Article

Plasma Proteomic Signature of Mucolipidosis Type IV

2024-07-29

Abstract excerpt

Mucolipidosis IV (MLIV) is an autosomal-recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by the loss of function of the lysosomal channel transient receptor potential mucolipin-1, TRPML1, and is associated with an early brain phenotype consisting of glial reactivity, hypomyelination, lysosomal abnormalities, and increased cytokine expression. Although the fiel...

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Literature Corpus work: cebf3c06-1004-5709-84b6-d9be82813d50
DOI: 10.1101/2024.07.29.24311030

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