An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene-Reference-Cited by-同舟云学术

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An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

Published:2013-04-05 Issue:2 Volume:50 Page:284-290
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Galla Daniela,de Gemmis Paola,Anesi Laura,Berto Silvia,Dolcetta Diego,Hladnik Uroš

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-013-0006-8.pdf

Reference36 articles.

1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249

2. Ashkenazy H, Erez E, Martz E, Pupko T, Ben-Tal N (2010) ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res 38 (Web Server issue): W529-33

3. Barth ML, Fensom A, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6(2):170–176

4. Bellesia G, Shea JE (2009) What determines the structure and stability of KFFE monomers, dimers, and protofibrils? Biophys J 96(3):875–886

5. Biffi A, Cesani M, Fumagalli F et al (2008) Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet 74(4):349–357

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2. 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

3. Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix;Genome Biology;2023-07-21

4. Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism;Molecular Genetics & Genomic Medicine;2020-09

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