Disease: Cystin transport- protein defect of
- A case of cystinuria presenting with cerebellar ataxia and dementia
- A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
- A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing
- A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria
- Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells
- Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report
- alpha-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria
- AMPK-Mediated BECN1 Phosphorylation Promotes Ferroptosis by Directly Blocking System X<sub>c</sub><sup>-</sup> Activity
- Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria
- Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy
- Ca(2+)-mediated higher-order assembly of heterodimers in amino acid transport system b(0,+) biogenesis and cystinuria
- Ca<sup>2+</sup>-mediated higher-order assembly of heterodimers in amino acid transport system b<sup>0,+</sup> biogenesis and cystinuria
- Cell therapy for cystinosis
- Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis
- Cfs1p, a Novel Membrane Protein in the PQ-Loop Family, Is Involved in Phospholipid Flippase Functions in Yeast
- Clinical and genetic characterization of Chinese pediatric cystine stone patients
- Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel <em>SLC3A1</em> Mutation
- Collecting duct carcinoma of the kidney is associated with CDKN2A deletion and SLC family gene up-regulation
- Corticostriatal dysfunction and social interaction deficits in mice lacking the cystine/glutamate antiporter
- CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report
- Cystathionine gamma-lyase is a component of cystine-mediated oxidative defense in Lactobacillus reuteri BR11
- Cystine-glutamate antiporter xCT deficiency suppresses tumor growth while preserving antitumor immunity
- Cystine/glutamate antiporter xCT deficiency reduces metastasis without impairing immune system function in breast cancer mouse models
- Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling
- Cystinosin is a melanosomal protein that regulates melanin synthesis
- Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A
- Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
- Cystinosis: a review
- Cystinosis: the evolution of a treatable disease
- Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat
- Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany
- Cystinuria: an inborn cause of urolithiasis
- Cystinuria: an update on pathophysiology, genetics, and clinical management
- Cystinuria: genetic aspects, mouse models, and a new approach to therapy
- Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis
- Delineation of cystinuria in Saudi Arabia: A case series
- Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats
- DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis
- Dysregulation of system xc(-) expression induced by mutant huntingtin in a striatal neuronal cell line and in R6/2 mice
- Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis
- Feline cystinuria caused by a missense mutation in the SLC3A1 gene
- Ferroptosis as a p53-mediated activity during tumour suppression
- Ferroptosis Promotes Cyst Growth in Autosomal Dominant Polycystic Kidney Disease Mouse Models
- Gastrointestinal methionine shuttle: Priority handling of precious goods
- Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene
- Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria
- Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis
- Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model
- Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy
- Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
- Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry
- In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria
- Infantile Nephropathic Cystinosis: A Novel <em>CTNS</em> Mutation
- Insights into the molecular basis for substrate binding and specificity of the fungal cystine transporter CgCYN1
- Intrinsic Bone Defects in Cystinotic Mice
- Is genetic rescue of cystinosis an achievable treatment goal?
- Keratin degradation by dermatophytes relies on cysteine dioxygenase and a sulfite efflux pump
- LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis
- Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients
- Lipidomics characterization of the lipid metabolism profiles in a cystinuria rat model: Precalculus damage in the kidney of cystinuria
- Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells
- Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization
- Lysosomal Targeting of Cystinosin Requires AP-3
- MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis
- Molecular and cellular basis of lysosomal transmembrane protein dysfunction
- Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
- Molecular characterization of cystinuria in south-eastern European countries
- Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
- Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia
- Natural history of adolescent-onset cystinosis
- Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation
- Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity
- No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria
- Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene
- Oh cystinosin: let me count the ways!
- Pathophysiology and treatment of cystinuria
- Reduced phosphate transport in the renal proximal tubule cells in cystinosis is due to decreased expression of transporters rather than an energy defect
- Renal phenotype of the cystinosis mouse model is dependent upon genetic background
- SLC7A11 as a biomarker and therapeutic target in HPV-positive head and neck Squamous Cell Carcinoma
- Structural and functional diversity of acidic scorpion potassium channel toxins
- Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation
- Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model
- Targeting of NMDA receptors in new treatments for schizophrenia
- The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9<sup>-/-</sup> mouse model of cystinuria
- The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis
- The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
- The glutamatergic compounds sarcosine and N-acetylcysteine ameliorate prepulse inhibition deficits in metabotropic glutamate 5 receptor knockout mice
- The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells
- The Staphylococcus aureus Cystine Transporters TcyABC and TcyP Facilitate Nutrient Sulfur Acquisition during Infection
- Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys
- Transcriptional and posttranscriptional regulation of the CTNS gene
- Transferrin and antioxidants partly prevented mouse oocyte oxidative damage induced by exposure of cumulus-oocyte complexes to endometrioma fluid
- Tumor-associated mesenchymal stem cells inhibit naïve T cell expansion by blocking cysteine export from dendritic cells
- Two novel CTNS mutations in cystinosis patients in Thailand
- Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis
- Urinary biomarkers in the early detection and follow-up of tubular injury in childhood urolithiasis
- Urine proteomic profiling in patients with nephrolithiasis and cystinuria
- Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis
- xCT deficiency accelerates chemically induced tumorigenesis
- α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria