Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by
early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and …

Biotin is an essential cofactor for carboxylases that regulates the energy metabolism.
Recently, high‐dose pharmaceutical‐grade biotin (MD1003) was shown to improve clinical …

Background Iron-sulfur clusters play a central role in cellular function and are regulated by
the ATM protein. Iron-sulfur clusters are part of the cellular sulfide pool, which functions to …

Oxidative stress and mitochondrial failure are prominent factors in the axonal degeneration
process. In this study, we demonstrate that sirtuin 1 (SIRT1), a key regulator of the …

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the
ABCD1 gene encoding a peroxisomal transmembrane protein. It is characterized by the …

X‐linked adrenoleukodystrophy (XALD) is a genetic neurologic disorder with multiple
phenotypic presentations and limited therapeutic options. The childhood cerebral phenotype …

Methotrexate (MTX) is widely used in treatment of cancers and autoimmune diseases.
However, nephrotoxicity is one of its most important side effects. The peroxisome proliferator …

Mice with the hypomorphic AIF-Harlequin mutation exhibit a highly heterogeneous
mitochondriopathy that mostly affects respiratory chain complex I, causing a cerebral …

It is increasingly understood that in the aging brain, especially in the case of patients
suffering from neurodegenerative diseases, some fatty acids at pathologically high …

X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited monogenic
demyelinating disease. It is often lethal and currently lacks a satisfactory therapy. The …