S Cherqui
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Explore the profile of S Cherqui including associated specialties, affiliations and a list of published articles.
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11
Citations
615
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Recent Articles
1.
Rocca C, Cherqui S
Methods Mol Biol
. 2019 Feb;
1937:227-234.
PMID: 30706400
Genetic nephropathies represent a challenging class of disorders to be treated by gene therapy. This is primarily due to the filtering properties of the kidney itself, which does not allow...
2.
Gaide Chevronnay H, Janssens V, Van Der Smissen P, Rocca C, Liao X, Refetoff S, et al.
Endocrinology
. 2016 Jan;
157(4):1363-71.
PMID: 26812160
Hypothyroidism is the most frequent and earliest endocrine complication in cystinosis, a multisystemic lysosomal storage disease caused by defective transmembrane cystine transporter, cystinosin (CTNS gene). We recently demonstrated in Ctns(-/-)...
3.
Gaide Chevronnay H, Janssens V, Van Der Smissen P, Liao X, Abid Y, Nevo N, et al.
Endocrinology
. 2015 Mar;
156(6):2349-64.
PMID: 25811319
Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which are impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin. Cystinotic children...
4.
Rocca C, Ur S, Harrison F, Cherqui S
Gene Ther
. 2014 May;
21(6):618-28.
PMID: 24784447
Effective gene therapy strategies for the treatment of kidney disorders remain elusive. We report an optimized kidney-targeted gene delivery strategy using recombinant adeno-associated virus (rAAV) administered via retrograde renal vein...
5.
Martina Y, Marcucci K, Cherqui S, Szabo A, Drysdale T, Srinivisan U, et al.
J Virol
. 2006 Mar;
80(7):3135-46.
PMID: 16537582
Porcine endogenous retrovirus (PERV) is considered one of the major risks in xenotransplantation. No valid animal model has been established to evaluate the risks associated with PERV transmission to human...
6.
Kalatzis V, Cherqui S, Antignac C, Gasnier B
EMBO J
. 2001 Nov;
20(21):5940-9.
PMID: 11689434
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However, the causative gene, CTNS, encodes a seven transmembrane domain lysosomal protein, cystinosin, unrelated...
7.
Cherqui S, Kalatzis V, Trugnan G, Antignac C
J Biol Chem
. 2001 Jan;
276(16):13314-21.
PMID: 11150305
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies showed that the lysosomal cystine transporter was distinct from the plasma membrane cystine transporters and...
8.
Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C
BMC Genomics
. 2000 Dec;
1:2.
PMID: 11121245
Background: Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene,...
9.
Attard M, Jean G, Forestier L, Cherqui S, Vant Hoff W, Broyer M, et al.
Hum Mol Genet
. 1999 Nov;
8(13):2507-14.
PMID: 10556299
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal...
10.
Forestier L, Jean G, Attard M, Cherqui S, Lewis C, Vant Hoff W, et al.
Am J Hum Genet
. 1999 Jul;
65(2):353-9.
PMID: 10417278
Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the transport of cystine across the lysosomal membrane....