| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1023194040 |
| P356 | DOI | 10.1007/S00467-013-2652-Z |
| P932 | PMC publication ID | 4018427 |
| P698 | PubMed publication ID | 24217784 |
| P50 | author | Kameswaran Surendran | Q83763706 |
| P2093 | author name string | David A Pearce | |
| Seasson P Vitiello | |||
| P2860 | cites work | Cystinosis | Q24262959 |
| The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif | Q24290722 | ||
| Megalin and cubilin: multifunctional endocytic receptors | Q24296807 | ||
| Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts | Q24302197 | ||
| OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome | Q24318114 | ||
| A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis | Q24322985 | ||
| Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network | Q24534275 | ||
| WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathway | Q24652877 | ||
| Cystinosis: the evolution of a treatable disease | Q26863651 | ||
| Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter | Q27937730 | ||
| ERS1 encodes a functional homologue of the human lysosomal cystine transporter | Q27940319 | ||
| Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin | Q28137732 | ||
| Characterization of renal chloride channel (CLCN5) mutations in Dent's disease | Q28141493 | ||
| LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice | Q28181137 | ||
| Human hypertension caused by mutations in WNK kinases | Q28212182 | ||
| OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability | Q28242430 | ||
| A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome | Q28277094 | ||
| Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium | Q28288921 | ||
| Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2 | Q28307851 | ||
| Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules | Q28592336 | ||
| Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis | Q30541728 | ||
| Autophagy sequesters damaged lysosomes to control lysosomal biogenesis and kidney injury | Q30544606 | ||
| 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? | Q33348982 | ||
| Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis | Q33711275 | ||
| Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). | Q33988780 | ||
| The coincidence of IgA nephropathy and Fabry disease | Q34543669 | ||
| The WNKs: atypical protein kinases with pleiotropic actions. | Q34560188 | ||
| Renal pathology in Fabry disease. | Q34688823 | ||
| Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy | Q34695333 | ||
| Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. | Q34805162 | ||
| Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells | Q35720129 | ||
| Protein reabsorption in renal proximal tubule-function and dysfunction in kidney pathophysiology | Q35775018 | ||
| Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. | Q35819885 | ||
| Cellular and molecular mechanisms of renal fibrosis | Q35903772 | ||
| mVps34 deletion in podocytes causes glomerulosclerosis by disrupting intracellular vesicle trafficking | Q36574743 | ||
| Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis | Q36673678 | ||
| Nephropathic cystinosis: late complications of a multisystemic disease | Q37002855 | ||
| Deficiency of the tetraspanin CD63 associated with kidney pathology but normal lysosomal function | Q37099908 | ||
| Fibrosis: a key feature of Fabry disease with potential therapeutic implications | Q37113004 | ||
| Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla | Q37174221 | ||
| Renal complications of Fabry disease in children | Q37265117 | ||
| Trafficking and function of the tetraspanin CD63. | Q37302224 | ||
| Molecular mechanisms of receptor-mediated endocytosis in the renal proximal tubular epithelium. | Q37654819 | ||
| The pathogenesis of cystinosis: mechanisms beyond cystine accumulation | Q37786450 | ||
| Glycosphingolipids and kidney disease | Q37930558 | ||
| Congenital nephrogenic diabetes insipidus: the current state of affairs | Q37994652 | ||
| OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin | Q39463370 | ||
| Vps34 deficiency reveals the importance of endocytosis for podocyte homeostasis | Q40129029 | ||
| Hemizygous Fabry disease associated with IgA nephropathy: a case report. | Q40377725 | ||
| Recent advances in the treatment of cystinosis | Q40379210 | ||
| Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines | Q40508227 | ||
| Early renal changes in hemizygous and heterozygous patients with Fabry's disease | Q41410955 | ||
| Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal? | Q41917152 | ||
| Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells | Q42491489 | ||
| p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis | Q42508251 | ||
| Renal phenotype of the cystinosis mouse model is dependent upon genetic background | Q43257283 | ||
| Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells | Q44223955 | ||
| Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. | Q46025928 | ||
| Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells | Q46734471 | ||
| Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis | Q46776598 | ||
| Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts | Q46913688 | ||
| Mouse model of proximal tubule endocytic dysfunction. | Q50511874 | ||
| Fabry disease: a morphologic study of 11 cases. | Q51798460 | ||
| Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. | Q52087477 | ||
| ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. | Q52541657 | ||
| Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. | Q52541771 | ||
| ATP-dependent lysosomal cystine efflux is defective in cystinosis | Q53563602 | ||
| Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta. | Q53587514 | ||
| Isolation of a novel gene underlying batten disease, CLN3 | Q56804260 | ||
| Kidney histologic alterations in α-Galactosidase-deficient mice | Q59182412 | ||
| Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy | Q59182497 | ||
| Improved renal function in children with cystinosis treated with cysteamine | Q70617637 | ||
| Cystine: Compartmentalization within Lysosomes in Cystinotic Leukocytes | Q71229621 | ||
| Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis | Q72254080 | ||
| Early development of the renal lesions in infantile cystinosis | Q73233049 | ||
| Microdissection of the nephron in disease | Q74521663 | ||
| The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients | Q79535772 | ||
| Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice | Q79743394 | ||
| IgA nephropathy in two adolescent sisters heterozygous for Fabry disease | Q79895535 | ||
| High incidence of autoantibodies in Fabry disease patients | Q80215879 | ||
| Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model | Q80292340 | ||
| Increased free-cystine content of fibroblasts cultured from patients with cystinosis | Q82640892 | ||
| Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells | Q83523305 | ||
| Fabry disease and immunoglobulin A nephropathy | Q85305776 | ||
| Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2 | Q85428926 | ||
| Lysosomal cystine storage in cystinosis and mucolipidosis type II | Q93651736 | ||
| P433 | issue | 12 | |
| P921 | main subject | pathogenesis | Q372016 |
| P304 | page(s) | 2253-2261 | |
| P577 | publication date | 2013-11-12 | |
| P1433 | published in | Pediatric Nephrology | Q15749796 |
| P1476 | title | Lysosome dysfunction in the pathogenesis of kidney diseases | |
| P478 | volume | 29 |
| Q36500470 | A Two-Photon Fluorescent Probe for Lysosomal Thiols in Live Cells and Tissues |
| Q52779493 | A lysosome-targeted fluorescent chemodosimeter for monitoring endogenous and exogenous hydrogen sulfide by in vivo imaging. |
| Q58608039 | A lysosome-targeting nanosensor for simultaneous fluorometric imaging of intracellular pH values and temperature |
| Q40974192 | Cathepsin D in Podocytes Is Important in the Pathogenesis of Proteinuria and CKD. |
| Q40175140 | Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease |
| Q64267452 | Lysosome-Targeted Single Fluorescence Probe for Two-Channel Imaging Intracellular SO₂ and Biothiols |
| Q47171560 | The Multifaceted Role of the Lysosomal Protease Cathepsins in Kidney Disease. |
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