YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Elisa De Franco; Maria Lytrivi; Hazem Ibrahim; Hossam Montaser; Matthew N. Wakeling; Federica Fantuzzi; Kashyap Patel; Celine Demarez; Ying Cai; Mariana Igoillo-Esteve; Cristina Cosentino; Väinö Lithovius; Helena Vihinen; Eija Jokitalo; Thomas W. Laver; Matthew B. Johnson; Toshiaki Sawatani; Hadis Shakeri; Nathalie Pachera; Belma Haliloglu; Mehmet Nuri Ozbek; Edip Unal; Ruken Yildirim; Tushar Godbole; Melek Yildiz; Banu Aydin; Angeline Bilheu; Ikuo Suzuki; Sarah E. Flanagan; Pierre Vanderhaeghen; Valerie Senee; Cecile Julier; Piero Marchetti; Decio L. Eizirik; Sian Ellard; Jonna Saarimäki-Vire; Timo Otonkoski; Miriam Cnop; Andrew T. Hattersley

doi:10.1172/JCI141455

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Elisa De Franco, Maria Lytrivi, Hazem Ibrahim, Hossam Montaser, Matthew N. Wakeling, Federica Fantuzzi, Kashyap Patel, Celine Demarez, Ying Cai, Mariana Igoillo-Esteve, Cristina Cosentino, Väinö Lithovius, Helena Vihinen, Eija Jokitalo, Thomas W. Laver, Matthew B. Johnson, Toshiaki Sawatani, Hadis Shakeri, Nathalie Pachera, Belma HalilogluMehmet Nuri Ozbek, Edip Unal, Ruken Yildirim, Tushar Godbole, Melek Yildiz, Banu Aydin, Angeline Bilheu, Ikuo Suzuki, Sarah E. Flanagan, Pierre Vanderhaeghen, Valerie Senee, Cecile Julier, Piero Marchetti, Decio L. Eizirik, Sian Ellard, Jonna Saarimäki-Vire, Timo Otonkoski, Miriam Cnop, Andrew T. Hattersley

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Clinical Investigation
Volym	130
Nummer	12
Sidor (från-till)	6338-6353
Antal sidor	16
ISSN	0021-9738
DOI	https://doi.org/10.1172/JCI141455
Status	Publicerad - 1 dec. 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3123 Kvinno- och barnsjukdomar

Åtkomst av dokument

10.1172/JCI141455

141455.2-20201218131651-covered-253bed37ca4c1ab43d105aefdf7b5536Slutlig publicerad version, 13,6 MBLicens: !!Unspecified

Citera det här

De Franco, E., Lytrivi, M., Ibrahim, H., Montaser, H., Wakeling, M. N., Fantuzzi, F., Patel, K., Demarez, C., Cai, Y., Igoillo-Esteve, M., Cosentino, C., Lithovius, V., Vihinen, H., Jokitalo, E., Laver, T. W., Johnson, M. B., Sawatani, T., Shakeri, H., Pachera, N., ... Hattersley, A. T. (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. Journal of Clinical Investigation, 130(12), 6338-6353. https://doi.org/10.1172/JCI141455

@article{379a2ea280c6466a9ee0c4b72806033d,

title = "YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress",

keywords = "PROTEIN RESPONSE CONTRIBUTES, PANCREATIC BETA-CELLS, CORTICAL NEUROGENESIS, TRANSCRIPTION FACTOR, GOLGI STRESS, ER STRESS, GENERATION, EXPRESSION, APOPTOSIS, PUMA, 3123 Gynaecology and paediatrics",

