Gene Symbol: serpinh1b
Description: serpin peptidase inhibitor, clade H (heat shock protein 47), member 1b
Alias: cb216, hsp, hsp47, id:ibd5060, wu:fc56b02, serpin H1, fc56b02, heat shock protein 47
Lang M, Lapierre L, Frotscher M, Goldenring J, Knapik E. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nat Genet. 2006;38:1198-203 pubmed
..As SEC23A lesions cause the cranio-lenticulo-sutural dysplasia syndrome, crusher provides the first vertebrate model system that links the biology of endoplasmic reticulum to Golgi trafficking with a clinically relevant dysmorphology. ..
Sarmah S, Barrallo Gimeno A, Melville D, Topczewski J, Solnica Krezel L, Knapik E. Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis. PLoS ONE. 2010;5:e10367 pubmed publisher
..Our study presents the first developmental perspective on Sec24D function and establishes Sec24D as a strong candidate for cartilage maintenance diseases and craniofacial birth defects. ..
Hawkins T, Haramis A, Etard C, Prodromou C, Vaughan C, Ashworth R, et al
. The ATPase-dependent chaperoning activity of Hsp90a regulates thick filament formation and integration during skeletal muscle myofibrillogenesis. Development. 2008;135:1147-56 pubmed publisher
..Our studies reveal a surprisingly specific developmental role for a single Hsp90 gene in a regulatory pathway controlling late steps in sarcomere assembly. ..
Eauclaire S, Cui S, Ma L, Matous J, Marlow F, Gupta T, et al
. Mutations in vacuolar H+ -ATPase subunits lead to biliary developmental defects in zebrafish. Dev Biol. 2012;365:434-44 pubmed publisher
Meng F, Braasch I, Phillips J, Lin X, Titus T, Zhang C, et al
. Evolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefish. Mol Biol Evol. 2013;30:1527-43 pubmed publisher
..These results show that the independent evolution of retinal degeneration in cavefish can occur by different developmental genetic mechanisms. ..
Bhadra J, Iovine M. Hsp47 mediates Cx43-dependent skeletal growth and patterning in the regenerating fin. Mech Dev. 2015;138 Pt 3:364-74 pubmed publisher
..Here we demonstrate that serpinh1b is molecularly and functionally downstream of cx43...
Gioia R, Tonelli F, Ceppi I, Biggiogera M, Leikin S, Fisher S, et al
. The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. Hum Mol Genet. 2017;26:2897-2911 pubmed publisher
..In conclusion, our data demonstrated that ER stress is a novel target to ameliorate OI phenotype; chemical chaperones such as 4PBA may be, alone or in combination, a new class of molecules to be further investigated for OI treatment. ..
Wu M, Liu S, Hu L, Qu H, Pan C, Lei P, et al
. Global transcriptomic analysis of zebrafish in response to embryonic exposure to three antidepressants, amitriptyline, fluoxetine and mianserin. Aquat Toxicol. 2017;192:274-283 pubmed publisher
Keller E, Murtha J. The use of mature zebrafish (Danio rerio) as a model for human aging and disease. Comp Biochem Physiol C Toxicol Pharmacol. 2004;138:335-41 pubmed
..These highlights demonstrate the utility of zebrafish as a model for disease and aging. ..