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1.
4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.
Hum Mol Genet
; 28(4): 628-638, 2019 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30351356
2.
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Hum Mol Genet
; 23(2): 283-92, 2014 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24001601
3.
The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.
Kidney Int Rep
; 2(4): 739-748, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29142990
4.
ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.
Dis Model Mech
; 9(2): 165-76, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26839400
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