158 related articles for article (PubMed ID: 38101161)
1. Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity.
Nicoletti T; Bink A; Helmchen B; Briel N; Frontzek K; Vlad B; Gaspert A; Boudriot E; Jung HH; Reuss AM; Weller M; Hortobágyi T
J Neurol Sci; 2024 Jan; 456():122841. PubMed ID: 38101161
[TBL] [Abstract][Full Text] [Related]
2. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L
BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123
[TBL] [Abstract][Full Text] [Related]
3. Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R
Pediatr Nephrol; 2021 Jun; 36(6):1347-1352. PubMed ID: 32564281
[TBL] [Abstract][Full Text] [Related]
4. Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.
Hollywood JA; Kallingappa PK; Cheung PY; Martis RM; Sreebhavan S; 'Atiola RD; Chatterjee A; Buckels EJ; Matthews BG; Lewis PM; Davidson AJ
Am J Physiol Renal Physiol; 2022 Aug; 323(2):F156-F170. PubMed ID: 35695380
[TBL] [Abstract][Full Text] [Related]
5. Effects of long-term cysteamine treatment in patients with cystinosis.
Ariceta G; Giordano V; Santos F
Pediatr Nephrol; 2019 Apr; 34(4):571-578. PubMed ID: 29260317
[TBL] [Abstract][Full Text] [Related]
6. [Cystinosis: From the gene identification to the first gene therapy clinical trial].
Cherqui S
Med Sci (Paris); 2023 Mar; 39(3):253-261. PubMed ID: 36943122
[TBL] [Abstract][Full Text] [Related]
7. Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.
Hollywood JA; Przepiorski A; D'Souza RF; Sreebhavan S; Wolvetang EJ; Harrison PT; Davidson AJ; Holm TM
J Am Soc Nephrol; 2020 May; 31(5):962-982. PubMed ID: 32198276
[TBL] [Abstract][Full Text] [Related]
8. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Sonies BC; Almajid P; Kleta R; Bernardini I; Gahl WA
Medicine (Baltimore); 2005 May; 84(3):137-146. PubMed ID: 15879904
[TBL] [Abstract][Full Text] [Related]
9. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
Gahl WA; Kuehl EM; Iwata F; Lindblad A; Kaiser-Kupfer MI
Mol Genet Metab; 2000; 71(1-2):100-20. PubMed ID: 11001803
[TBL] [Abstract][Full Text] [Related]
10. Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
Machuca-Gayet I; Quinaux T; Bertholet-Thomas A; Gaillard S; Claramunt-Taberner D; Acquaviva-Bourdain C; Bacchetta J
Int J Mol Sci; 2020 Apr; 21(9):. PubMed ID: 32354056
[TBL] [Abstract][Full Text] [Related]
11. Extrarenal complications of cystinosis.
Topaloglu R
Pediatr Nephrol; 2024 Aug; 39(8):2283-2292. PubMed ID: 38127152
[TBL] [Abstract][Full Text] [Related]
12. The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
Bondue T; Kouraich A; Berlingerio SP; Veys K; Marie S; Alsaad KO; Al-Sabban E; Levtchenko E; van den Heuvel L
Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36674769
[TBL] [Abstract][Full Text] [Related]
13. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
Napolitano G; Johnson JL; He J; Rocca CJ; Monfregola J; Pestonjamasp K; Cherqui S; Catz SD
EMBO Mol Med; 2015 Feb; 7(2):158-74. PubMed ID: 25586965
[TBL] [Abstract][Full Text] [Related]
14. Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Langman CB; Barshop BA; Deschênes G; Emma F; Goodyer P; Lipkin G; Midgley JP; Ottolenghi C; Servais A; Soliman NA; Thoene JG; Levtchenko EN;
Kidney Int; 2016 Jun; 89(6):1192-203. PubMed ID: 27181776
[TBL] [Abstract][Full Text] [Related]
15. Cystinosis: a review.
Elmonem MA; Veys KR; Soliman NA; van Dyck M; van den Heuvel LP; Levtchenko E
Orphanet J Rare Dis; 2016 Apr; 11():47. PubMed ID: 27102039
[TBL] [Abstract][Full Text] [Related]
16. Cystinosis.
Hohenfellner K; Zerell K; Haffner D
Klin Monbl Augenheilkd; 2023 Mar; 240(3):251-259. PubMed ID: 36977426
[TBL] [Abstract][Full Text] [Related]
17. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.
Rega LR; Polishchuk E; Montefusco S; Napolitano G; Tozzi G; Zhang J; Bellomo F; Taranta A; Pastore A; Polishchuk R; Piemonte F; Medina DL; Catz SD; Ballabio A; Emma F
Kidney Int; 2016 Apr; 89(4):862-73. PubMed ID: 26994576
[TBL] [Abstract][Full Text] [Related]
18. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
Cherqui S; Sevin C; Hamard G; Kalatzis V; Sich M; Pequignot MO; Gogat K; Abitbol M; Broyer M; Gubler MC; Antignac C
Mol Cell Biol; 2002 Nov; 22(21):7622-32. PubMed ID: 12370309
[TBL] [Abstract][Full Text] [Related]
19. Residual Cystine Transport Activity for Specific Infantile and Juvenile
Medaer L; David D; Smits M; Levtchenko E; Sampaolesi M; Gijsbers R
Cells; 2024 Apr; 13(7):. PubMed ID: 38607085
[TBL] [Abstract][Full Text] [Related]
20. Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.
Hector E; Cairns D; Michael Wall G
Orphanet J Rare Dis; 2022 Jun; 17(1):231. PubMed ID: 35710564
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]