A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

doi:10.1016/j.ajhg.2020.11.004

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Article

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

American journal of human genetics - 3 Dec 2020

Polovitskaya Maya M, Barbini Carlo, Martinelli Diego, Harms Frederike L, Cole F Sessions, Calligari Paolo, Bocchinfuso Gianfranco, Stella Lorenzo, Ciolfi Andrea, Niceta Marcello, Rizza Teresa, Shinawi Marwan, Sisco Kathleen, Johannsen Jessika, Denecke Jonas, Carrozzo Rosalba, Wegner Daniel J, Kutsche Kerstin, Tartaglia Marco, Jentsch Thomas J

Abstract excerpt

Dysfunction of the endolysosomal system is often associated with neurodegenerative disease because postmitotic neurons are particularly reliant on the elimination of intracellular aggregates. Adequate function of endosomes and lysosomes requires finely tuned luminal ion homeostasis and transmembrane ion fluxes. Endolysosomal CLC Cl-/H+ exchangers function as electric shunts for proton pumping and in luminal Cl-...

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PMID: 33217309
DOI: 10.1016/j.ajhg.2020.11.004
PMCID: PMC7820737

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