[HTML][HTML] The axon-myelin unit in development and degenerative disease

RM Stassart, W Möbius, KA Nave… - Frontiers in …, 2018 - frontiersin.org
Axons are electrically excitable, cable-like neuronal processes that relay information
between neurons within the nervous system and between neurons and peripheral target …

[HTML][HTML] Ceramide signalling in inherited and multifactorial brain metabolic diseases

DC Pant, S Aguilera-Albesa, A Pujol - Neurobiology of disease, 2020 - Elsevier
In recent years, research on sphingolipids, particularly ceramides, has attracted increased
attention, revealing the important roles and many functions of these molecules in several …

[HTML][HTML] Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

DC Pant, I Dorboz, A Schluter… - The Journal of …, 2019 - Am Soc Clin Investig
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the
myelin sheath. We have used whole-exome sequencing in patients with undetermined …

[HTML][HTML] Disease progression in women with X-linked adrenoleukodystrophy is slow

IC Huffnagel, MGW Dijkgraaf, GE Janssens… - Orphanet Journal of …, 2019 - Springer
Background Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal
cord disease in adulthood for which treatment is supportive only. For future clinical trials …

Risk profiling using metabolomic characteristics for susceptible individuals of drug-induced liver injury caused by Polygonum multiflorum

LE Zhang, M Niu, A Wei, J Tang, C Tu, Z Bai, Z Zou… - Archives of …, 2020 - Springer
Idiosyncratic drug-induced liver injury (IDILI) is a rare but potentially severe adverse drug
reaction. To date, identifying individuals at risk for IDILI remains challenging. This is a …

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy

I Weinhofer, B Zierfuss, S Hametner, M Wagner… - Brain, 2018 - academic.oup.com
X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1)
mutations and manifests by default as slowly progressive spinal cord axonopathy with …

[HTML][HTML] Biomarker identification, safety, and efficacy of high-dose antioxidants for adrenomyeloneuropathy: a phase II pilot study

C Casasnovas, M Ruiz, A Schlüter, A Naudí… - …, 2019 - Springer
Abstract X-Adrenoleukodystrophy (X-ALD) and its adult-onset, most prevalent variant
adrenomyeloneuropathy (AMN) are caused by mutations in the peroxisomal transporter of …

Aberrant regulation of the GSK‐3β/NRF 2 axis unveils a novel therapy for adrenoleukodystrophy

P Ranea‐Robles, N Launay, M Ruiz… - EMBO molecular …, 2018 - embopress.org
The nuclear factor erythroid 2‐like 2 (NRF 2) is the master regulator of endogenous
antioxidant responses. Oxidative damage is a shared and early‐appearing feature in X …

[HTML][HTML] A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism

A Hertzog, A Selvanathan, B Devanapalli… - Translational …, 2022 - ncbi.nlm.nih.gov
Methods Data for this review was identified through a literature search using PubMed,
Google Scholar, and personal repositories of articles collected by the authors. Findings are …

[HTML][HTML] Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

N Launay, M Ruiz, L Grau, FJ Ortega, EV Ilieva… - Acta …, 2017 - Springer
The activation of the highly conserved unfolded protein response (UPR) is prominent in the
pathogenesis of the most prevalent neurodegenerative disorders, such as Alzheimer's …