Article

Structure-guided reinterpretation of a disease-associated CWH43 residue-533 truncation identifies internal disruption of a conserved C-terminal module in idiopathic normal pressure hydrocephalus

2026-05-05

Abstract excerpt

Idiopathic normal pressure hydrocephalus (iNPH) is a chronic neurological disorder characterized by ventricular enlargement together with gait impairment, cognitive decline, and urinary dysfunction. Disease-associated CWH43 variants have emerged as genetic clues in iNPH, but the molecular consequences of truncating variants remain poorly defined. Here, we used structure-guided analysis to reinterpret the disease-a...

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Literature Corpus work: fd85f077-137f-5720-8be1-760b461479c7
DOI: 10.64898/2026.05.01.722067

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Structure-guided reinterpretation of a disease-associated CWH43 residue-533 truncation identifies internal disruption of a conserved C-terminal module in idiopathic normal pressure hydrocephalusDOI 10.64898/2026.05.01.722067Read

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