Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery.
作者信息
Urbán Z, Boyd C D
出版信息
Am J Hum Genet. 2000 Jul;67(1):4-7. doi: 10.1086/302987. Epub 2000 Jun 6.
Abstract
摘要
相似文献
1
Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery.
Am J Hum Genet. 2000 Jul;67(1):4-7. doi: 10.1086/302987. Epub 2000 Jun 6.
2
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Am J Hum Genet. 2000 Jul;67(1):23-36. doi: 10.1086/302968. Epub 2000 Jun 6.
3
[Morquio's disease with delayed mucopolysacchariduria and leukocyte betagalactosidase deficiency].
Ann Pediatr (Paris). 1976 Sep;23(8-9):515-23.
4
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.
5
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
Hum Genet. 1993 May;91(4):407. doi: 10.1007/BF00217370.
6
4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations.
Bioorg Med Chem. 2018 Nov 1;26(20):5462-5469. doi: 10.1016/j.bmc.2018.09.023. Epub 2018 Sep 21.
7
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Hum Genet. 1994 Feb;93(2):109-14. doi: 10.1007/BF00210592.
8
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Biochim Biophys Acta. 1999 Oct 8;1455(2-3):85-103. doi: 10.1016/s0925-4439(99)00075-7.
9
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.
Mol Genet Metab. 2019 Feb;126(2):139-150. doi: 10.1016/j.ymgme.2018.11.002. Epub 2018 Nov 22.
10
Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum.
Br J Dermatol. 1995 Dec;133(6):836-41. doi: 10.1111/j.1365-2133.1995.tb06913.x.
引用本文的文献
1
Urological Problems in Patients with Menkes Disease.
J Korean Med Sci. 2018 Dec 26;34(1):e4. doi: 10.3346/jkms.2019.34.e4. eCollection 2019 Jan 7.
2
Fibrillins in Tendon.
Front Aging Neurosci. 2016 Oct 20;8:237. doi: 10.3389/fnagi.2016.00237. eCollection 2016.
3
Elastin degradation product isodesmosine is a chemoattractant for Pseudomonas aeruginosa.
Microbiology (Reading). 2015 Jul;161(7):1496-503. doi: 10.1099/mic.0.000090. Epub 2015 Apr 8.
4
Elastic fibres are broadly distributed in tendon and highly localized around tenocytes.
J Anat. 2013 Jun;222(6):573-9. doi: 10.1111/joa.12048. Epub 2013 Apr 15.
5
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
BMC Genomics. 2007 Sep 12;8:319. doi: 10.1186/1471-2164-8-319.
6
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19.
本文引用的文献
1
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Hum Genet. 2000 Jun;106(6):577-88. doi: 10.1007/s004390000285.
2
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Am J Hum Genet. 2000 Jul;67(1):23-36. doi: 10.1086/302968. Epub 2000 Jun 6.
3
Mutations in ABCC6 cause pseudoxanthoma elasticum.
Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109.
4
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102.
5
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6. doi: 10.1073/pnas.100041297.
6
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
Am J Hum Genet. 2000 Mar;66(3):859-72. doi: 10.1086/302829.
7
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Am J Pathol. 2000 Mar;156(3):925-38. doi: 10.1016/S0002-9440(10)64961-9.
8
Williams-Beuren syndrome: genes and mechanisms.
Hum Mol Genet. 1999;8(10):1947-54. doi: 10.1093/hmg/8.10.1947.
9
Molecular genetics and pathophysiology of Menkes disease.
Pediatr Int. 1999 Aug;41(4):430-5. doi: 10.1046/j.1442-200x.1999.01091.x.
10
Elastin: molecular description and function.
Int J Biochem Cell Biol. 1999 Feb;31(2):261-72. doi: 10.1016/s1357-2725(98)00098-3.
Zotero 插件