Hypomyelinating leukodystrophies—Unravelling myelin biology
NI Wolf, C Ffrench-Constant… - Nature Reviews …, 2021 - nature.com
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …
characterized by a primary lack of myelin deposition. Most patients with severe …
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 CNS myelin proteome: deep profile and persistence after post-mortem delay
Myelin membranes are dominated by lipids while the complexity of their protein composition
has long been considered to be low. However, numerous additional myelin proteins have …
has long been considered to be low. However, numerous additional myelin proteins have …
Breaking down the cellular responses to type I interferon neurotoxicity in the brain
B Viengkhou, MJ Hofer - Frontiers in Immunology, 2023 - frontiersin.org
Since their original discovery, type I interferons (IFN-Is) have been closely associated with
antiviral immune responses. However, their biological functions go far beyond this role, with …
antiviral immune responses. However, their biological functions go far beyond this role, with …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
MR Ashrafi, M Amanat, M Garshasbi… - Expert review of …, 2020 - Taylor & Francis
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …
primarily affecting the white matter of central nervous system. These conditions are often …
Trials for slowly progressive neurogenetic diseases need surrogate endpoints
MM Reilly, DN Herrmann, D Pareyson… - Annals of …, 2023 - Wiley Online Library
Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …
development of novel therapeutic approaches including antisense oligonucleotides, RNA …
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
S Beerepoot, S Nierkens, JJ Boelens… - Orphanet journal of rare …, 2019 - Springer
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …
Metachromatic leukodystrophy and transplantation: Remyelination, no cross‐correction
NI Wolf, M Breur, B Plug, S Beerepoot… - Annals of clinical …, 2020 - Wiley Online Library
Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased
arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain …
arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain …
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
DH Schoenmakers, S Beerepoot… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM)
changes on brain MRI, which often trigger biochemical and genetic confirmation of the …
changes on brain MRI, which often trigger biochemical and genetic confirmation of the …
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients
C Wu, M Wang, X Wang, W Li, S Li, B Chen, S Niu… - Brain, 2023 - academic.oup.com
Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic
disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the …
disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the …