Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity DOI Creative Commons
Dar‐Shong Lin, Che‐Sheng Ho

Cells, Journal Year: 2024, Volume and Issue: 13(22), P. 1873 - 1873

Published: Nov. 12, 2024

Leukodystrophies represent a heterogeneous group of disorders characterized by specific genetic mutations, metabolic abnormalities, and degeneration white matter in the central nervous system. These are classified into several categories, with X-linked adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy (MLD), globoid cell (GLD) being most prevalent demyelinating leukodystrophies pediatric populations. Maintaining proteostasis, which is critical for normal cellular function, relies fundamentally on ubiquitin-proteasome system (UPS) autophagy degradation misfolded damaged proteins. Compelling evidence has highlighted roles UPS dysfunction pathogenesis neurodegenerative diseases. Given complex poorly understood pathomechanisms underlying leukodystrophies, coupled pressing need effective therapeutic strategies, this review aims to systemically analyze molecular pathological linking specifically X-ALD GLD. Furthermore, we will assess potential modulators management GLD, objective inspire further research approaches that target pathways. Novel therapies enhance function hold promise as complementary regimens combination aimed at achieving comprehensive correction pathogenic mechanisms leukodystrophies.

Language: Английский

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity DOI Creative Commons
Dar‐Shong Lin, Che‐Sheng Ho

Cells, Journal Year: 2024, Volume and Issue: 13(22), P. 1873 - 1873

Published: Nov. 12, 2024

Leukodystrophies represent a heterogeneous group of disorders characterized by specific genetic mutations, metabolic abnormalities, and degeneration white matter in the central nervous system. These are classified into several categories, with X-linked adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy (MLD), globoid cell (GLD) being most prevalent demyelinating leukodystrophies pediatric populations. Maintaining proteostasis, which is critical for normal cellular function, relies fundamentally on ubiquitin-proteasome system (UPS) autophagy degradation misfolded damaged proteins. Compelling evidence has highlighted roles UPS dysfunction pathogenesis neurodegenerative diseases. Given complex poorly understood pathomechanisms underlying leukodystrophies, coupled pressing need effective therapeutic strategies, this review aims to systemically analyze molecular pathological linking specifically X-ALD GLD. Furthermore, we will assess potential modulators management GLD, objective inspire further research approaches that target pathways. Novel therapies enhance function hold promise as complementary regimens combination aimed at achieving comprehensive correction pathogenic mechanisms leukodystrophies.

Language: Английский

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