TPC2 rescues lysosomal storage in mucolipidosis type IV , Niemann–Pick type C1, and Batten disease

Simple and reliable detection of CRISPR-induced on-target effects by qgPCR and SNP genotyping

(2021) Isabel Weisheit et al.   Nature Protocols

MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV

(2021) Samantha DeRosa et al.   HUMAN MOLECULAR GENETICS

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

(2021) Chiara Soldati et al.   EMBO Molecular Medicine

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

(2021) Maria De Risi et al.   Nature Communications

Detection of Deleterious On-Target Effects after HDR-Mediated CRISPR Editing

(2020) Isabel Weisheit et al.   Cell Reports

Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function

(2020) Susanne Gerndt et al.   eLife

NAADP ‐regulated two‐pore channels drive phagocytosis through endo‐lysosomal Ca 2+ nanodomains, calcineurin and dynamin

(2020) Lianne C Davis et al.   EMBO JOURNAL

Increased lysosomal exocytosis induced by lysosomal Ca2+ channel agonists protects human dopaminergic neurons from α-synuclein toxicity

(2019) Taiji Tsunemi et al.   JOURNAL OF NEUROSCIENCE

Lysosomes as a therapeutic target

(2019) Srinivasa Reddy Bonam et al.   NATURE REVIEWS DRUG DISCOVERY

Sub-nanomolar sensitive GZnP3 reveals TRPML1-mediated neuronal Zn2+ signals

(2019) Taylor F. Minckley et al.   Nature Communications

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway

(2019) A. Scotto Rosato et al.   Nature Communications

Agonist-specific voltage-dependent gating of lysosomal two-pore Na+ channels

(2019) Xiaoli Zhang et al.   eLife

mTORC1 controls lysosomal Ca2+release through the two-pore channel TPC2

(2018) Oluseye A. Ogunbayo et al.   Science Signaling

mTORC1 controls lysosomal Ca2+release through the two-pore channel TPC2

(2018) Oluseye A. Ogunbayo et al.   Science Signaling

Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis

(2018) Elena V. Polishchuk et al.   GASTROENTEROLOGY

Hippocampal mGluR1-dependent long-term potentiation requires NAADP-mediated acidic store Ca2+ signaling

(2018) William J. Foster et al.   Science Signaling

Patch-clamp technique to characterize ion channels in enlarged individual endolysosomes

(2017) Cheng-Chang Chen et al.   Nature Protocols

Precise and efficient scarless genome editing in stem cells using CORRECT

(2017) Dylan Kwart et al.   Nature Protocols

Endolysosomal two-pore channels regulate autophagy in cardiomyocytes

(2016) Vanessa García-Rúa et al.   JOURNAL OF PHYSIOLOGY-LONDON

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9

(2016) Dominik Paquet et al.   NATURE

Glutamate induces autophagy via the two-pore channels in neural cells

(2016) Gustavo J. S. Pereira et al.   Oncotarget

Regulation of mTORC1 by lysosomal calcium and calmodulin

(2016) Ruo-Jing Li et al.   eLife

BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases

(2016) Xi Zoë Zhong et al.   Scientific Reports

BK Channels Alleviate Lysosomal Storage Diseases by Providing Positive Feedback Regulation of Lysosomal Ca2+ Release

(2015) Qi Cao et al.   DEVELOPMENTAL CELL

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+Homeostasis, Autophagy, and CLN3 Protein Function

(2015) Uma Chandrachud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

(2015) J. Zou et al.   JOURNAL OF NEUROSCIENCE

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

(2015) Diego L. Medina et al.   NATURE CELL BIOLOGY

Activation of TRPML1 Clears Intraneuronal A  in Preclinical Models of HIV Infection

(2014) M. Bae et al.   JOURNAL OF NEUROSCIENCE

The intracellular Ca2+ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy

(2014) Xiping Cheng et al.   NATURE MEDICINE

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

High susceptibility to fatty liver disease in two-pore channel 2-deficient mice

(2014) Christian Grimm et al.   Nature Communications

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

(2014) Cheng-Chang Chen et al.   Nature Communications

Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV

(2014) Yulia Grishchuk et al.   Acta Neuropathologica Communications

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

(2013) Chunlei Cang et al.   CELL

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

(2013) Mohammad Samie et al.   DEVELOPMENTAL CELL

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

(2013) Sovan Sarkar et al.   Cell Reports

TPC Proteins Are Phosphoinositide- Activated Sodium-Selective Ion Channels in Endosomes and Lysosomes

(2012) Xiang Wang et al.   CELL

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

(2012) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Loss of Lysosomal Ion Channel Transient Receptor Potential Channel Mucolipin-1 (TRPML1) Leads to Cathepsin B-dependent Apoptosis

(2012) Grace A. Colletti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Dongbiao Shen et al.   Nature Communications

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

(2011) Emyr Lloyd-Evans et al.   CELL CALCIUM

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

Genetic Identification of GnRH Receptor Neurons: A New Model for Studying Neural Circuits Underlying Reproductive Physiology in the Mouse Brain

(2011) Shuping Wen et al.   ENDOCRINOLOGY

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Aberrant Ca2+ handling in lysosomal storage disorders

(2010) Kirill Kiselyov et al.   CELL CALCIUM

Purified TPC Isoforms Form NAADP Receptors with Distinct Roles for Ca2+ Signaling and Endolysosomal Trafficking

(2010) Margarida Ruas et al.   CURRENT BIOLOGY

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

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

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

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

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

NAADP mobilizes calcium from acidic organelles through two-pore channels

(2009) Peter J. Calcraft et al.   NATURE

The two-pore channel TPCN2 mediates NAADP-dependent Ca2+-release from lysosomal stores

(2009) Xiangang Zong et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The Ca2+Channel TRPML3 Regulates Membrane Trafficking and Autophagy

(2009) Hyun Jin Kim et al.   TRAFFIC

Autophagic dysfunction in mucolipidosis type IV patients

(2008) Silvia Vergarajauregui et al.   HUMAN MOLECULAR GENETICS

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor

(2008) Daniel J Metcalf et al.   TRAFFIC