N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models.

Hematopoietic Stem-Cell Gene Therapy for Cystinosis.

Calretinin Contributes to Trigeminal Neuropathic Pain Downstream of Cavα2δ1.

Chronic stress-induced ANPEP drives liver cancer progression by increasing glutathione synthesis and inhibiting ferroptosis.

Homology Modeling of Type-P5 ATPases from the Malaria Parasite: Insight into Their Functions and Evolution, and Implications About the Effect and Role of Intrinsically Disordered Protein Structure.

Homocysteine disrupts lysosomal function by V-ATPase inhibition.

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

Hyperuricemia increases susceptibility to chronic kidney injury exacerbation via autophagic flux blockade-mediated ammonia death pathway.

Interplay between age, APOE Ɛ4 and the metabolome in plasma and brain in Alzheimer's disease.

Kmo restricts Salmonella in a whole organism infection model by promoting macrophage lysosomal acidification through kainate receptor antagonism.

Black carp Nup93 negatively regulates IRF3- and IRF7-mediated antiviral immune response.

TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.

The Novel MuRF2 Target SNX5 Regulates PKA Activity Through Stabilization of RI-α and Controls Myogenic Differentiation.

VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.

WDFY4 Promotes the Progression of Atherosclerosis by Regulating Ferroptosis Mediated by the LAPTM5/CDC42/mTOR/4EBP1/SLC7A11 Pathway.

Dimethyl malonate preserves brain and neurobehavioral phenotype following neonatal hypoxia-ischemia by inhibiting FTH1-mediated ferritinophagy.

Mycophenolate mofetil inhibits ferroptosis by boosting autophagy to prevent pulmonary fibrosis.

Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis.

LncRNA-induced lysosomal localization of NHE1 promotes increased lysosomal pH in macrophages leading to atherosclerosis.

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS.

Long-term outcomes in nephropathic cystinosis: a review.

SLC38A9 is directly involved in Tat-induced endolysosome dysfunction and senescence in astrocytes.

N-acetyl-l-leucine lowers pS129-synuclein and improves synaptic function in models of Parkinson's disease.

SLC7A11 is an unconventional H+ transporter in lysosomes.

Inhibiting SNX14 Alleviates Epileptic Seizures by Regulating GluA2 Degradation via the Lysosomal Pathway.

Novel mechanism for tubular injury in nephropathic cystinosis.

Puromycin Proximity Ligation Assay (Puro-PLA) to Assess Local Translation in Axons From Human Neurons.

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis.

Unraveling pH Regulation of TMEM175, an Endolysosomal Cation Channel With a Role in Parkinson's Disease.

Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.

Amyloid-β-Driven Synaptic Deficits Are Mediated by Synaptic Removal of GluA3-Containing AMPA Receptors.

Phosphorylation on serine 72 modulates Rab7A palmitoylation and retromer recruitment.

NFκB and JNK pathways mediate metabolic adaptation upon ESCRT-I deficiency.

RNAseq and targeted metabolomics implicate RIC8 in regulation of energy homeostasis, amino acid compartmentation, and asexual development in Neurospora crassa.

Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis.

[Lysosomal storage disorders - Fabry disease and Gaucher disease].

KA-mediated excitotoxicity induces neuronal ferroptosis through activation of ferritinophagy.

Enhanced Tumor-Targeted Delivery of Arginine-Rich Peptides via a Positive Feedback Loop Orchestrated by Piezo1/integrin β1 Signaling Axis.

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

ELD607 specifically traffics Orai1 to the lysosome leading to inhibition of store operated calcium entry.

Aloperine Suppresses Cancer Progression by Interacting with VPS4A to Inhibit Autophagosome-lysosome Fusion in NSCLC.

Long-term effects of luteolin in a mouse model of nephropathic cystinosis.

Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection.

New approaches to the control of chronic inflammatory diseases with a focus on the endolysosomal system of immune cells.

Early and selective localization of tau filaments to glutamatergic subcellular domains within the human anterodorsal thalamus.

The complete assembly of human LAT1-4F2hc complex provides insights into its regulation, function and localisation.

Defective Lamtor5 Leads to Autoimmunity by Deregulating v-ATPase and Lysosomal Acidification.

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.

S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease.

MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.

