Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in a Murine Model.
Hailan HeXiaoshuang CaoFang HeWen ZhangXiaole WangPan PengChangning XieFei YinDengfeng LiJia-Da LiMinghui WangMalte KlüssendorfThomas J JentschTobias StauberJing PengPublished in: Annals of neurology (2024)
countertransport in the E200A mutant has a dominant effect on the autophagic/lysosomal pathway. ANN NEUROL 2024;96:608-624.