondria are ubiquitous, highly dynamic organelles with an oxidative
type of metabolism in eukaryotic cells. Over the years, substantial evidence has been …
type of metabolism in eukaryotic cells. Over the years, substantial evidence has been …
Peroxisomes in immune response and inflammation
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 …
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 …
within the cell. They are known to participate in regular cell functions, for example, as signal …
Myelin proteomics: molecular anatomy of an insulating sheath
Fast-transmitting vertebrate axons are electrically insulated with multiple layers of
nonconductive plasma membrane of glial cell origin, termed myelin. The myelin membrane …
nonconductive plasma membrane of glial cell origin, termed myelin. The myelin membrane …