219 related articles for article (PubMed ID: 33975805)
1. Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.
Jamalpoor A; Othman A; Levtchenko EN; Masereeuw R; Janssen MJ
Trends Mol Med; 2021 Jul; 27(7):673-686. PubMed ID: 33975805
[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. Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
Krohn P; Rega LR; Harvent M; Festa BP; Taranta A; Luciani A; Dewulf J; Cremonesi A; Camassei FD; Hanson JVM; Gerth-Kahlert C; Emma F; Berquez M; Devuyst O
Hum Mol Genet; 2022 Jul; 31(13):2262-2278. PubMed ID: 35137071
[TBL] [Abstract][Full Text] [Related]
4. Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.
Cherqui S
Cells; 2021 Nov; 10(12):. PubMed ID: 34943781
[TBL] [Abstract][Full Text] [Related]
5. Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
Bastug F; Nalcacioglu H; Ozaltin F; Korkmaz E; Yel S
Iran J Kidney Dis; 2018 Jan; 12(1):61-63. PubMed ID: 29421779
[TBL] [Abstract][Full Text] [Related]
6. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.
Harrison F; Yeagy BA; Rocca CJ; Kohn DB; Salomon DR; Cherqui S
Mol Ther; 2013 Feb; 21(2):433-44. PubMed ID: 23089735
[TBL] [Abstract][Full Text] [Related]
7. Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S; Al-Rababah B; Hazza I; Akl K; Saca E; Al-Younis D
Nefrologia; 2015; 35(6):547-53. PubMed ID: 26565940
[TBL] [Abstract][Full Text] [Related]
8. Is genetic rescue of cystinosis an achievable treatment goal?
Cherqui S
Nephrol Dial Transplant; 2014 Mar; 29(3):522-8. PubMed ID: 23861466
[TBL] [Abstract][Full Text] [Related]
9. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
Elmonem MA; Khalil R; Khodaparast L; Khodaparast L; Arcolino FO; Morgan J; Pastore A; Tylzanowski P; Ny A; Lowe M; de Witte PA; Baelde HJ; van den Heuvel LP; Levtchenko E
Sci Rep; 2017 Feb; 7():42583. PubMed ID: 28198397
[TBL] [Abstract][Full Text] [Related]
10. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Tang S; Danda S; Zoleikhaeian M; Simon M; Huang T
Genet Test Mol Biomarkers; 2009 Aug; 13(4):435-8. PubMed ID: 19580442
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
Brasell EJ; Chu L; El Kares R; Seo JH; Loesch R; Iglesias DM; Goodyer P
Pediatr Nephrol; 2019 May; 34(5):873-881. PubMed ID: 30413946
[TBL] [Abstract][Full Text] [Related]
13. 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]
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.
Bondue T; Khodaparast L; Khodaparast L; Cairoli S; Goffredo BM; Gijsbers R; van den Heuvel L; Levtchenko E
Am J Physiol Renal Physiol; 2024 Jun; 326(6):F981-F987. PubMed ID: 38545650
[TBL] [Abstract][Full Text] [Related]
16. Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.
Raggi C; Luciani A; Nevo N; Antignac C; Terryn S; Devuyst O
Hum Mol Genet; 2014 May; 23(9):2266-78. PubMed ID: 24319100
[TBL] [Abstract][Full Text] [Related]
17. Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.
De Leo E; Elmonem MA; Berlingerio SP; Berquez M; Festa BP; Raso R; Bellomo F; Starborg T; Janssen MJ; Abbaszadeh Z; Cairoli S; Goffredo BM; Masereeuw R; Devuyst O; Lowe M; Levtchenko E; Luciani A; Emma F; Rega LR
J Am Soc Nephrol; 2020 Jul; 31(7):1522-1537. PubMed ID: 32503896
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D; Princiero Berlingerio S; Elmonem MA; Oliveira Arcolino F; Soliman N; van den Heuvel B; Gijsbers R; Levtchenko E
Nephron; 2019; 141(2):133-146. PubMed ID: 30554218
[TBL] [Abstract][Full Text] [Related]
20. Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
Johnson JL; Napolitano G; Monfregola J; Rocca CJ; Cherqui S; Catz SD
Mol Cell Biol; 2013 Aug; 33(15):2950-62. PubMed ID: 23716592
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]