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ey0015.3-3 | Mechanisms of the year | ESPEYB15

3.3 Internalized TSH receptors en route to the TGN induce local Gs-protein signaling and gene transcription

A Godbole , S Lyga , MJ Lohse , D Calebiro

To read the full abstract: Nat Commun 2017;8:443G-protein-coupled receptors (GPCRs) are a large family of receptors localized at the cell membrane, detecting specific ligands such as hormones, neurotransmitters, odors, pheromones. Further, GCPRs are the main element for the photoisomerization process, necessary to convert a photon impulse to an electrical signal in photosensitive gan...

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ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):63386353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

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ESPE Yearbook of Paediatric Endocrinology

3.3 Internalized TSH receptors en route to the TGN induce local Gs-protein signaling and gene transcription

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

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