Associated Papers
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Gao J et al.
Molecular Neurobiology, 2024
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Jezela-Stanek A et al.
International Journal of Molecular Sciences, 2020
Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism.
Zhang S et al.
Protein & Cell, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mucolipidosis type IV: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
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