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Article

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Human molecular genetics - 1 Sept 2008

Salin-Cantegrel Adèle, Shekarabi Masoud, Holbert Sébastien, Dion Patrick, Rochefort Daniel, Laganière Janet, Dacal Sandra, Hince Pascale, Karemera Liliane, Gaspar Claudia, Lapointe Jean-Yves, Rouleau Guy A

Abstract excerpt

The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood. The functional regulation of this transporter by protein partners is also largely unknown. Using a yeast...

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PMID: 18566107
DOI: 10.1093/hmg/ddn172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.PMID 18566107Read ↗

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