Defective insulin action in fibroblasts from noninsulin-dependent diabetes mellitus patients with Gln1152 insulin receptor mutation

Autor: Assiamira Ferrara, Pietro Formisano, Gabriele Riccardi, Francesco Beguinot, B. Di Finizio, Claudia Miele, Arnolfo Petruzziello, Laura Beguinot

Publikováno v: Scopus-Elsevier
The Journal of clinical endocrinology and metabolism 77 (1993): 409–412.
info:cnr-pdr/source/autori:Petruzziello A, Formisano P, Miele C, Di Finizio B, Riccardi G, Ferrara A, Beguinot L, Beguinot F./titolo:Defective insulin action in fibroblasts from noninsulin-dependent diabetes mellitus patients with Gln1152 insulin receptor mutation./doi:/rivista:The Journal of clinical endocrinology and metabolism/anno:1993/pagina_da:409/pagina_a:412/intervallo_pagine:409–412/volume:77

Insulin action was investigated in cultured skin fibroblasts from two consanguineous patients with a heterozygous point mutation in the insulin receptor kinase (Arg1152-Gln). In spite of normal binding, Gln1152 insulin receptor exhibited 20% increase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3121f0da235ece63cb1af5db84b95baa
https://doi.org/10.1210/jcem.77.2.8393885

Late gonadal function and autoimmunization in familial testicular torsion

Autor: A. De Bellis, B. Di Finizio, Daniela Pasquali, A. A. Sinisi, F. Lettieri, C. Scurini, Antonio Bellastella

Publikováno v: Scopus-Elsevier

Testicular torsion, one of the most common pediatric urological emergencies, is rarely familial. This study deals with the sixth recorded family with familial testicular torsion and the effects on the spermatogenesis and the appearance of testicular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2d1177f47136c9b99e925e1088fbf5
https://pubmed.ncbi.nlm.nih.gov/8498865

Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action

Autor: Arnolfo Petruzziello, Pietro Formisano, Claudia Miele, B. Di Finizio, Kyoung-Jin Sohn, Laura Beguinot, Francesco Beguinot, Gabriele Riccardi

Publikováno v: Scopus-Elsevier
The Journal of biological chemistry
268 (1993): 5241–5248.
info:cnr-pdr/source/autori:Formisano P, Sohn KJ, Miele C, Di Finizio B, Petruzziello A, Riccardi G, Beguinot L, Beguinot F./titolo:Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action./doi:/rivista:The Journal of biological chemistry (Print)/anno:1993/pagina_da:5241/pagina_a:5248/intervallo_pagine:5241–5248/volume:268

We have recently reported two non-insulin-dependent diabetic patients exhibiting a heterozygous point mutation (R1152-Q) next to the key tyrosine autophosphorylation sites (Y1146, Y1150, Y1151) of the insulin receptor. In the present study, we demons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1eb416f59d5aff50fcad66c390607c4
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027466662&partnerID=MN8TOARS

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