Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship-Reference-Cited by-同舟云学术

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Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

Published:2009-03-23 Issue:5 Volume:30 Page:E651-E661
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lebrun Anne-Hélène,Storch Stephan,Rüschendorf Franz,Schmiedt Mia-Lisa,Kyttälä Aija,Mole Sara E.,Kitzmüller Claudia,Saar Kathrin,Mewasingh Leena D.,Boda Volker,Kohlschütter Alfried,Ullrich Kurt,Braulke Thomas,Schulz Angela

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 43 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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3. KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses;Science Advances;2022-08-05

4. Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis;Developmental Neurobiology;2022-04-28

5. Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis;Experimental Eye Research;2021-09

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