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Article

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

American journal of human genetics - 2 Apr 2020

Dong Xiaomin, Tan Natalie B, Howell Katherine B, Barresi Sabina, Freeman Jeremy L, Vecchio Davide, Piccione Maria, Radio Francesca Clementina, Calame Daniel, Zong Shan, Eggers Stefanie, Scheffer Ingrid E, Tan Tiong Y, Van Bergen Nicole J, Tartaglia Marco, Christodoulou John, White Susan M

Abstract excerpt

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with latent transforming growth factor beta-1 (TGF- β1) and anchors it on the cell surface; this anchoring is required for activation of TGF-β1 in macrophages and microglia. We report six individuals from four families with bi-allelic variants in NRROS. All affected individuals had...

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Identifiers

PMID: 32197075
DOI: 10.1016/j.ajhg.2020.02.014
PMCID: PMC7118692

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