2006
DOI: 10.1074/jbc.m510903200
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Aberrant Folding of a Mutant Stat5b Causes Growth Hormone Insensitivity and Proteasomal Dysfunction

Abstract: A predicted alanine to proline substitution in Stat5b that results in profound short stature, growth hormone insensitivity, and immunodeficiency represents the first natural mutation of this transcription factor in a human. To understand the mechanisms responsible for these pathophysiological abnormalities, we have studied the biochemical and biophysical properties of the mutant Stat5b molecule. In a cellular reconstitution model growth hormone robustly stimulated tyrosine phosphorylation and transcriptional a… Show more

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Cited by 29 publications
(20 citation statements)
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References 42 publications
(31 reference statements)
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“…Refs. [71][72][73] and because in some of our images we observed what appeared to be aggregates of the receptors (Figs. 5 and 6), we examined the solubility of the receptors and the 'S78D' mutants in the transfected COS-7 cells.…”
Section: Discussionmentioning
confidence: 82%
“…Refs. [71][72][73] and because in some of our images we observed what appeared to be aggregates of the receptors (Figs. 5 and 6), we examined the solubility of the receptors and the 'S78D' mutants in the transfected COS-7 cells.…”
Section: Discussionmentioning
confidence: 82%
“…1A) had undetectable levels of STAT5b protein and normal levels of STAT5a, similar to those of STAT5b A630P/A630P fibroblasts or EBV-transformed B cell lines (15,16). Immunological evaluation between 3 and 19 years of age (Fig.…”
Section: Stat5bmentioning
confidence: 99%
“…These reports are from homozygous patients while the parents are heterozygous for the STAT5b mutation and display a normal phenotype. The phenotype of each STAT5b mutant is similar: pronounced short stature, growth hormone insensitivity despite normal to high levels of GH in the serum, and extremely low IGF-I and IGFBP-3 levels (Chia et al, 2006;Hwa et al, 2007;Nadeau et al, 2011).…”
Section: Notementioning
confidence: 86%
“…Laron type dwarfism II (LTD2) is mediated by defects in STAT5b (Nadeau et al, 2011;Freeth et al, 1998;Chia et al, 2006).…”
Section: Notementioning
confidence: 99%