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Why can't Bertrand Might cry? Scientists offer an answer: missing water channels

19:00 EST 15 Jan 2020 | AAAS

(Sanford Burnham Prebys Medical Discovery Institute) Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency--a rare disorder first described in 2012--lack sufficient water channel proteins called aquaporins. The discovery was published in Cell Reports and may help explain the disorder's wide-ranging symptoms--including the inability to produce tears, seizures and developmental delays--and opens new avenues to find therapies to treat the disorder.

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