[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 …
between neurons within the nervous system and between neurons and peripheral target …
[HTML][HTML] Ceramide signalling in inherited and multifactorial brain metabolic diseases
In recent years, research on sphingolipids, particularly ceramides, has attracted increased
attention, revealing the important roles and many functions of these molecules in several …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
pathogenesis of the most prevalent neurodegenerative disorders, such as Alzheimer's …