Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia
about
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneOrnithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneMethylation and expression of human pepsinogen genes in normal tissues and their alteration in stomach cancerA mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathwayInsulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.Use of a synthetic peptide antigen to generate antisera reactive with a proteolytic processing site in native human proinsulin: demonstration of cleavage within clathrin-coated (pro)secretory vesicles.A superactive insulin: [B10-aspartic acid]insulin(human).A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursorThe role of the unfolded protein response in diabetes mellitus.Insulin gene mutations and diabetesPrecursors to regulatory peptides: their proteolytic processing.
P2860
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P2860
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh
1985年學術文章
@zh-hant
name
Posttranslational cleavage of ...... n familial hyperproinsulinemia
@en
type
label
Posttranslational cleavage of ...... n familial hyperproinsulinemia
@en
prefLabel
Posttranslational cleavage of ...... n familial hyperproinsulinemia
@en
P2093
P2860
P356
P1476
Posttranslational cleavage of ...... n familial hyperproinsulinemia
@en
P2093
P2860
P304
P356
10.1172/JCI111973
P407
P577
1985-07-01T00:00:00Z