The Digestive Vacuole of the Malaria Parasite: A Specialized Lysosome.

A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis.

Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl-/H+ Exchanger ClC-7.

Extrarenal complications of cystinosis.

Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity.

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).

Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.

Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.

Inhibition of Amino Acids Influx into Proximal Tubular Cells Improves Lysosome Function in Diabetes.

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.

A Toxoplasma gondii putative amino acid transporter localizes to the plant-like vacuolar compartment and controls parasite extracellular survival and stage differentiation.

Glycine recalibrates iron homeostasis of lens epithelial cells by blocking lysosome-dependent ferritin degradation.

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.

Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons.

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.

L-Type Amino Acid Transporter 1 (LAT1) Promotes PMA-Induced Cell Migration through mTORC2 Activation at the Lysosome.

Structural basis for recruitment of TASL by SLC15A4 in human endolysosomal TLR signaling.

A LIGHTFUL nanomedicine overcomes EGFR-mediated drug resistance for enhanced tyrosine-kinase-inhibitor-based hepatocellular carcinoma therapy.

A Toxoplasma gondii putative arginine transporter localizes to the plant-like vacuolar compartment and controls parasite extracellular survival and stage differentiation.

RNA binding motif protein 45-mediated phosphorylation enhances protein stability of ASCT2 to promote hepatocellular carcinoma progression.

The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis.

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.

SLC38A5 aggravates DC-mediated psoriasiform skin inflammation via potentiating lysosomal acidification.

Transcriptome analysis of Cryptocaryon irritans tomont responding to Bacillus licheniformis treatment.

Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.

[Cystinosis: From the gene identification to the first gene therapy clinical trial].

Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.

Picornavirus infection enhances aspartate by the SLC38A8 transporter to promote viral replication.

Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.

SLC7A14 imports GABA to lysosomes and impairs hepatic insulin sensitivity via inhibiting mTORC2.

Identification of the target protein and molecular mechanism of honokiol in anti-inflammatory action.

A tyrosine-based YXXΦ motif regulates the degradation of aquaporin-4 via both lysosomal and proteasomal pathways and is functionally inhibited by a 10-amino-acid sequence within its C-terminus.

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

A novel diG motif in ORF3a protein of SARS-Cov-2 for intracellular transport.

Lysosomal positioning regulates Rab10 phosphorylation at LRRK2+ lysosomes.

[Pulmonary phenotypes of inborn errors of metabolism].

Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.

Structure and mechanism of human cystine exporter cystinosin.

Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.

The phagosomal solute transporter SLC15A4 promotes inflammasome activity via mTORC1 signaling and autophagy restraint in dendritic cells.

Structural basis for proton coupled cystine transport by cystinosin.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.

Inhibition of ASGR1 decreases lipid levels by promoting cholesterol excretion.

Hepatitis C virus NS5A protein promotes the lysosomal degradation of diacylglycerol O-acyltransferase 1 (DGAT1) via endosomal microautophagy.

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.

LAMP2A mediates the loading of proteins into endosomes and selects exosomal cargo.

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.

Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.

Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Cystinosis and two rare mutations in CTNS gene: two case reports.

Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10.

Mutations in V-ATPase in follicular lymphoma activate autophagic flux creating a targetable dependency.

Arginine-Rich Polymers with Pore-Forming Capability Enable Efficient Intracellular Delivery via Direct Translocation Across Cell Membrane.

Slc38a9 Deficiency Induces Apoptosis and Metabolic Dysregulation and Leads to Premature Death in Zebrafish.

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

ATF3 -activated accelerating effect of LINC00941/lncIAPF on fibroblast-to-myofibroblast differentiation by blocking autophagy depending on ELAVL1/HuR in pulmonary fibrosis.

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.

Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.

Lysosomal cystine mobilization shapes the response of TORC1 and tissue growth to fasting.

Autophagy-Related Gene PlATG6a Is Involved in Mycelial Growth, Asexual Reproduction and Tolerance to Salt and Oxidative Stresses in Peronophythora litchii.

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.

Therapeutic regulation of autophagy in hepatic metabolism.

Discoidin domain receptor 1 promotes hepatocellular carcinoma progression through modulation of SLC1A5 and the mTORC1 signaling pathway.

Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype.

Schistosome TRPML channels play a role in neuromuscular activity and tegumental integrity.

