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Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic I...

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic I...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A780876797

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic IDNAJC3/I Variants

About this item

Full title

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic IDNAJC3/I Variants

Publisher

MDPI AG

Journal title

International journal of molecular sciences, 2024-01, Vol.25 (2)

Language

English

Formats

Publication information

Publisher

MDPI AG

More information

Scope and Contents

Contents

The BiP co-chaperone DNAJC3 protects cells during ER stress. In mice, the deficiency of DNAJC3 leads to beta-cell apoptosis and the gradual onset of hyperglycemia. In humans, biallelic DNAJC3 variants cause a multisystem disease, including early-onset diabetes mellitus. Recently, hyperinsulinemic hypoglycemia (HH) has been recognized as part of thi...

Alternative Titles

Full title

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic IDNAJC3/I Variants

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A780876797

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A780876797

Other Identifiers

ISSN

1422-0067

DOI

10.3390/ijms25021270

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