ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0018.1-10 | Genetics | ESPEYB18

1.10. MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia

K Matsuno , S Nagashima , I Shiiba , K Taniwaka , K Takeda , T Tokuyama , N Ito , N Matsushita , T Fukuda , S Ishido , R Inatome , S Yanagi

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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