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Article

Altered protein secretion in Batten disease.

Disease models & mechanisms - 1 Dec 2021

Huber Robert J

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 different subtypes of NCL, each caused by a mutation in a distinct gene. The NCLs are characterized by the accumulation of undigestible lipids and proteins in various cell types. This leads to progressive neurodegeneration and clinical...

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PMID: 34870700
DOI: 10.1242/dmm.049152
PMCID: PMC8669491

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