A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
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DOI: 10.1016/j.ajhg.2020.11.004
Abstract: 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… read more here.
Keywords: function; clc; clcn6 encoding; mutation clcn6 ... See more keywords