Results 21 to 30 of about 5,681 (206)
Pharmaceutics, 2022 Antisense oligonucleotides (ASOs) are disease-modifying agents affecting protein-coding and noncoding ribonucleic acids. Depending on the chemical modification and the location of hybridization, ASOs are able to reduce the level of toxic proteins ...
Man Amanat +4 more
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Orphanet Journal of Rare Diseases, 2023 Background X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. Childhood Cerebral ALD (CCALD)
Caroline Sevin +7 more
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Glial cells in the driver seat of leukodystrophy pathogenesis
Neurobiology of Disease, 2020 Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases.
Luis M. Garcia +4 more
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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Frontiers in Neurology, 2023 Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy +9 more
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Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets. [PDF]
MedComm (2020)Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Huang L +5 more
europepmc +2 more sources
Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy
Frontiers in Medicine, 2021 Krabbe Disease (KD) is an autosomal metabolic disorder that affects both the central and peripheral nervous systems. It is caused by a functional deficiency of the lysosomal enzyme, galactocerebrosidase (GALC), resulting in an accumulation of the toxic ...
Gibran Nasir +3 more
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Journal of Neurodevelopmental Disorders, 2019 Background The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule.
Amena Smith Fine +3 more
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MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
JIMD Reports, 2022 Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk +7 more
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Emerging Concepts in Vector Development for Glial Gene Therapy: Implications for Leukodystrophies
Frontiers in Cellular Neuroscience, 2021 Central Nervous System (CNS) homeostasis and function rely on intercellular synchronization of metabolic pathways. Developmental and neurochemical imbalances arising from mutations are frequently associated with devastating and often intractable ...
Georg von Jonquieres +2 more
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Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
Children, 2023 Background: There are many different types of Leukodystrophies. Specifically, children with hypomyelination and congenital cataract syndrome (HCC) in addition to motor retardation development, hypotonia and progressive spastic paraplegia, associated with
Rachele Simeon +5 more
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