Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism-Reference-Cited by-同舟云学术

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Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism

Published:2020-09 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Guo Liyuan¹²,Jin Bo³,Zhang Yidan¹²,Wang Jing¹²^ORCID

Affiliation:

1. CAS Key Laboratory of Mental Health Institute of Psychology Chinese Academy of Sciences Beijing China

2. Department of Psychology University of Chinese Academy of Sciences Beijing China

3. Department of Neurology Children's Hospital of Nanjing Medical University Nanjing Jiangsu China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1478

Reference30 articles.

1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current PROTOCOLS in Human Genetics,2013

2. Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

3. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

4. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

5. Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

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1. Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy;Advances in Protein Chemistry and Structural Biology;2024

2. A model of metformin mitochondrial metabolism in metachromatic leukodystrophy: first description of human Schwann cells transfected with CRISPR-Cas9;Open Biology;2022-07

3. Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency;Current Medicinal Chemistry;2022-01

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