Metachromatic leukodystrophy: diagnosis, modeling, and treatment approaches

AA Shaimardanova, DS Chulpanova… - Frontiers in …, 2020 - frontiersin.org
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by
damage of the myelin sheath that covers most of nerve fibers of the central and peripheral …

A comprehensive review on structural and therapeutical insight of Cerebroside sulfotransferase (CST)-An important target for development of substrate reduction …

N Singh, AK Singh - International Journal of Biological Macromolecules, 2024 - Elsevier
This review is an effort towards the development of substrate reduction therapy using
cerebroside sulfotransferase (CST) as a target protein for the development of inhibitors …

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

M Trinidad, X Hong, S Froelich, J Daiker, J Sacco… - Genome Biology, 2023 - Springer
Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused
by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes …

Current understanding on the genetic basis of key metabolic disorders: a review

KF Rodrigues, WTL Yong, MSA Bhuiyan, S Siddiquee… - Biology, 2022 - mdpi.com
Simple Summary Metabolic disorders (MD) are a challenge to healthcare systems; the
emergence of the modern socio-economic system has led to a profound change in lifestyles …

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

S Beerepoot, SJM van Dooren, GS Salomons… - neurogenetics, 2020 - Springer
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage
disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA). Genetic …

Arylsulfatases A and B: From normal tissues to malignant tumors

Z Kovacs, I Jung, S Gurzu - Pathology-Research and Practice, 2019 - Elsevier
Arylsulfatases are lysosomal enzymes with important roles in the cell metabolism. Several
subtypes of arylsulfatase are known, from A to K. Congenital deficiencies of arylsulfatases …

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational …

K Amr, E Fateen, L Mansour, AMS Tosson… - Journal of Molecular …, 2021 - Springer
Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder characterized by
progressive demyelination due to deficiency of the enzyme arylsulfatase A (ARSA) in …

Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy

NM Priya, NS Kumar, SU Kumar… - Advances in …, 2024 - pubmed.ncbi.nlm.nih.gov
The arylsulfatase A (ARSA) gene is observed to be deficient in patients with metachromatic
leukodystrophy (MLD), a type of lysosomal storage disease. MLD is a severe …

[PDF][PDF] Metachromatic leukodystrophy: diagnosis and treatment challenges

NT Sanchez-Alvarez, PK Bautista-Niño… - …, 2021 - revistabionatura.com
Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a
significant impact given the implications for the neurodegenerative deterioration of the …

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

JN Cochran, EC McKinley, M Cochran, MD Amaral… - bioRxiv, 2019 - biorxiv.org
We assessed the utility of genome sequencing for early-onset dementia. Participants were
selected from a memory disorders clinic. Genome sequencing was performed along with …