author = "{De Franco}, Elisa and Maria Lytrivi and Hazem Ibrahim and Hossam Montaser and Wakeling, {Matthew N.} and Federica Fantuzzi and Kashyap Patel and Celine Demarez and Ying Cai and Mariana Igoillo-Esteve and Cristina Cosentino and V{\"a}in{\"o} Lithovius and Helena Vihinen and Eija Jokitalo and Laver, {Thomas W.} and Johnson, {Matthew B.} and Toshiaki Sawatani and Hadis Shakeri and Nathalie Pachera and Belma Haliloglu and Ozbek, {Mehmet Nuri} and Edip Unal and Ruken Yildirim and Tushar Godbole and Melek Yildiz and Banu Aydin and Angeline Bilheu and Ikuo Suzuki and Flanagan, {Sarah E.} and Pierre Vanderhaeghen and Valerie Senee and Cecile Julier and Piero Marchetti and Eizirik, {Decio L.} and Sian Ellard and Jonna Saarim{\"a}ki-Vire and Timo Otonkoski and Miriam Cnop and Hattersley, {Andrew T.}",

year = "2020",

month = dec,

day = "1",

doi = "10.1172/JCI141455",

language = "English",

volume = "130",

pages = "6338--6353",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "AMERICAN SOCIETY FOR CLINICAL INVESTIGATION",

number = "12",

}

De Franco, E, Lytrivi, M, Ibrahim, H, Montaser, H, Wakeling, MN, Fantuzzi, F, Patel, K, Demarez, C, Cai, Y, Igoillo-Esteve, M, Cosentino, C, Lithovius, V , Vihinen, H , Jokitalo, E, Laver, TW, Johnson, MB, Sawatani, T, Shakeri, H, Pachera, N, Haliloglu, B, Ozbek, MN, Unal, E, Yildirim, R, Godbole, T, Yildiz, M, Aydin, B, Bilheu, A, Suzuki, I, Flanagan, SE, Vanderhaeghen, P, Senee, V, Julier, C, Marchetti, P, Eizirik, DL, Ellard, S, Saarimäki-Vire, J , Otonkoski, T, Cnop, M & Hattersley, AT 2020, 'YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress', Journal of Clinical Investigation, vol. 130, nr. 12, s. 6338-6353. https://doi.org/10.1172/JCI141455

TY - JOUR

T1 - YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

AU - De Franco, Elisa

AU - Lytrivi, Maria

AU - Ibrahim, Hazem

AU - Montaser, Hossam

AU - Wakeling, Matthew N.

AU - Fantuzzi, Federica

AU - Patel, Kashyap

AU - Demarez, Celine

AU - Cai, Ying

AU - Igoillo-Esteve, Mariana

AU - Cosentino, Cristina

AU - Lithovius, Väinö

AU - Vihinen, Helena

AU - Jokitalo, Eija

AU - Laver, Thomas W.

AU - Johnson, Matthew B.

AU - Sawatani, Toshiaki

AU - Shakeri, Hadis

AU - Pachera, Nathalie

AU - Haliloglu, Belma

AU - Ozbek, Mehmet Nuri

AU - Unal, Edip

AU - Yildirim, Ruken

AU - Godbole, Tushar

AU - Yildiz, Melek

AU - Aydin, Banu

AU - Bilheu, Angeline

AU - Suzuki, Ikuo

AU - Flanagan, Sarah E.

AU - Vanderhaeghen, Pierre

AU - Senee, Valerie

AU - Julier, Cecile

AU - Marchetti, Piero

AU - Eizirik, Decio L.

AU - Ellard, Sian

AU - Saarimäki-Vire, Jonna

AU - Otonkoski, Timo

AU - Cnop, Miriam

AU - Hattersley, Andrew T.

PY - 2020/12/1

Y1 - 2020/12/1

KW - PROTEIN RESPONSE CONTRIBUTES

KW - PANCREATIC BETA-CELLS

KW - CORTICAL NEUROGENESIS

KW - TRANSCRIPTION FACTOR

KW - GOLGI STRESS

KW - ER STRESS

KW - GENERATION

KW - EXPRESSION

KW - APOPTOSIS

KW - PUMA

KW - 3123 Gynaecology and paediatrics

U2 - 10.1172/JCI141455

DO - 10.1172/JCI141455

M3 - Article

SN - 0021-9738

VL - 130

SP - 6338

EP - 6353

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 12

ER -