Article

Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV

2021-03-24

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 loss of function of the lysosomal channel transient receptor potential mucolipin-1 and is associated with an early pro-inflammatory brain phenotype, including increased cytokine expression. We thus hypothesized that peripheral blood cytokines would reflect inflammatory...

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Literature Corpus work: 9f2e0b2b-0b30-5101-a15a-cd324aec0f83
DOI: 10.1101/2021.03.16.21252395

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