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The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.

LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM.

Exp Cell Res. 2011 Apr 1;317(6):691-705. doi: 10.1016/j.yexcr.2011.01.008. Epub 2011 Jan 20.


LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.

Vergarajauregui S, Martina JA, Puertollano R.

J Cell Sci. 2011 Feb 1;124(Pt 3):459-68. doi: 10.1242/jcs.076240. Epub 2011 Jan 11.


A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice.

Chandra M, Zhou H, Li Q, Muallem S, Hofmann SL, Soyombo AA.

Gastroenterology. 2011 Mar;140(3):857-67. doi: 10.1053/j.gastro.2010.11.040. Epub 2010 Nov 25.


Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel.

Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP.

J Biol Chem. 2010 Nov 5;285(45):34304-8. doi: 10.1074/jbc.C110.165480. Epub 2010 Sep 23.


Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.

Zeevi DA, Lev S, Frumkin A, Minke B, Bach G.

J Cell Sci. 2010 Sep 15;123(Pt 18):3112-24. doi: 10.1242/jcs.067330. Epub 2010 Aug 24.


Macroautophagy is defective in mucolipin-1-deficient mouse neurons.

Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA.

Neurobiol Dis. 2010 Nov;40(2):370-7. doi: 10.1016/j.nbd.2010.06.010. Epub 2010 Jun 28.


Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.

Geer JS, Skinner SA, Goldin E, Holden KR.

Pediatr Neurol. 2010 Mar;42(3):223-6. doi: 10.1016/j.pediatrneurol.2009.10.002.


Functional multimerization of mucolipin channel proteins.

Curcio-Morelli C, Zhang P, Venugopal B, Charles FA, Browning MF, Cantiello HF, Slaugenhaupt SA.

J Cell Physiol. 2010 Feb;222(2):328-35. doi: 10.1002/jcp.21956.


Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.

Vergarajauregui S, Martina JA, Puertollano R.

J Biol Chem. 2009 Dec 25;284(52):36357-66. doi: 10.1074/jbc.M109.047241. Epub 2009 Oct 28.


Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.

Dong XP, Wang X, Shen D, Chen S, Liu M, Wang Y, Mills E, Cheng X, Delling M, Xu H.

J Biol Chem. 2009 Nov 13;284(46):32040-52. doi: 10.1074/jbc.M109.037184. Epub 2009 Jul 28.


A potentially dynamic lysosomal role for the endogenous TRPML proteins.

Zeevi DA, Frumkin A, Offen-Glasner V, Kogot-Levin A, Bach G.

J Pathol. 2009 Oct;219(2):153-62. doi: 10.1002/path.2587.


Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage.

Kogot-Levin A, Zeigler M, Ornoy A, Bach G.

Pediatr Res. 2009 Jun;65(6):686-90. doi: 10.1203/PDR.0b013e3181a1681a.


Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

Micsenyi MC, Dobrenis K, Stephney G, Pickel J, Vanier MT, Slaugenhaupt SA, Walkley SU.

J Neuropathol Exp Neurol. 2009 Feb;68(2):125-35. doi: 10.1097/NEN.0b013e3181942cf0.


Chaperone-mediated autophagy is defective in mucolipidosis type IV.

Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA.

J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676.


A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent.

Bindu PS, Gayathri N, Yasha TC, Kovoor JM, Subasree R, Rao S, Panda S, Pal PK.

J Child Neurol. 2008 Dec;23(12):1443-6. doi: 10.1177/0883073808318537.


Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

Venkatachalam K, Long AA, Elsaesser R, Nikolaeva D, Broadie K, Montell C.

Cell. 2008 Nov 28;135(5):838-51. doi: 10.1016/j.cell.2008.09.041.


The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.

Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H.

Nature. 2008 Oct 16;455(7215):992-6. doi: 10.1038/nature07311. Epub 2008 Sep 14.


Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.

Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476.


Autophagic dysfunction in mucolipidosis type IV patients.

Vergarajauregui S, Connelly PS, Daniels MP, Puertollano R.

Hum Mol Genet. 2008 Sep 1;17(17):2723-37. doi: 10.1093/hmg/ddn174. Epub 2008 Jun 11.


Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.

Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R.

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3134-42. doi: 10.1167/iovs.07-1649. Epub 2008 Mar 7.

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