Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.E253*
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CLN5

NM_006493.4:p.E253*

Associated Papers

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

Basak I et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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

Luo S et al.

Frontiers in Genetics, 2020

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

Larkin H et al.

Human Mutation, 2013

The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

Moharir A et al.

Plos One, 2013

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Schmiedt ML et al.

Human Mutation, 2010

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O et al.

Human Molecular Genetics, 2004

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

Vesa J et al.

Molecular Biology of the Cell, 2002

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

Holmberg V et al.

Neurology, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."