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 …
[HTML][HTML] The advanced lipoxidation end-product malondialdehyde-lysine in aging and longevity
M Jové, N Mota-Martorell, I Pradas, M Martín-Gari… - Antioxidants, 2020 - mdpi.com
The nonenzymatic adduction of malondialdehyde (MDA) to the protein amino groups leads
to the formation of malondialdehyde-lysine (MDALys). The degree of unsaturation of …
to the formation of malondialdehyde-lysine (MDALys). The degree of unsaturation of …
[HTML][HTML] Enhanced axonal response of mitochondria to demyelination offers neuroprotection: implications for multiple sclerosis
S Licht-Mayer, GR Campbell, M Canizares… - Acta …, 2020 - Springer
Axonal loss is the key pathological substrate of neurological disability in demyelinating
disorders, including multiple sclerosis (MS). However, the consequences of demyelination …
disorders, including multiple sclerosis (MS). However, the consequences of demyelination …
The changing face of adrenoleukodystrophy
J Zhu, F Eichler, A Biffi, CN Duncan… - Endocrine …, 2020 - academic.oup.com
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy
Adrenoleukodystrophy is a neurometabolic disorder caused by a defective peroxisomal
ABCD1 transporter of very long-chain fatty acids (VLCFAs). Its pathogenesis is incompletely …
ABCD1 transporter of very long-chain fatty acids (VLCFAs). Its pathogenesis is incompletely …
High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy
Biotin is an essential cofactor for carboxylases that regulates the energy metabolism.
Recently, high‐dose pharmaceutical‐grade biotin (MD1003) was shown to improve clinical …
Recently, high‐dose pharmaceutical‐grade biotin (MD1003) was shown to improve clinical …
[PDF][PDF] Pharmacological complementation remedies an inborn error of lipid metabolism
MD Hartley, MD Shokat, MJ DeBell, T Banerji… - Cell chemical …, 2020 - cell.com
Summary X-linked adrenoleukodystrophy (X-ALD) is a rare, genetic disease in which
increased very long chain fatty acids (VLCFAs) in the central nervous system (CNS) cause …
increased very long chain fatty acids (VLCFAs) in the central nervous system (CNS) cause …
[PDF][PDF] The advanced lipoxidation end-product malondialdehyde-lysine in aging and longevity
M Jové Font, N Mota Martorell, I Pradas Barriga… - 2020 - repositori.udl.cat
The nonenzymatic adduction of malondialdehyde (MDA) to the protein amino groups leads
to the formation of malondialdehyde-lysine (MDALys). The degree of unsaturation of …
to the formation of malondialdehyde-lysine (MDALys). The degree of unsaturation of …
Successful Correction of ALD Patient-derived iPSCs Using CRISPR/Cas9
ES Jung, Z Quan, MY Chang, W Hong, JH Kim, SH Kim… - bioRxiv, 2020 - biorxiv.org
X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common
inherited peroxisomal disease. It is characterized by three phenotypes: inflammatory …
inherited peroxisomal disease. It is characterized by three phenotypes: inflammatory …