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

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Journal of Clinical Investigation
Volume	130
Issue number	12
Pages (from-to)	6338-6353
Number of pages	16
ISSN	0021-9738
DOIs	https://doi.org/10.1172/JCI141455
Publication status	Published - 1 Dec 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

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

Access to Document

10.1172/JCI141455

141455.2-20201218131651-covered-253bed37ca4c1ab43d105aefdf7b5536Final published version, 13.6 MBLicence: Unspecified

Cite this

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",

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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, no. 12, pp. 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

VL - 130

SP - 6338

EP - 6353

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 12

ER -