Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

• Main Authors: Manshadi, Masoumeh Dehghan, Kamalidehghan, Behnam, Aryani, Omid, Khalili, Elham, Dadgar, Sepideh, Tondar, Mahdi, Ahmadipour, Fatemeh, Goh, Yong Meng, Houshmand, Massoud
• Format: Article
• Language: English
• Published: Dove Medical Press 2017
• Online Access: http://psasir.upm.edu.my/id/eprint/61916/1/Four%20novel%20ARSA%20gene%20mutations%20with%20pathogenic.pdf; http://psasir.upm.edu.my/id/eprint/61916/; https://www.dovepress.com/four-novel-arsa-gene-mutations-with-pathogenic-impacts-on-metachromati-peer-reviewed-article-TCRM
• Institution: Universiti Putra Malaysia

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the...