
TY  - JOUR
AU  - Venkatachalam, K.
AU  - Hofmann, T.
AU  - Montell, C.
TI  - Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1
JA  - J. Biol. Chem.
PY  - 2006///
VL  - 281
SP  - 17517
EP  - 17527
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1074/jbc.M600807200
N1  - 10.1074/jbc.M600807200
UR  - http://dx.doi.org/10.1074/jbc.M600807200
ER  -

TY  - JOUR
AU  - Clapham, D. E.
TI  - TRP channels as cellular sensors
JA  - Nature
PY  - 2003///
VL  - 426
SP  - 517
EP  - 524
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1038/nature02196
N1  - 10.1038/nature02196
UR  - http://dx.doi.org/10.1038/nature02196
ER  -

TY  - JOUR
AU  - Nilius, B.
AU  - Owsianik, G.
AU  - Voets, T.
AU  - Peters, J. A.
TI  - Transient receptor potential cation channels in disease
JA  - Physiol. Rev.
PY  - 2007///
VL  - 87
SP  - 165
EP  - 217
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1152/physrev.00021.2006
N1  - 10.1152/physrev.00021.2006
UR  - http://dx.doi.org/10.1152/physrev.00021.2006
ER  -

TY  - JOUR
AU  - Bassi, M. T.
TI  - Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV
JA  - Am. J. Hum. Genet.
PY  - 2000///
VL  - 67
SP  - 1110
EP  - 1120
PB  - Macmillan Publishers Limited. All rights reserved
ER  -

TY  - JOUR
AU  - Sun, M.
TI  - Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
JA  - Hum. Mol. Genet.
PY  - 2000///
VL  - 9
SP  - 2471
EP  - 2478
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1093/hmg/9.17.2471
N1  - 10.1093/hmg/9.17.2471
UR  - http://dx.doi.org/10.1093/hmg/9.17.2471
ER  -

TY  - JOUR
AU  - Hentze, M. W.
AU  - Muckenthaler, M. U.
AU  - Andrews, N. C.
TI  - Balancing acts: molecular control of mammalian iron metabolism
JA  - Cell
PY  - 2004///
VL  - 117
SP  - 285
EP  - 297
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1016/S0092-8674(04)00343-5
N1  - 10.1016/S0092-8674(04)00343-5
UR  - http://dx.doi.org/10.1016/S0092-8674(04)00343-5
ER  -

TY  - JOUR
AU  - Lee, D. W.
AU  - Andersen, J. K.
AU  - Kaur, D.
TI  - Iron dysregulation and neurodegeneration: the molecular connection
JA  - Mol. Interv.
PY  - 2006///
VL  - 6
SP  - 89
EP  - 97
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1124/mi.6.2.6
N1  - 10.1124/mi.6.2.6
UR  - http://dx.doi.org/10.1124/mi.6.2.6
ER  -

TY  - JOUR
AU  - Kidane, T. Z.
AU  - Sauble, E.
AU  - Linder, M. C.
TI  - Release of iron from ferritin requires lysosomal activity
JA  - Am. J. Physiol. Cell Physiol.
PY  - 2006///
VL  - 291
SP  - C445
EP  - C455
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1152/ajpcell.00505.2005
N1  - 10.1152/ajpcell.00505.2005
UR  - http://dx.doi.org/10.1152/ajpcell.00505.2005
ER  -

TY  - JOUR
AU  - Gunshin, H.
TI  - Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver
JA  - J. Clin. Invest.
PY  - 2005///
VL  - 115
SP  - 1258
EP  - 1266
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1172/JCI200524356
N1  - 10.1172/JCI200524356
UR  - http://dx.doi.org/10.1172/JCI200524356
ER  -

TY  - JOUR
AU  - Pryor, P. R.
AU  - Reimann, F.
AU  - Gribble, F. M.
AU  - Luzio, J. P.
TI  - Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
JA  - Traffic
PY  - 2006///
VL  - 7
SP  - 1388
EP  - 1398
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1111/j.1600-0854.2006.00475.x
N1  - 10.1111/j.1600-0854.2006.00475.x
UR  - http://dx.doi.org/10.1111/j.1600-0854.2006.00475.x
ER  -

TY  - JOUR
AU  - Xu, H.
AU  - Delling, M.
AU  - Li, L.
AU  - Dong, X.
AU  - Clapham, D. E.
TI  - Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice
JA  - Proc. Natl Acad. Sci. USA
PY  - 2007///
VL  - 104
SP  - 18321
EP  - 18326
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1073/pnas.0709096104
N1  - 10.1073/pnas.0709096104
UR  - http://dx.doi.org/10.1073/pnas.0709096104
ER  -

TY  - JOUR
AU  - Di Palma, F.
TI  - Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice
JA  - Proc. Natl Acad. Sci. USA
PY  - 2002///
VL  - 99
SP  - 14994
EP  - 14999
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1073/pnas.222425399
N1  - 10.1073/pnas.222425399
UR  - http://dx.doi.org/10.1073/pnas.222425399
ER  -

TY  - JOUR
AU  - Altarescu, G.
TI  - The neurogenetics of mucolipidosis type IV
JA  - Neurology
PY  - 2002///
VL  - 59
SP  - 306
EP  - 313
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1001/archneur.59.2.306
N1  - 10.1001/archneur.59.2.306
UR  - http://dx.doi.org/10.1001/archneur.59.2.306
ER  -

