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References

These sources were used to develop the Genetics Home Reference gene summary on the MCOLN1 gene.

Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature. 2008 Oct 16;455(7215):992-6. doi: 10.1038/nature07311. Epub 2008 Sep 14. PubMed citation
Entrez Gene
Gene Review: Mucolipidosis IV
Miedel MT, Rbaibi Y, Guerriero CJ, Colletti G, Weixel KM, Weisz OA, Kiselyov K. Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. J Exp Med. 2008 Jun 9;205(6):1477-90. doi: 10.1084/jem.20072194. Epub 2008 May 26. PubMed citation
Puertollano R, Kiselyov K. TRPMLs: in sickness and in health. Am J Physiol Renal Physiol. 2009 Jun;296(6):F1245-54. doi: 10.1152/ajprenal.90522.2008. Epub 2009 Jan 21. Review. PubMed citation
Ruivo R, Anne C, Sagné C, Gasnier B. Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta. 2009 Apr;1793(4):636-49. doi: 10.1016/j.bbamcr.2008.12.008. Epub 2008 Dec 24. Review. PubMed citation
Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA. Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676. PubMed citation
Vergarajauregui S, Connelly PS, Daniels MP, Puertollano R. Autophagic dysfunction in mucolipidosis type IV patients. Hum Mol Genet. 2008 Sep 1;17(17):2723-37. doi: 10.1093/hmg/ddn174. Epub 2008 Jun 11. PubMed citation
Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. Biochem J. 2008 Mar 1;410(2):417-25. PubMed citation
Vergarajauregui S, Puertollano R. Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. Autophagy. 2008 Aug;4(6):832-4. Epub 2008 Jul 8. PubMed citation


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