The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease-Reference-Cited by-同舟云学术

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The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

Published:2021-07-31 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yang Juan¹,Ding Xiaoting¹,Meng Shasha¹,Cai Jinhua²,Zhou Weihui¹^ORCID

Affiliation:

1. Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children’s Hospital of Chongqing Medical University Chongqing China

2. Department of Radiology of Children’s Hospital of Chongqing Medical University Chongqing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1777

Reference28 articles.

1. Crystal structures of native and inhibited forms of human cathepsin D: implications for lysosomal targeting and drug design.

2. Cathepsin D—Many functions of one aspartic protease

3. Cell Death Independent of Caspases: A Review

4. Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties

5. Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

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