TY  - JOUR
AU  - Goldin, E.
TI  - Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
JA  - Hum. Mutat.
PY  - 2004///
VL  - 24
SP  - 460
EP  - 465
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1002/humu.20094
N1  - 10.1002/humu.20094
UR  - http://dx.doi.org/10.1002/humu.20094
ER  -

TY  - JOUR
AU  - Bargal, R.
AU  - Goebel, H. H.
AU  - Latta, E.
AU  - Bach, G.
TI  - Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin
JA  - Neuropediatrics
PY  - 2002///
VL  - 33
SP  - 199
EP  - 202
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1055/s-2002-34496
N1  - 10.1055/s-2002-34496
UR  - http://dx.doi.org/10.1055/s-2002-34496
ER  -

TY  - JOUR
AU  - Kress, G. J.
AU  - Dineley, K. E.
AU  - Reynolds, I. J.
TI  - The relationship between intracellular free iron and cell injury in cultured neurons, astrocytes, and oligodendrocytes
JA  - J. Neurosci.
PY  - 2002///
VL  - 22
SP  - 5848
EP  - 5855
PB  - Macmillan Publishers Limited. All rights reserved
ER  -

TY  - JOUR
AU  - Petrat, F.
AU  - de Groot, H.
AU  - Rauen, U.
TI  - Determination of the chelatable iron pool of single intact cells by laser scanning microscopy
JA  - Arch. Biochem. Biophys.
PY  - 2000///
VL  - 376
SP  - 74
EP  - 81
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1006/abbi.2000.1711
N1  - 10.1006/abbi.2000.1711
UR  - http://dx.doi.org/10.1006/abbi.2000.1711
ER  -

TY  - JOUR
AU  - Goldin, E.
AU  - Blanchette-Mackie, E. J.
AU  - Dwyer, N. K.
AU  - Pentchev, P. G.
AU  - Brady, R. O.
TI  - Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
JA  - Pediatr. Res.
PY  - 1995///
VL  - 37
SP  - 687
EP  - 692
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1203/00006450-199506000-00003
N1  - 10.1203/00006450-199506000-00003
UR  - http://dx.doi.org/10.1203/00006450-199506000-00003
ER  -

TY  - JOUR
AU  - Kurz, T.
AU  - Terman, A.
AU  - Gustafsson, B.
AU  - Brunk, U. T.
TI  - Lysosomes in iron metabolism, ageing and apoptosis
JA  - Histochem. Cell Biol.
PY  - 2008///
VL  - 129
SP  - 389
EP  - 406
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1007/s00418-008-0394-y
N1  - 10.1007/s00418-008-0394-y
UR  - http://dx.doi.org/10.1007/s00418-008-0394-y
ER  -

TY  - JOUR
AU  - Chen, C. S.
AU  - Bach, G.
AU  - Pagano, R. E.
TI  - Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
JA  - Proc. Natl Acad. Sci. USA
PY  - 1998///
VL  - 95
SP  - 6373
EP  - 6378
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1073/pnas.95.11.6373
N1  - 10.1073/pnas.95.11.6373
UR  - http://dx.doi.org/10.1073/pnas.95.11.6373
ER  -

TY  - JOUR
AU  - Zeevi, D. A.
AU  - Frumkin, A.
AU  - Bach, G.
TI  - TRPML and lysosomal function
JA  - Biochim. Biophys. Acta.
PY  - 2007///
VL  - 1772
SP  - 851
EP  - 858
PB  - Macmillan Publishers Limited. All rights reserved
ER  -

TY  - JOUR
AU  - Andrews, N. C.
AU  - Schmidt, P. J.
TI  - Iron homeostasis
JA  - Annu. Rev. Physiol.
PY  - 2007///
VL  - 69
SP  - 69
EP  - 85
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1146/annurev.physiol.69.031905.164337
N1  - 10.1146/annurev.physiol.69.031905.164337
UR  - http://dx.doi.org/10.1146/annurev.physiol.69.031905.164337
ER  -

TY  - JOUR
AU  - Cerny, J.
TI  - The small chemical vacuolin-1 inhibits Ca2+-dependent lysosomal exocytosis but not cell resealing
JA  - EMBO Rep.
PY  - 2004///
VL  - 5
SP  - 883
EP  - 888
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1038/sj.embor.7400243
N1  - 10.1038/sj.embor.7400243
UR  - http://dx.doi.org/10.1038/sj.embor.7400243
ER  -

TY  - JOUR
AU  - Saito, M.
AU  - Hanson, P. I.
AU  - Schlesinger, P.
TI  - Luminal chloride-dependent activation of endosome calcium channels: patch clamp study of enlarged endosomes
JA  - J. Biol. Chem.
PY  - 2007///
VL  - 282
SP  - 27327
EP  - 27333
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1074/jbc.M702557200
N1  - 10.1074/jbc.M702557200
UR  - http://dx.doi.org/10.1074/jbc.M702557200
ER  -

TY  - JOUR
AU  - Xu, H.
AU  - Jin, J.
AU  - DeFelice, L. J.
AU  - Andrews, N. C.
AU  - Clapham, D. E.
TI  - A spontaneous, recurrent mutation in divalent metal transporter-1 exposes a calcium entry pathway
JA  - PLoS Biol.
PY  - 2004///
VL  - 2
SP  - E50
PB  - Macmillan Publishers Limited. All rights reserved
M3  - 10.1371/journal.pbio.0020050
N1  - 10.1371/journal.pbio.0020050
UR  - http://dx.doi.org/10.1371/journal.pbio.0020050
ER  -
