Publications:

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Cellular And Molecular Life Sciences : Cmls

Basak, I I; Wicky, H E HE; McDonald, K O KO; Xu, J B JB; Palmer, J E JE; Best, H L HL; Lefrancois, S S; Lee, S Y SY; Schoderboeck, L L; Hughes, S M SM

Publication Date: 2021-05

Variant appearance in text: CLN5: Q232*

PubMed Link: 33792748

Variant Present in the following documents:

• Main text
• 18_2021_Article_3813.pdf

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Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Frontiers In Genetics

Luo, Sukun S; Bi, Bo B; Zhu, Baiqi B; Tan, Li L; Zhao, Peiwei P; Huang, Yufeng Y; Wu, Gefei G; Zhou, Aifeng A; He, Xuelian X

Publication Date: 2020

Variant appearance in text: CLN5: 694C>T; Gln232*

PubMed Link: 32983231

Variant Present in the following documents:

• Main text
• fgene-11-536221.pdf

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Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease.

Scientific Reports

Adams, Jessie J; Feuerborn, Melissa M; Molina, Joshua A JA; Wilden, Alexa R AR; Adhikari, Babita B; Budden, Theodore T; Lee, Stella Y SY

Publication Date: 2019-01-17

Variant appearance in text: CLN5: 694C>T

PubMed Link: 30655561

Variant Present in the following documents:

• Main text
• 41598_2018_Article_36379.pdf

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Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

Experimental Cell Research

De Silva, Bhagya B; Adams, Jessie J; Lee, Stella Y SY

Publication Date: 2015-10-15

Variant appearance in text: CLN5: 694C>T; Gln232X

PubMed Link: 26342652

Variant Present in the following documents:

• Main text

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