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.

ER proteins decipher the tubulin code to regulate organelle distribution.

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis.

Direct Interaction of ATP7B and LC3B Proteins Suggests a Cooperative Role of Copper Transportation and Autophagy.

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model.

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.

Targeting autophagy using small-molecule compounds to improve potential therapy of Parkinson's disease.

DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis.

Mitochondrial-derived compartments facilitate cellular adaptation to amino acid stress.

The amyloid precursor protein is a conserved Wnt receptor.

Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach.

Acetylation turns leucine into a drug by membrane transporter switching.

Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism.

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.

β-Methylamino-L-alanine-induced protein aggregation in vitro and protection by L-serine.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.

Activation of mTORC1 at late endosomes misdirects T cell fate decision in older individuals.

Metabolomic profiling of single enlarged lysosomes.

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.

mTOR controls endoplasmic reticulum-Golgi apparatus trafficking of VSVg in specific cell types.

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.

Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T.

How autophagy controls the intestinal epithelial barrier.

PCA062, a P-cadherin Targeting Antibody-Drug Conjugate, Displays Potent Antitumor Activity Against P-cadherin-expressing Malignancies.

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).

The Atg16l1 gene: characterization of wild type, knock-in, and knock-out phenotypes in rats.

Serine metabolism antagonizes antiviral innate immunity by preventing ATP6V0d2-mediated YAP lysosomal degradation.

The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Astrocytes respond to a neurotoxic Aβ fragment with state-dependent Ca2+ alteration and multiphasic transmitter release.

Coxsackievirus B3 targets TFEB to disrupt lysosomal function.

West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Cigarette smoke affects ESCRT-mediated vacuolar activity in Saccharomyces cerevisiae.

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.

ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

Large transient capacitive currents in wild-type lysosomal Cl-/H+ antiporter ClC-7 and residual transport activity in the proton glutamate mutant E312A.

MFSD12 mediates the import of cysteine into melanosomes and lysosomes.

The Structure of the Membrane Protein of SARS-CoV-2 Resembles the Sugar Transporter SemiSWEET.

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

The Protein Translocation Defect of MCT8L291R Is Rescued by Sodium Phenylbutyrate.

Sensing Host Arginine Is Essential for Leishmania Parasites' Intracellular Development.

A polylysine-polyhistidine fusion peptide for lysosome-targeted protein delivery.

Targeting increased levels of APP in Down syndrome: Posiphen-mediated reductions in APP and its products reverse endosomal phenotypes in the Ts65Dn mouse model.

Autophagy and its role in regeneration and remodeling within invertebrate.

Molecular basis for a new bovine model of Niemann-Pick type C disease.

Melasolv induces melanosome autophagy to inhibit pigmentation in B16F1 cells.

HMGB1 mediates homocysteine-induced endothelial cells pyroptosis via cathepsin V-dependent pathway.

Potential Mechanism of Cellular Uptake of the Excitotoxin Quinolinic Acid in Primary Human Neurons.

Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2.

Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.

Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin.

Nephropathic cystinosis: an update on genetic conditioning.

Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2.

Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.

Exploring Extracellular Vesicles Biogenesis in Hypothalamic Cells through a Heavy Isotope Pulse/Trace Proteomic Approach.

TASL is the SLC15A4-associated adaptor for IRF5 activation by TLR7-9.

The emerging roles of vacuolar-type ATPase-dependent Lysosomal acidification in neurodegenerative diseases.

Inherited disorders of lysosomal membrane transporters.

The lysosome: A potential juncture between SARS-CoV-2 infectivity and Niemann-Pick disease type C, with therapeutic implications.

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Cholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior.

The Role of VPS35 in the Pathobiology of Parkinson's Disease.

Isoimperatorin (ISO) reduces melanin content in keratinocytes via miR-3619/CSTB and miR-3619/CSTD axes.

Chloroquine and bafilomycin A mimic lysosomal storage disorders and impair mTORC1 signalling.

Structural basis for ion selectivity in TMEM175 K+ channels.

The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.

HMGB1 Translocation in Neurons after Ischemic Insult: Subcellular Localization in Mitochondria and Peroxisomes.

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.

High-content imaging and structure-based predictions reveal functional differences between Niemann-Pick C1 variants.