| Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands. | Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands.
Spix B, Castiglioni AJ, Remis NN, Flores EN, Wartenberg P, Wyatt A, Boehm U, Gudermann T, Biel M, García-Añoveros J, Grimm C., Free PMC Article | 12/24/2022 |
| Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice. | Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
Spix B, Butz ES, Chen CC, Rosato AS, Tang R, Jeridi A, Kudrina V, Plesch E, Wartenberg P, Arlt E, Briukhovetska D, Ansari M, Günsel GG, Conlon TM, Wyatt A, Wetzel S, Teupser D, Holdt LM, Ectors F, Boekhoff I, Boehm U, García-Añoveros J, Saftig P, Giera M, Kobold S, Schiller HB, Zierler S, Gudermann T, Wahl-Schott C, Bracher F, Yildirim AÖ, Biel M, Grimm C., Free PMC Article | 02/19/2022 |
| Mice lacking both mucolipins 3 and 1, but not either one alone, experienced hearing loss as early as at 1 month of age. | Codeficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss.
Wiwatpanit T, Remis NN, Ahmad A, Zhou Y, Clancy JC, Cheatham MA, García-Añoveros J., Free PMC Article | 10/12/2019 |
| lack of both mucolipins 1 and 3 causes an accelerated mucolipidosis IV-type of vacuolation in enterocytes | Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.
Remis NN, Wiwatpanit T, Castiglioni AJ, Flores EN, Cantú JA, García-Añoveros J., Free PMC Article | 12/19/2015 |
| Study shows that, when uropathogenic E. coli infect bladder epithelial cells, they are targeted by autophagy but avoid degradation because of their capacity to neutralize lysosomal pH. This change is detected by TRPML3, TRPML3 activation then spontaneously initiates lysosome exocytosis, resulting in expulsion of exosome-encased bacteria. | A TRP Channel Senses Lysosome Neutralization by Pathogens to Trigger Their Expulsion.
Miao Y, Li G, Zhang X, Xu H, Abraham SN., Free PMC Article | 08/22/2015 |
| Trpml3 inactivation does not lead to hearing and vestibular impairment in mice | Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.
Jörs S, Grimm C, Becker L, Heller S., Free PMC Article | 07/9/2011 |
| Results describe the expression and subcellular distribution of TRPML3 in the inner ear as well as in other sensory organs. | Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons.
Castiglioni AJ, Remis NN, Flores EN, García-Añoveros J., Free PMC Article | 06/4/2011 |
| prominent role for MCOLN3 in regulating Ca(2+) homeostasis at the endosomal pathway | Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway.
Lelouvier B, Puertollano R., Free PMC Article | 05/21/2011 |
| In animal disease model of neuropathic pain, the TRPML3 showed the most dramatic change. | Differential regulation of TRP channels in a rat model of neuropathic pain.
Staaf S, Oerther S, Lucas G, Mattsson JP, Ernfors P. | 01/21/2010 |
| The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P). | Life and death of sensory hair cells expressing constitutively active TRPML3.
Grimm C, Jörs S, Heller S., Free PMC Article | 01/21/2010 |
| The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence. (Review) | The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.
Cuajungco MP, Samie MA. | 01/21/2010 |
| an adverse effect of mutant TRPML3 on bundle development and mechano-electrical transduction is the main cause of hearing loss in Va(J)/+ mutant mice | TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.
van Aken AF, Atiba-Davies M, Marcotti W, Goodyear RJ, Bryant JE, Richardson GP, Noben-Trauth K, Kros CJ., Free PMC Article | 01/21/2010 |
| The A419P mutation affects TRPLMe channel glycosylation and causes massive cell death | Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.
Kim HJ, Li Q, Tjon-Kon-Sang S, So I, Kiselyov K, Muallem S. | 01/21/2010 |
| TRPML3(A419P) and (I362T+A419P) at physiological potentials may have a role in hair cell degeneration and deafness | The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.
Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, García-Añoveros J., Free PMC Article | 01/21/2010 |
| This study provides the first direct mechanistic link of a mutation in a TRPML3 with mammalian hearing loss. | A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse.
Grimm C, Cuajungco MP, van Aken AF, Schnee M, Jörs S, Kros CJ, Ricci AJ, Heller S., Free PMC Article | 01/21/2010 |
| TRPML3 is critical for stereocilia bundle formation during development and may function during endocytosis or exocytosis. | TRPML3 and hearing loss in the varitint-waddler mouse.
Atiba-Davies M, Noben-Trauth K. | 01/21/2010 |
| Mutations are associated with deafness and pigmentation defects in varitint-waddler (Va) mice | Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B, Noben-Trauth K., Free PMC Article | 01/21/2010 |
| there is a hierarchy controlling the subcellular distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the localization of TRPML3 and not vice versa | Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
Venkatachalam K, Hofmann T, Montell C., Free PMC Article | 01/21/2010 |