A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter

(2013) Ira Kukic et al.   BIOCHEMICAL JOURNAL

mTOR Regulates Lysosomal ATP-Sensitive Two-Pore Na+ Channels to Adapt to Metabolic State

(2013) Chunlei Cang et al.   CELL

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV

(2013) AlBandary AlBakheet et al.   GENE

Systematic Screens for Proteins That Interact with the Mucolipidosis Type IV Protein TRPML1

(2013) Ellen Spooner et al.   PLoS One

Constitutive Activity of TRPML2 and TRPML3 Channels versus Activation by Low Extracellular Sodium and Small Molecules

(2012) C. Grimm et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome

(2012) J. Jeong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphoinositide isoforms determine compartment-specific ion channel activity

(2012) X. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of Protein Kinase D in Golgi Exit and Lysosomal Targeting of the Transmembrane Protein, Mcoln1

(2012) David L. Marks et al.   TRAFFIC

Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

(2012) Dongbiao Shen et al.   Nature Communications

Targeting CFTR: How to Treat Cystic Fibrosis by CFTR-Repairing Therapies

(2011) Margarida D. Amaral   CURRENT DRUG TARGETS

The biophysical and molecular basis of TRPV1 proton gating

(2011) Eduardo Aneiros et al.   EMBO JOURNAL

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

(2011) S. Vergarajauregui et al.   JOURNAL OF CELL SCIENCE

Therapeutics Development for Cystic Fibrosis: A Successful Model for a Multisystem Genetic Disease

(2010) Melissa A. Ashlock et al.   Annual Review of Medicine

Small Molecule Activators of TRPML3

(2010) Christian Grimm et al.   CHEMISTRY & BIOLOGY

A Role for the Ca2+ Channel TRPML1 in Gastric Acid Secretion, Based on Analysis of Knockout Mice

(2010) Manjari Chandra et al.   GASTROENTEROLOGY

Zinc Dyshomeostasis Is Linked with the Loss of Mucolipidosis IV-associated TRPML1 Ion Channel

(2010) Jonathan L. Eichelsdoerfer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Two-pore Channel 2 (TPCN2)-mediated Ca2+Currents in Isolated Lysosomes

(2010) Michael Schieder et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) D. A. Zeevi et al.   JOURNAL OF CELL SCIENCE

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

(2010) Cyntia Curcio-Morelli et al.   NEUROBIOLOGY OF DISEASE

Planar Patch Clamp Approach to Characterize Ionic Currents from Intact Lysosomes

(2010) M. Schieder et al.   Science Signaling

PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome

(2010) Xian-ping Dong et al.   Nature Communications

Identification of the Penta-EF-hand Protein ALG-2 as a Ca2+-dependent Interactor of Mucolipin-1

(2009) Silvia Vergarajauregui et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Activating Mutations of the TRPML1 Channel Revealed by Proline-scanning Mutagenesis

(2009) Xian-ping Dong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation

(2008) Silvia Vergarajauregui et al.   BIOCHEMICAL JOURNAL

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation

(2008) Beyhan Tüysüz et al.   BRAIN & DEVELOPMENT

Membrane traffic and turnover in TRP-ML1–deficient cells: a revised model for mucolipidosis type IV pathogenesis

(2008) Mark T. Miedel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2008) Xian-Ping Dong et al.   NATURE