TPC1 Has Two Variant Isoforms, and Their Removal Has Different Effects on Endo-Lysosomal Functions Compared to Loss of TPC2

@inproceedings{Ruas2014TPC1HT,
  title={TPC1 Has Two Variant Isoforms, and Their Removal Has Different Effects on Endo-Lysosomal Functions Compared to Loss of TPC2},
  author={Margarida Ruas and Kai-Ting Chuang and Lianne C. Davis and Areej Al-Douri and Patricia W. Tynan and Ruth Tunn and Lydia Teboul and Antony Galione and John Parrington},
  booktitle={Molecular and cellular biology},
  year={2014}
}
Organelle ion homeostasis within the endo-lysosomal system is critical for physiological functions. Two-pore channels (TPCs) are cation channels that reside in endo-lysosomal organelles, and overexpression results in endo-lysosomal trafficking defects. However, the impact of a lack of TPC expression on endo-lysosomal trafficking is unknown. Here, we characterize Tpcn1 expression in two transgenic mouse lines (Tpcn1(XG716) and Tpcn1(T159)) and show expression of a novel evolutionarily conserved… CONTINUE READING

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Two-pore channels and disease☆

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