Similar articles for PMID: 24319100

Year	Number of Results
1982	1
1987	4
1989	1
1990	1
1992	1
1995	2
1997	1
1998	3
1999	3
2000	6
2001	6
2002	7
2003	2
2004	7
2005	5
2006	1
2007	4
2008	5
2009	6
2010	15
2011	9
2012	12
2013	11
2014	12
2015	18
2016	23
2017	13
2018	17
2019	21
2020	9
2021	14
2022	19
2023	5
2024	0

1

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. Raggi C, et al. Hum Mol Genet. 2014 May 1;23(9):2266-78. doi: 10.1093/hmg/ddt617. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319100 Free article.

2

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. Krohn P, et al. Hum Mol Genet. 2022 Jul 7;31(13):2262-2278. doi: 10.1093/hmg/ddac033. Hum Mol Genet. 2022. PMID: 35137071 Free PMC article.

3

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. Elmonem MA, et al. Sci Rep. 2017 Feb 15;7:42583. doi: 10.1038/srep42583. Sci Rep. 2017. PMID: 28198397 Free PMC article.

4

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. Napolitano G, et al. EMBO Mol Med. 2015 Feb;7(2):158-74. doi: 10.15252/emmm.201404223. EMBO Mol Med. 2015. PMID: 25586965 Free PMC article.

5

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.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ. Gaide Chevronnay HP, et al. Endocrinology. 2015 Jun;156(6):2349-64. doi: 10.1210/en.2014-1672. Epub 2015 Mar 26. Endocrinology. 2015. PMID: 25811319 Free PMC article.

6

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. Papizh S, et al. BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2. BMC Nephrol. 2019. PMID: 31672123 Free PMC article.

7

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. Rega LR, et al. Kidney Int. 2016 Apr;89(4):862-73. doi: 10.1016/j.kint.2015.12.045. Kidney Int. 2016. PMID: 26994576 Free article.

8

The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

Wilmer MJ, Emma F, Levtchenko EN. Wilmer MJ, et al. Am J Physiol Renal Physiol. 2010 Nov;299(5):F905-16. doi: 10.1152/ajprenal.00318.2010. Epub 2010 Sep 8. Am J Physiol Renal Physiol. 2010. PMID: 20826575 Free article. Review.

9

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.

Zhang J, Johnson JL, He J, Napolitano G, Ramadass M, Rocca C, Kiosses WB, Bucci C, Xin Q, Gavathiotis E, Cuervo AM, Cherqui S, Catz SD. Zhang J, et al. J Biol Chem. 2017 Jun 23;292(25):10328-10346. doi: 10.1074/jbc.M116.764076. Epub 2017 May 2. J Biol Chem. 2017. PMID: 28465352 Free PMC article.

10

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN. Ivanova EA, et al. PLoS One. 2015 Mar 26;10(3):e0120998. doi: 10.1371/journal.pone.0120998. eCollection 2015. PLoS One. 2015. PMID: 25811383 Free PMC article.

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