YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
About this item
Full title
Author / Creator
De Franco, Elisa , Lytrivi, Maria , Ibrahim, Hazem , Montaser, Hossam , Wakeling, Matthew N , Fantuzzi, Federica , Patel, Kashyap , Demarez, Céline , Cai, Ying , Igoillo-Esteve, Mariana , Cosentino, Cristina , Lithovius, Väinö , Vihinen, Helena , Jokitalo, Eija , Laver, Thomas W , Johnson, Matthew B , Sawatani, Toshiaki , Shakeri, Hadis , Pachera, Nathalie , Haliloglu, Belma , Ozbek, Mehmet Nuri , Unal, Edip , Yıldırım, Ruken , Godbole, Tushar , Yildiz, Melek , Aydin, Banu , Bilheu, Angeline , Suzuki, Ikuo , Flanagan, Sarah E , Vanderhaeghen, Pierre , Senée, Valérie , Julier, Cécile , Marchetti, Piero , Eizirik, Decio L , Ellard, Sian , Saarimäki-Vire, Jonna , Otonkoski, Timo , Cnop, Miriam and Hattersley, Andrew T
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells. We identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involved in trafficking...
Alternative Titles
Full title
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Authors, Artists and Contributors
Author / Creator
Lytrivi, Maria
Ibrahim, Hazem
Montaser, Hossam
Wakeling, Matthew N
Fantuzzi, Federica
Patel, Kashyap
Demarez, Céline
Cai, Ying
Igoillo-Esteve, Mariana
Cosentino, Cristina
Lithovius, Väinö
Vihinen, Helena
Jokitalo, Eija
Laver, Thomas W
Johnson, Matthew B
Sawatani, Toshiaki
Shakeri, Hadis
Pachera, Nathalie
Haliloglu, Belma
Ozbek, Mehmet Nuri
Unal, Edip
Yıldırım, Ruken
Godbole, Tushar
Yildiz, Melek
Aydin, Banu
Bilheu, Angeline
Suzuki, Ikuo
Flanagan, Sarah E
Vanderhaeghen, Pierre
Senée, Valérie
Julier, Cécile
Marchetti, Piero
Eizirik, Decio L
Ellard, Sian
Saarimäki-Vire, Jonna
Otonkoski, Timo
Cnop, Miriam
Hattersley, Andrew T
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7685733
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7685733
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI141455
